HYAL1 (hyaluronidase 1) - Chinchilla Research Resource Database
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Gene: HYAL1 (hyaluronidase 1) Homo sapiens
Analyze
Symbol: HYAL1
Name: hyaluronidase 1
CRRD ID: 1352194
Description: Exhibits hyaluronan synthase activity; hyalurononglucosaminidase activity; and transcription factor binding activity. Involved in several processes, including cellular response to growth factor stimulus; hyaluronan metabolic process; and regulation of cell growth. Localizes to several cellular components, including extracellular space; hyaluranon cable; and lysosome. Implicated in mucopolysaccharidosis and mucopolysaccharidosis IX.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HYAL-1; hyaluronidase-1; hyaluronoglucosaminidase 1; hyaluronoglucosaminidase-1; luCa-1; LUCA1; lung carcinoma protein 1; MGC45987; MPS9; NAT6; plasma hyaluronidase; tumor suppressor LUCA-1
Orthologs:
Mus musculus (house mouse) : Hyal1 (hyaluronoglucosaminidase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Hyal1 (hyaluronidase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Hyal1 (hyaluronidase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : HYAL1 (hyaluronidase 1)
Canis lupus familiaris (dog) : HYAL1 (hyaluronidase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Hyal1 (hyaluronidase 1)
Sus scrofa (pig) : HYAL1 (hyaluronidase 1)
Chlorocebus sabaeus (African green monkey) : HYAL1 (hyaluronidase 1)
Heterocephalus glaber (naked mole-rat) : Hyal1 (hyaluronidase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl350,299,890 - 50,312,381 (-)EnsemblGRCh38hg38GRCh38
GRCh38350,299,889 - 50,312,951 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37350,337,320 - 50,349,812 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36350,312,324 - 50,324,816 (-)NCBINCBI36hg18NCBI36
Build 34350,312,324 - 50,316,008NCBI
Celera350,310,151 - 50,322,647 (-)NCBI
Cytogenetic Map3p21.31NCBI
HuRef350,393,063 - 50,405,514 (-)NCBIHuRef
CHM1_1350,289,626 - 50,302,099 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8603390   PMID:8793927   PMID:9223416   PMID:9409739   PMID:9503017   PMID:10702795   PMID:11296287   PMID:11929860   PMID:11944887   PMID:12084718   PMID:12477932   PMID:12684632  
PMID:12845686   PMID:14702039   PMID:15489334   PMID:16344560   PMID:16600643   PMID:16641997   PMID:16713680   PMID:16831275   PMID:16900089   PMID:17145867   PMID:17170110   PMID:17227790  
PMID:17324121   PMID:17415544   PMID:17502371   PMID:17503783   PMID:18029348   PMID:18083358   PMID:18281563   PMID:18390475   PMID:18677769   PMID:18718911   PMID:18725949   PMID:19140316  
PMID:19201751   PMID:19345473   PMID:19435493   PMID:19478093   PMID:19567141   PMID:19577615   PMID:20072653   PMID:20473947   PMID:20554532   PMID:20558613   PMID:20572808   PMID:20634891  
PMID:20849597   PMID:20875124   PMID:20960509   PMID:21559944   PMID:21695196   PMID:21699545   PMID:21829529   PMID:21873635   PMID:21988832   PMID:23166824   PMID:23376485   PMID:23533145  
PMID:24820161   PMID:25584766   PMID:26138586   PMID:26496610   PMID:26661071   PMID:26871637   PMID:27424109   PMID:27764788   PMID:28012250   PMID:28168629   PMID:28514442   PMID:29753676  
PMID:30972813   PMID:31266804   PMID:31908026  


Genomics

Comparative Map Data
HYAL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl350,299,890 - 50,312,381 (-)EnsemblGRCh38hg38GRCh38
GRCh38350,299,889 - 50,312,951 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37350,337,320 - 50,349,812 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36350,312,324 - 50,324,816 (-)NCBINCBI36hg18NCBI36
Build 34350,312,324 - 50,316,008NCBI
Celera350,310,151 - 50,322,647 (-)NCBI
Cytogenetic Map3p21.31NCBI
HuRef350,393,063 - 50,405,514 (-)NCBIHuRef
CHM1_1350,289,626 - 50,302,099 (-)NCBICHM1_1
Hyal1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399107,454,149 - 107,458,898 (+)NCBI
GRCm389107,576,950 - 107,581,699 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9107,576,927 - 107,581,710 (+)EnsemblGRCm38mm10GRCm38
MGSCv379107,479,283 - 107,482,468 (+)NCBIGRCm37mm9NCBIm37
MGSCv369107,435,053 - 107,438,238 (+)NCBImm8
Celera9107,185,725 - 107,188,909 (+)NCBICelera
Cytogenetic Map9F1NCBI
cM Map958.17NCBI
Hyal1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.08116,332,834 - 116,337,522 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8116,332,796 - 116,335,435 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08115,689,184 - 115,691,497 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48112,824,562 - 112,826,875 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.18112,844,016 - 112,846,330 (+)NCBI
Celera8107,557,375 - 107,559,688 (+)NCBICelera
Cytogenetic Map8q32NCBI
Hyal1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555322,112,771 - 2,115,952 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555322,113,016 - 2,116,093 (-)NCBIChiLan1.0ChiLan1.0
HYAL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1351,463,239 - 51,473,030 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl351,463,239 - 51,467,286 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0350,228,491 - 50,238,798 (-)NCBIMhudiblu_PPA_v0panPan3
HYAL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2039,038,514 - 39,040,368 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12039,035,924 - 39,040,443 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Hyal1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365291,838,212 - 1,842,399 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HYAL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1332,793,569 - 32,800,796 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11332,798,135 - 32,800,705 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21335,976,670 - 35,979,238 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap13q21NCBI
HYAL1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl2211,688,970 - 11,693,183 (-)Ensembl
ChlSab1.12211,689,123 - 11,693,144 (-)NCBI
Hyal1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247304,161,204 - 4,165,554 (-)NCBI

Position Markers
G59589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,337,385 - 50,337,488UniSTSGRCh37
Build 36350,312,389 - 50,312,492RGDNCBI36
Celera350,310,216 - 50,310,319RGD
Cytogenetic Map3p21.3-p21.2UniSTS
Cytogenetic Map3p21.3UniSTS
HuRef350,393,128 - 50,393,231UniSTS
TNG Radiation Hybrid Map331335.0UniSTS
WIAF-2197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,337,350 - 50,337,488UniSTSGRCh37
Build 36350,312,354 - 50,312,492RGDNCBI36
Celera350,310,181 - 50,310,319RGD
Cytogenetic Map3p21.3-p21.2UniSTS
Cytogenetic Map3p21.3UniSTS
HuRef350,393,093 - 50,393,231UniSTS
GeneMap99-GB4 RH Map3162.74UniSTS
NCBI RH Map3491.7UniSTS
PMC26875P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,340,080 - 50,340,616UniSTSGRCh37
Build 36350,315,084 - 50,315,620RGDNCBI36
Celera350,312,911 - 50,313,447RGD
Cytogenetic Map3p21.3-p21.2UniSTS
HuRef350,395,823 - 50,396,359UniSTS
PMC26875P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,339,410 - 50,339,776UniSTSGRCh37
Build 36350,314,414 - 50,314,780RGDNCBI36
Celera350,312,241 - 50,312,607RGD
Cytogenetic Map3p21.3-p21.2UniSTS
HuRef350,395,153 - 50,395,519UniSTS
PMC26875P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,338,305 - 50,338,630UniSTSGRCh37
Build 36350,313,309 - 50,313,634RGDNCBI36
Celera350,311,136 - 50,311,461RGD
Cytogenetic Map3p21.3-p21.2UniSTS
Cytogenetic Map3p21.3UniSTS
HuRef350,394,048 - 50,394,373UniSTS
PMC26875P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,337,879 - 50,338,327UniSTSGRCh37
Build 36350,312,883 - 50,313,331RGDNCBI36
Celera350,310,710 - 50,311,158RGD
Cytogenetic Map3p21.3-p21.2UniSTS
Cytogenetic Map3p21.3UniSTS
HuRef350,393,622 - 50,394,070UniSTS
D3S4188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,337,545 - 50,337,754UniSTSGRCh37
Build 36350,312,549 - 50,312,758RGDNCBI36
Celera350,310,376 - 50,310,585RGD
Cytogenetic Map3p21.3-p21.2UniSTS
Cytogenetic Map3p21.3UniSTS
HuRef350,393,288 - 50,393,497UniSTS
Stanford-G3 RH Map32234.0UniSTS
NCBI RH Map3488.5UniSTS
GeneMap99-G3 RH Map32132.0UniSTS
STS-U03056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,337,436 - 50,337,580UniSTSGRCh37
Build 36350,312,440 - 50,312,584RGDNCBI36
Celera350,310,267 - 50,310,411RGD
Cytogenetic Map3p21.3-p21.2UniSTS
Cytogenetic Map3p21.3UniSTS
HuRef350,393,179 - 50,393,323UniSTS
GeneMap99-GB4 RH Map3162.48UniSTS
NCBI RH Map3491.7UniSTS
HYAL1__6616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37350,337,306 - 50,338,216UniSTSGRCh37
Build 36350,312,310 - 50,313,220RGDNCBI36
Celera350,310,137 - 50,311,047RGD
HuRef350,393,049 - 50,393,959UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2020
Count of miRNA genes:693
Interacting mature miRNAs:780
Transcripts:ENST00000266031, ENST00000320295, ENST00000395143, ENST00000395144, ENST00000418723, ENST00000447605, ENST00000452672, ENST00000457214
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 507 705 1102 464 273 445 2145 556 560 298 335 1066 24 579 1315 1
Low 1907 1914 614 156 818 16 2191 1620 3115 107 1094 480 150 1 625 1473 4 2
Below cutoff 24 368 10 4 767 4 20 21 56 12 30 63 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF118821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF173154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF502904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF502905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF502906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF502907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF502908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX207167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA566755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U03056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U73167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U90094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U96078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000266031   ⟹   ENSP00000266031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl350,299,890 - 50,303,572 (-)Ensembl
RefSeq Acc Id: ENST00000320295   ⟹   ENSP00000346068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl350,299,894 - 50,312,381 (-)Ensembl
RefSeq Acc Id: ENST00000395143   ⟹   ENSP00000378575
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl350,300,311 - 50,303,573 (-)Ensembl
RefSeq Acc Id: ENST00000395144   ⟹   ENSP00000378576
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl350,299,893 - 50,303,574 (-)Ensembl
RefSeq Acc Id: ENST00000418723   ⟹   ENSP00000394526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl350,302,647 - 50,303,574 (-)Ensembl
RefSeq Acc Id: ENST00000447605   ⟹   ENSP00000390149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl350,300,482 - 50,303,573 (-)Ensembl
RefSeq Acc Id: ENST00000452672   ⟹   ENSP00000391666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl350,302,749 - 50,304,116 (-)Ensembl
RefSeq Acc Id: ENST00000457214   ⟹   ENSP00000393358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl350,300,482 - 50,303,573 (-)Ensembl
RefSeq Acc Id: ENST00000618175   ⟹   ENSP00000477903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl350,299,890 - 50,304,087 (-)Ensembl
RefSeq Acc Id: NM_033159   ⟹   NP_149349
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,299,893 - 50,303,574 (-)NCBI
GRCh37350,337,320 - 50,349,812 (-)ENTREZGENE
Build 36350,312,324 - 50,316,008 (-)NCBI Archive
HuRef350,393,063 - 50,405,514 (-)ENTREZGENE
CHM1_1350,289,626 - 50,293,338 (-)NCBI
Sequence:
RefSeq Acc Id: NM_153281   ⟹   NP_695013
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,299,893 - 50,312,381 (-)NCBI
GRCh37350,337,320 - 50,349,812 (-)ENTREZGENE
Build 36350,312,324 - 50,324,816 (-)NCBI Archive
HuRef350,393,063 - 50,405,514 (-)ENTREZGENE
CHM1_1350,289,626 - 50,302,099 (-)NCBI
Sequence:
RefSeq Acc Id: NM_153282   ⟹   NP_695014
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,299,893 - 50,303,574 (-)NCBI
GRCh37350,337,320 - 50,349,812 (-)ENTREZGENE
Build 36350,312,324 - 50,316,008 (-)NCBI Archive
HuRef350,393,063 - 50,405,514 (-)ENTREZGENE
CHM1_1350,289,626 - 50,293,338 (-)NCBI
Sequence:
RefSeq Acc Id: NM_153283   ⟹   NP_695015
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,299,893 - 50,303,574 (-)NCBI
GRCh37350,337,320 - 50,349,812 (-)ENTREZGENE
Build 36350,312,324 - 50,316,008 (-)NCBI Archive
HuRef350,393,063 - 50,405,514 (-)ENTREZGENE
CHM1_1350,289,626 - 50,293,338 (-)NCBI
Sequence:
RefSeq Acc Id: NM_153285   ⟹   NP_695017
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,299,893 - 50,303,574 (-)NCBI
GRCh37350,337,320 - 50,349,812 (-)ENTREZGENE
Build 36350,312,324 - 50,316,008 (-)NCBI Archive
HuRef350,393,063 - 50,405,514 (-)ENTREZGENE
CHM1_1350,289,626 - 50,293,338 (-)NCBI
Sequence:
RefSeq Acc Id: NR_047690
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,299,893 - 50,303,574 (-)NCBI
HuRef350,393,063 - 50,405,514 (-)NCBI
CHM1_1350,289,626 - 50,293,338 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533667   ⟹   XP_011531969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,299,889 - 50,310,018 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533668   ⟹   XP_011531970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,299,889 - 50,304,204 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533669   ⟹   XP_011531971
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,299,889 - 50,312,951 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_149349 (Get FASTA)   NCBI Sequence Viewer  
  NP_695013 (Get FASTA)   NCBI Sequence Viewer  
  NP_695014 (Get FASTA)   NCBI Sequence Viewer  
  NP_695015 (Get FASTA)   NCBI Sequence Viewer  
  NP_695017 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531969 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531970 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531971 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB67046 (Get FASTA)   NCBI Sequence Viewer  
  AAC02730 (Get FASTA)   NCBI Sequence Viewer  
  AAD04190 (Get FASTA)   NCBI Sequence Viewer  
  AAD09137 (Get FASTA)   NCBI Sequence Viewer  
  AAD24460 (Get FASTA)   NCBI Sequence Viewer  
  AAD53277 (Get FASTA)   NCBI Sequence Viewer  
  AAH25774 (Get FASTA)   NCBI Sequence Viewer  
  AAH35695 (Get FASTA)   NCBI Sequence Viewer  
  AAM60770 (Get FASTA)   NCBI Sequence Viewer  
  AAM60771 (Get FASTA)   NCBI Sequence Viewer  
  AAM60772 (Get FASTA)   NCBI Sequence Viewer  
  AAM60773 (Get FASTA)   NCBI Sequence Viewer  
  AAM60774 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33600 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33601 (Get FASTA)   NCBI Sequence Viewer  
  BAF83505 (Get FASTA)   NCBI Sequence Viewer  
  BAG53447 (Get FASTA)   NCBI Sequence Viewer  
  CAC60225 (Get FASTA)   NCBI Sequence Viewer  
  CAG46731 (Get FASTA)   NCBI Sequence Viewer  
  EAW65083 (Get FASTA)   NCBI Sequence Viewer  
  EAW65084 (Get FASTA)   NCBI Sequence Viewer  
  EAW65085 (Get FASTA)   NCBI Sequence Viewer  
  EAW65086 (Get FASTA)   NCBI Sequence Viewer  
  EAW65087 (Get FASTA)   NCBI Sequence Viewer  
  EAW65088 (Get FASTA)   NCBI Sequence Viewer  
  EAW65089 (Get FASTA)   NCBI Sequence Viewer  
  EAW65090 (Get FASTA)   NCBI Sequence Viewer  
  EAW65091 (Get FASTA)   NCBI Sequence Viewer  
  Q12794 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_695013   ⟸   NM_153281
- Peptide Label: isoform 1 precursor
- UniProtKB: Q12794 (UniProtKB/Swiss-Prot),   A0A024R2X3 (UniProtKB/TrEMBL),   B3KUI5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_695017   ⟸   NM_153285
- Peptide Label: isoform 5
- UniProtKB: Q12794 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_695015   ⟸   NM_153283
- Peptide Label: isoform 3
- UniProtKB: Q12794 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_695014   ⟸   NM_153282
- Peptide Label: isoform 2 precursor
- UniProtKB: Q12794 (UniProtKB/Swiss-Prot),   A0A0S2Z3Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_149349   ⟸   NM_033159
- Peptide Label: isoform 1 precursor
- UniProtKB: Q12794 (UniProtKB/Swiss-Prot),   A0A024R2X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531971   ⟸   XM_011533669
- Peptide Label: isoform X1
- UniProtKB: Q12794 (UniProtKB/Swiss-Prot),   A0A024R2X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531969   ⟸   XM_011533667
- Peptide Label: isoform X1
- UniProtKB: Q12794 (UniProtKB/Swiss-Prot),   A0A024R2X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531970   ⟸   XM_011533668
- Peptide Label: isoform X1
- UniProtKB: Q12794 (UniProtKB/Swiss-Prot),   A0A024R2X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000266031   ⟸   ENST00000266031
RefSeq Acc Id: ENSP00000391666   ⟸   ENST00000452672
RefSeq Acc Id: ENSP00000346068   ⟸   ENST00000320295
RefSeq Acc Id: ENSP00000393358   ⟸   ENST00000457214
RefSeq Acc Id: ENSP00000394526   ⟸   ENST00000418723
RefSeq Acc Id: ENSP00000477903   ⟸   ENST00000618175
RefSeq Acc Id: ENSP00000390149   ⟸   ENST00000447605
RefSeq Acc Id: ENSP00000378576   ⟸   ENST00000395144
RefSeq Acc Id: ENSP00000378575   ⟸   ENST00000395143
Protein Domains
EGF-like

Promoters
RGD ID:6864506
Promoter ID:EPDNEW_H5417
Type:multiple initiation site
Name:HYAL1_1
Description:hyaluronoglucosaminidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38350,303,574 - 50,303,634EPDNEW
RGD ID:6801139
Promoter ID:HG_KWN:45130
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:NM_153282,   NM_153283,   NM_153285,   OTTHUMT00000346699,   OTTHUMT00000346705,   OTTHUMT00000346706,   UC003CZN.1,   UC003CZR.1,   UC003CZT.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36350,315,281 - 50,315,982 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_033159.4(HYAL1):c.751_787delinsTTCCGTGTGGCCCG (p.Val251fs) indel Deficiency of hyaluronoglucosaminidase [RCV000003709] Chr3:50302170..50302206 [GRCh38]
Chr3:50339601..50339637 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000638848] Chr3:50302212 [GRCh38]
Chr3:50339643 [GRCh37]
Chr3:3p21.31
benign
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000003708] Chr3:50302155 [GRCh38]
Chr3:50339586 [GRCh37]
Chr3:3p21.31
pathogenic|uncertain significance
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3
pathogenic
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 copy number gain See cases [RCV000133650] Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2
pathogenic
GRCh37/hg19 3p21.31(chr3:50273827-50403519)x3 copy number gain Ductal breast carcinoma [RCV000207033] Chr3:50273827..50403519 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_153281.1(HYAL1):c.-240A>G single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000286541] Chr3:50309708 [GRCh38]
Chr3:50347139 [GRCh37]
Chr3:3p21.31
benign|uncertain significance
NM_033159.4(HYAL1):c.*459G>A single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000279810] Chr3:50300024 [GRCh38]
Chr3:50337455 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000274618] Chr3:50302687 [GRCh38]
Chr3:50340118 [GRCh37]
Chr3:3p21.31
benign|likely benign
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000276158]|not provided [RCV000675875] Chr3:50302191 [GRCh38]
Chr3:50339622 [GRCh37]
Chr3:3p21.31
benign|likely benign
NM_153281.1(HYAL1):c.-89G>A single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000374910] Chr3:50303852 [GRCh38]
Chr3:50341283 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000314860] Chr3:50302327 [GRCh38]
Chr3:50339758 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_153281.1(HYAL1):c.-132G>A single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000316941] Chr3:50303895 [GRCh38]
Chr3:50341326 [GRCh37]
Chr3:3p21.31
benign
NM_153281.1(HYAL1):c.-272C>T single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000378156] Chr3:50309740 [GRCh38]
Chr3:50347171 [GRCh37]
Chr3:3p21.31
benign|uncertain significance
NM_033159.4(HYAL1):c.*221T>C single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000401455] Chr3:50300262 [GRCh38]
Chr3:50337693 [GRCh37]
Chr3:3p21.31
benign|uncertain significance
NM_033159.4(HYAL1):c.*173T>C single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000303147] Chr3:50300310 [GRCh38]
Chr3:50337741 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.-5G>A single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000317945] Chr3:50302961 [GRCh38]
Chr3:50340392 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_153281.1(HYAL1):c.-241C>A single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000339823] Chr3:50309709 [GRCh38]
Chr3:50347140 [GRCh37]
Chr3:3p21.31
likely benign|uncertain significance
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000306538]|not provided [RCV000675874] Chr3:50300616 [GRCh38]
Chr3:50338047 [GRCh37]
Chr3:3p21.31
benign|likely benign
NM_033159.4(HYAL1):c.*434C>T single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000341886] Chr3:50300049 [GRCh38]
Chr3:50337480 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.846G>A (p.Pro282=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000363589] Chr3:50302111 [GRCh38]
Chr3:50339542 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000346452] Chr3:50300499 [GRCh38]
Chr3:50337930 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.384C>T (p.Ile128=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000366868] Chr3:50302573 [GRCh38]
Chr3:50340004 [GRCh37]
Chr3:3p21.31
benign|likely benign
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000391652]|not provided [RCV000675873] Chr3:50300514 [GRCh38]
Chr3:50337945 [GRCh37]
Chr3:3p21.31
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153281.1(HYAL1):c.-414G>A single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000351154] Chr3:50312368 [GRCh38]
Chr3:50349799 [GRCh37]
Chr3:3p21.31
benign|uncertain significance
NM_033159.4(HYAL1):c.*492C>T single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000372088] Chr3:50299991 [GRCh38]
Chr3:50337422 [GRCh37]
Chr3:3p21.31
benign|likely benign
NM_153281.1(HYAL1):c.-90C>T single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000259390] Chr3:50303853 [GRCh38]
Chr3:50341284 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_153281.1(HYAL1):c.-384G>A single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000399789] Chr3:50312338 [GRCh38]
Chr3:50349769 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_153281.1(HYAL1):c.-320_-319del deletion Deficiency of hyaluronoglucosaminidase [RCV000347817] Chr3:50312273..50312274 [GRCh38]
Chr3:50349704..50349705 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_153281.1(HYAL1):c.-395G>A single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000308107] Chr3:50312349 [GRCh38]
Chr3:50349780 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_153281.1(HYAL1):c.-310+9dup duplication Deficiency of hyaluronoglucosaminidase [RCV000290564] Chr3:50312251..50312252 [GRCh38]
Chr3:50349682..50349683 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_153281.1(HYAL1):c.-191+15A>G single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000378624] Chr3:50309644 [GRCh38]
Chr3:50347075 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.600C>A (p.Gly200=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001080067]|not provided [RCV000730485] Chr3:50302357 [GRCh38]
Chr3:50339788 [GRCh37]
Chr3:3p21.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_033159.4(HYAL1):c.408C>T (p.Arg136=) single nucleotide variant not provided [RCV000976808] Chr3:50302549 [GRCh38]
Chr3:50339980 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.966G>A (p.Val322=) single nucleotide variant not provided [RCV000978770] Chr3:50301012 [GRCh38]
Chr3:50338443 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001146638] Chr3:50300535 [GRCh38]
Chr3:50337966 [GRCh37]
Chr3:3p21.31
uncertain significance
NC_000003.11:g.(?_50339478)_(50341042_?)del deletion Deficiency of hyaluronoglucosaminidase [RCV001031180] Chr3:50339478..50341042 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033159.4(HYAL1):c.936C>T (p.Ala312=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000884940] Chr3:50301042 [GRCh38]
Chr3:50338473 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000899456] Chr3:50302538 [GRCh38]
Chr3:50339969 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.276G>A (p.Val92=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000928872] Chr3:50302681 [GRCh38]
Chr3:50340112 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.408C>A (p.Arg136=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000923985] Chr3:50302549 [GRCh38]
Chr3:50339980 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.150C>T (p.Asp50=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000944428] Chr3:50302807 [GRCh38]
Chr3:50340238 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.189G>A (p.Gly63=) single nucleotide variant not provided [RCV000983216] Chr3:50302768 [GRCh38]
Chr3:50340199 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.483T>C (p.Asp161=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000915099] Chr3:50302474 [GRCh38]
Chr3:50339905 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.774A>G (p.Ser258=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000979857] Chr3:50302183 [GRCh38]
Chr3:50339614 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.588C>T (p.Arg196=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000983207] Chr3:50302369 [GRCh38]
Chr3:50339800 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.919C>T (p.Leu307=) single nucleotide variant not provided [RCV000943020] Chr3:50301059 [GRCh38]
Chr3:50338490 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000970297] Chr3:50302503 [GRCh38]
Chr3:50339934 [GRCh37]
Chr3:3p21.31
likely benign
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1
pathogenic
NM_033159.4(HYAL1):c.133G>T (p.Glu45Ter) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000797408] Chr3:50302824 [GRCh38]
Chr3:50340255 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033159.4(HYAL1):c.222C>T (p.Phe74=) single nucleotide variant not provided [RCV000976445] Chr3:50302735 [GRCh38]
Chr3:50340166 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.323G>A (p.Arg108His) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000893504] Chr3:50302634 [GRCh38]
Chr3:50340065 [GRCh37]
Chr3:3p21.31
benign
NM_033159.4(HYAL1):c.747C>T (p.Pro249=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000941782] Chr3:50302210 [GRCh38]
Chr3:50339641 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001146639] Chr3:50300615 [GRCh38]
Chr3:50338046 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_153281.1(HYAL1):c.-237A>T single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001150878] Chr3:50309705 [GRCh38]
Chr3:50347136 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.1112G>A (p.Arg371His) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001243172] Chr3:50300679 [GRCh38]
Chr3:50338110 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.441C>G (p.Tyr147Ter) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001210913] Chr3:50302516 [GRCh38]
Chr3:50339947 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033159.4(HYAL1):c.1088G>C (p.Cys363Ser) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001146640] Chr3:50300703 [GRCh38]
Chr3:50338134 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001147552] Chr3:50302278 [GRCh38]
Chr3:50339709 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.*106G>C single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001144679] Chr3:50300377 [GRCh38]
Chr3:50337808 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_153281.1(HYAL1):c.-271G>A single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001144776] Chr3:50309739 [GRCh38]
Chr3:50347170 [GRCh37]
Chr3:3p21.31
benign
NM_033159.4(HYAL1):c.915C>T (p.His305=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000944565] Chr3:50301063 [GRCh38]
Chr3:50338494 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000917360] Chr3:50300750 [GRCh38]
Chr3:50338181 [GRCh37]
Chr3:3p21.31
likely benign|conflicting interpretations of pathogenicity
NM_033159.4(HYAL1):c.618C>T (p.Asp206=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV000932937] Chr3:50302339 [GRCh38]
Chr3:50339770 [GRCh37]
Chr3:3p21.31
likely benign
NM_033159.4(HYAL1):c.408C>G (p.Arg136=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001244737] Chr3:50302549 [GRCh38]
Chr3:50339980 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001146637] Chr3:50300501 [GRCh38]
Chr3:50337932 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.44del (p.Leu15fs) deletion Deficiency of hyaluronoglucosaminidase [RCV001223938] Chr3:50302913 [GRCh38]
Chr3:50340344 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033159.4(HYAL1):c.621C>A (p.Cys207Ter) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001237761] Chr3:50302336 [GRCh38]
Chr3:50339767 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033159.4(HYAL1):c.773C>G (p.Ser258Ter) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001227573] Chr3:50302184 [GRCh38]
Chr3:50339615 [GRCh37]
Chr3:3p21.31
pathogenic
NM_033159.4(HYAL1):c.853C>T (p.Pro285Ser) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001044240] Chr3:50302104 [GRCh38]
Chr3:50339535 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.*333C>G single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001144678] Chr3:50300150 [GRCh38]
Chr3:50337581 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_153281.1(HYAL1):c.-319T>C single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001144777] Chr3:50312273 [GRCh38]
Chr3:50349704 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.168C>T (p.Phe56=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001150877] Chr3:50302789 [GRCh38]
Chr3:50340220 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=) single nucleotide variant Deficiency of hyaluronoglucosaminidase [RCV001146641] Chr3:50300744 [GRCh38]
Chr3:50338175 [GRCh37]
Chr3:3p21.31
uncertain significance
GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1 copy number loss not provided [RCV001259686] Chr3:48807193..51363558 [GRCh37]
Chr3:3p21.31-21.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5320 AgrOrtholog
COSMIC HYAL1 COSMIC
Ensembl Genes ENSG00000114378 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000266031 UniProtKB/Swiss-Prot
  ENSP00000346068 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378575 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378576 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000390149 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391666 UniProtKB/TrEMBL
  ENSP00000393358 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394526 UniProtKB/TrEMBL
  ENSP00000477903 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000266031 UniProtKB/Swiss-Prot
  ENST00000320295 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395143 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395144 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000418723 UniProtKB/TrEMBL
  ENST00000447605 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000452672 UniProtKB/TrEMBL
  ENST00000457214 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000618175 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000114378 GTEx
HGNC ID HGNC:5320 ENTREZGENE
Human Proteome Map HYAL1 Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hyaluronidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3373 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3373 ENTREZGENE
OMIM 601492 OMIM
  607071 OMIM
PANTHER PTHR11769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_hydro_56 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29571 PharmGKB
PIRSF Hyaluronidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS GLHYDRLASE56 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EGF_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.75619 ENTREZGENE
UniProt A0A024R2X3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3Q0 ENTREZGENE, UniProtKB/TrEMBL
  B3KUI5 ENTREZGENE, UniProtKB/TrEMBL
  C9JB49_HUMAN UniProtKB/TrEMBL
  C9JRK1_HUMAN UniProtKB/TrEMBL
  HYAL1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A0S2Z409 UniProtKB/TrEMBL
  Q6FH23 UniProtKB/Swiss-Prot
  Q6PIZ6 UniProtKB/Swiss-Prot
  Q7KYU2 UniProtKB/Swiss-Prot
  Q7LE34 UniProtKB/Swiss-Prot
  Q8NFK5 UniProtKB/Swiss-Prot
  Q8NFK6 UniProtKB/Swiss-Prot
  Q8NFK7 UniProtKB/Swiss-Prot
  Q8NFK8 UniProtKB/Swiss-Prot
  Q8NFK9 UniProtKB/Swiss-Prot
  Q93013 UniProtKB/Swiss-Prot
  Q9UKD5 UniProtKB/Swiss-Prot
  Q9UNI8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-07 HYAL1  hyaluronidase 1    hyaluronoglucosaminidase 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 HYAL1  hyaluronoglucosaminidase 1  HYAL1  hyaluronoglucosaminidase 1  Symbol and/or name change 5135510 APPROVED