KLHL31 (kelch like family member 31) - Chinchilla Research Resource Database
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Gene: KLHL31 (kelch like family member 31) Homo sapiens
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Symbol: KLHL31
Name: kelch like family member 31
CRRD ID: 1348720
Description: Involved in negative regulation of JNK cascade. Localizes to cytoplasm and nucleus; INTERACTS WITH 17beta-estradiol; doxorubicin; hydroquinone.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: bA345L23.2; BKLHD6; BTB and kelch domain-containing protein 6; KBTBD1; kelch repeat and BTB (POZ) domain containing 1; kelch repeat and BTB domain-containing protein 1; kelch-like family member 31; kelch-like protein 31; kelch-like protein KLHL; KLHL
Orthologs:
Mus musculus (house mouse) : Klhl31 (kelch-like 31)  MGI  Alliance
Rattus norvegicus (Norway rat) : Klhl31 (kelch-like family member 31)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Klhl31 (kelch like family member 31)
Pan paniscus (bonobo/pygmy chimpanzee) : KLHL31 (kelch like family member 31)
Canis lupus familiaris (dog) : KLHL31 (kelch like family member 31)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Klhl31 (kelch like family member 31)
Sus scrofa (pig) : KLHL31 (kelch like family member 31)
Chlorocebus sabaeus (African green monkey) : KLHL31 (kelch like family member 31)
Heterocephalus glaber (naked mole-rat) : Klhl31 (kelch like family member 31)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl653,647,916 - 53,665,756 (-)EnsemblGRCh38hg38GRCh38
GRCh38653,647,916 - 53,665,854 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37653,512,699 - 53,530,506 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36653,620,658 - 53,638,465 (-)NCBINCBI36hg18NCBI36
Celera655,174,866 - 55,192,685 (-)NCBI
Cytogenetic Map6p12.1NCBI
HuRef653,344,091 - 53,361,913 (-)NCBIHuRef
CHM1_1653,514,485 - 53,532,311 (-)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

Biological Process

Cellular Component
cytoplasm  (IDA)
nucleus  (IDA)

References

Additional References at PubMed
PMID:12477932   PMID:14574404   PMID:14702039   PMID:15302408   PMID:18719355   PMID:23251661   PMID:23676014  


Genomics

Comparative Map Data
KLHL31
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl653,647,916 - 53,665,756 (-)EnsemblGRCh38hg38GRCh38
GRCh38653,647,916 - 53,665,854 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37653,512,699 - 53,530,506 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36653,620,658 - 53,638,465 (-)NCBINCBI36hg18NCBI36
Celera655,174,866 - 55,192,685 (-)NCBI
Cytogenetic Map6p12.1NCBI
HuRef653,344,091 - 53,361,913 (-)NCBIHuRef
CHM1_1653,514,485 - 53,532,311 (-)NCBICHM1_1
Klhl31
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39977,544,014 - 77,567,407 (+)NCBI
GRCm38977,636,732 - 77,660,125 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl977,636,500 - 77,660,127 (+)EnsemblGRCm38mm10GRCm38
MGSCv37977,484,539 - 77,507,932 (+)NCBIGRCm37mm9NCBIm37
MGSCv36977,422,425 - 77,442,040 (+)NCBImm8
Celera974,815,043 - 74,838,220 (+)NCBICelera
Cytogenetic Map9D-E1NCBI
Klhl31
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0884,945,444 - 84,968,811 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl884,945,444 - 84,968,811 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0884,514,686 - 84,537,779 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4882,609,180 - 82,633,422 (+)NCBIRGSC3.4rn4RGSC3.4
Celera878,265,590 - 78,288,826 (+)NCBICelera
Cytogenetic Map8q24NCBI
Klhl31
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554112,457,750 - 2,461,680 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554112,449,241 - 2,461,779 (+)NCBIChiLan1.0ChiLan1.0
KLHL31
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1654,839,066 - 54,893,501 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl654,839,066 - 54,893,640 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0653,201,483 - 53,351,320 (-)NCBI
KLHL31
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1221,156,440 - 21,160,527 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11221,153,843 - 21,201,345 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Klhl31
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364767,269,396 - 7,287,617 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KLHL31
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl727,062,044 - 27,106,111 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1727,088,393 - 27,106,104 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2731,581,623 - 31,599,294 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KLHL31
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl1718,892,065 - 18,906,360 (+)Ensembl
ChlSab1.11718,843,757 - 18,910,041 (+)NCBI
Klhl31
(Heterocephalus glaber - naked mole-rat)
No map positions available.

Position Markers
SHGC-80641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37653,526,586 - 53,526,904UniSTSGRCh37
Build 36653,634,545 - 53,634,863RGDNCBI36
Celera655,188,765 - 55,189,083RGD
Cytogenetic Map6p12.1UniSTS
HuRef653,357,993 - 53,358,311UniSTS
TNG Radiation Hybrid Map626705.0UniSTS
G63292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37653,514,005 - 53,514,290UniSTSGRCh37
Build 36653,621,964 - 53,622,249RGDNCBI36
Celera655,176,172 - 55,176,457RGD
Cytogenetic Map6p12.1UniSTS
HuRef653,345,397 - 53,345,682UniSTS
TNG Radiation Hybrid Map626671.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1353
Count of miRNA genes:797
Interacting mature miRNAs:939
Transcripts:ENST00000370905, ENST00000407079
Prediction methods: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 3 728 3 3 1 597 874 1 8 9 5 130 556
Low 527 292 1338 319 206 179 2406 415 727 203 905 1140 151 1 1004 1119 3 1
Below cutoff 1882 1702 371 290 1248 274 1272 892 2950 207 525 450 17 70 1062 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000370905   ⟹   ENSP00000359942
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl653,647,916 - 53,665,756 (-)Ensembl
RefSeq Acc Id: ENST00000407079   ⟹   ENSP00000384644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl653,651,598 - 53,655,272 (-)Ensembl
RefSeq Acc Id: NM_001003760   ⟹   NP_001003760
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,647,916 - 53,665,756 (-)NCBI
GRCh37653,512,699 - 53,530,506 (-)RGD
Build 36653,620,658 - 53,638,465 (-)NCBI Archive
Celera655,174,866 - 55,192,685 (-)RGD
HuRef653,344,091 - 53,361,913 (-)ENTREZGENE
CHM1_1653,514,485 - 53,532,311 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249107   ⟹   XP_005249164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,651,518 - 53,665,854 (-)NCBI
GRCh37653,512,699 - 53,530,506 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010858   ⟹   XP_016866347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,651,518 - 53,665,501 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001003760   ⟸   NM_001003760
- UniProtKB: Q9H511 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005249164   ⟸   XM_005249107
- Peptide Label: isoform X1
- UniProtKB: Q9H511 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016866347   ⟸   XM_017010858
- Peptide Label: isoform X1
- UniProtKB: Q9H511 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359942   ⟸   ENST00000370905
RefSeq Acc Id: ENSP00000384644   ⟸   ENST00000407079
Protein Domains
BACK   BTB

Promoters
RGD ID:7208349
Promoter ID:EPDNEW_H9921
Type:initiation region
Name:KLHL31_2
Description:kelch like family member 31
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9922  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,665,756 - 53,665,816EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001003760.4(KLHL31):c.1173-70G>A single nucleotide variant Malignant melanoma [RCV000067411] Chr6:53652400 [GRCh38]
Chr6:53517198 [GRCh37]
Chr6:53625157 [NCBI36]
Chr6:6p12.1
not provided
GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1 copy number loss See cases [RCV000134922] Chr6:50971182..57432788 [GRCh38]
Chr6:50938895..57297586 [GRCh37]
Chr6:51046854..57405545 [NCBI36]
Chr6:6p12.3-11.2
pathogenic
GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4 copy number gain See cases [RCV000137095] Chr6:51093754..53859634 [GRCh38]
Chr6:51061467..53724432 [GRCh37]
Chr6:51169426..53832391 [NCBI36]
Chr6:6p12.3-12.1
pathogenic
GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1 copy number loss See cases [RCV000138349] Chr6:45681671..54212044 [GRCh38]
Chr6:45649408..54076842 [GRCh37]
Chr6:45757386..54184801 [NCBI36]
Chr6:6p21.1-12.1
pathogenic|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p12.1(chr6:53504277-53517035)x1 copy number loss not provided [RCV000745723] Chr6:53504277..53517035 [GRCh37]
Chr6:6p12.1
benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21353 AgrOrtholog
COSMIC KLHL31 COSMIC
Ensembl Genes ENSG00000124743 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000359942 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384644 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370905 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000407079 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.120.10.80 UniProtKB/Swiss-Prot
GTEx ENSG00000124743 GTEx
HGNC ID HGNC:21353 ENTREZGENE
Human Proteome Map KLHL31 Human Proteome Map
InterPro BACK UniProtKB/Swiss-Prot
  BTB-kelch_protein UniProtKB/Swiss-Prot
  BTB/POZ_dom UniProtKB/Swiss-Prot
  Kelch-typ_b-propeller UniProtKB/Swiss-Prot
  Kelch_1 UniProtKB/Swiss-Prot
  KLHL31 UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot
KEGG Report hsa:401265 UniProtKB/Swiss-Prot
NCBI Gene 401265 ENTREZGENE
OMIM 610749 OMIM
PANTHER PTHR45632:SF17 UniProtKB/Swiss-Prot
Pfam BACK UniProtKB/Swiss-Prot
  BTB UniProtKB/Swiss-Prot
  Kelch_1 UniProtKB/Swiss-Prot
PharmGKB PA162393541 PharmGKB
PIRSF Kelch-like_protein_gigaxonin UniProtKB/Swiss-Prot
PROSITE BTB UniProtKB/Swiss-Prot
SMART BACK UniProtKB/Swiss-Prot
  BTB UniProtKB/Swiss-Prot
  Kelch UniProtKB/Swiss-Prot
Superfamily-SCOP SSF117281 UniProtKB/Swiss-Prot
  SSF54695 UniProtKB/Swiss-Prot
UniGene Hs.131064 ENTREZGENE
UniProt KLH31_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A6N9J2 UniProtKB/Swiss-Prot
  B2RP49 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 KLHL31  kelch like family member 31    kelch-like family member 31  Symbol and/or name change 5135510 APPROVED
2013-02-27 KLHL31  kelch-like family member 31    kelch-like 31 (Drosophila)  Symbol and/or name change 5135510 APPROVED

 



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.