DACT1 (dishevelled binding antagonist of beta catenin 1) - Chinchilla Research Resource Database
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Gene: DACT1 (dishevelled binding antagonist of beta catenin 1) Homo sapiens
Analyze
Symbol: DACT1
Name: dishevelled binding antagonist of beta catenin 1
CRRD ID: 1348421
Description: Exhibits several functions, including RNA polymerase II transcription factor binding activity; beta-catenin binding activity; and histone deacetylase binding activity. Involved in several processes, including negative regulation of beta-catenin-TCF complex assembly; regulation of canonical Wnt signaling pathway; and regulation of cellular protein metabolic process. Localizes to cytoplasm and nucleoplasm. Colocalizes with beta-catenin destruction complex. Implicated in Townes-Brocks syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DAPPER; dapper antagonist of catenin 1; dapper homolog 1; dapper homolog 1, antagonist of beta-catenin; dapper homolog 1, antagonist of beta-catenin (xenopus); dapper, antagonist of beta-catenin, homolog 1; DAPPER1; dishevelled-binding antagonist of beta-catenin 1; DPR1; FRODO; HDPR1; hepatocellular carcinoma novel gene 3 protein; heptacellular carcinoma novel gene 3; TBS2; THYEX3
Orthologs:
Mus musculus (house mouse) : Dact1 (dishevelled-binding antagonist of beta-catenin 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Dact1 (dishevelled-binding antagonist of beta-catenin 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Dact1 (dishevelled binding antagonist of beta catenin 1)
Pan paniscus (bonobo/pygmy chimpanzee) : DACT1 (dishevelled binding antagonist of beta catenin 1)
Canis lupus familiaris (dog) : DACT1 (dishevelled binding antagonist of beta catenin 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Dact1 (dishevelled binding antagonist of beta catenin 1)
Sus scrofa (pig) : DACT1 (dishevelled binding antagonist of beta catenin 1)
Chlorocebus sabaeus (African green monkey) : DACT1 (dishevelled binding antagonist of beta catenin 1)
Heterocephalus glaber (naked mole-rat) : Dact1 (dishevelled binding antagonist of beta catenin 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1458,633,967 - 58,648,321 (+)EnsemblGRCh38hg38GRCh38
GRCh381458,634,061 - 58,648,321 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371459,100,786 - 59,115,039 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361458,174,510 - 58,184,792 (+)NCBINCBI36hg18NCBI36
Build 341458,174,611 - 58,184,789NCBI
Celera1439,154,745 - 39,165,027 (+)NCBI
Cytogenetic Map14q23.1NCBI
HuRef1439,264,994 - 39,279,247 (+)NCBIHuRef
CHM1_11459,039,260 - 59,053,513 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (ISO)
arsenous acid  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
calciol  (ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
clothianidin  (EXP)
cobalt dichloride  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
ethanol  (EXP)
flusilazole  (ISO)
folic acid  (ISO)
indometacin  (EXP)
L-methionine  (ISO)
manganese(II) chloride  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
panobinostat  (EXP)
paracetamol  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP)
raloxifene  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP,ISO)
vitamin E  (EXP)
vorinostat  (EXP)


Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal pulmonary valve morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of the ribs  (IAGP)
Abnormality of the tragus  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of vision  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anal atresia  (IAGP)
Anencephaly  (IAGP)
Anteriorly placed anus  (IAGP)
Aplasia/Hypoplasia of the 3rd toe  (IAGP)
Arnold-Chiari malformation  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid scrotum  (IAGP)
Bifid sternum  (IAGP)
Bifid uterus  (IAGP)
Blepharophimosis  (IAGP)
Bowel incontinence  (IAGP)
Broad hallux phalanx  (IAGP)
Broad thumb  (IAGP)
Cataract  (IAGP)
Cervical spina bifida  (IAGP)
Chorioretinal coloboma  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Constipation  (IAGP)
Cranial nerve paralysis  (IAGP)
Crossed fused renal ectopia  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Delayed puberty  (IAGP)
Ectopic kidney  (IAGP)
External ear malformation  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Hearing impairment  (IAGP)
Hypoplasia of penis  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Limbal dermoid  (IAGP)
Lower limb asymmetry  (IAGP)
Microphthalmia  (IAGP)
Microtia  (IAGP)
Multiple renal cysts  (IAGP)
Myelomeningocele  (IAGP)
Omphalocele  (IAGP)
Overfolded helix  (IAGP)
Partial duplication of thumb phalanx  (IAGP)
Patent ductus arteriosus  (IAGP)
Pes planus  (IAGP)
Preauricular skin tag  (IAGP)
Preaxial hand polydactyly  (IAGP)
Rectoperineal fistula  (IAGP)
Rectovaginal fistula  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Scoliosis  (IAGP)
Short stature  (IAGP)
Sirenomelia  (IAGP)
Spina bifida occulta  (IAGP)
Strabismus  (IAGP)
Subcutaneous nodule  (IAGP)
Tetralogy of Fallot  (IAGP)
Toe clinodactyly  (IAGP)
Toe syndactyly  (IAGP)
Triphalangeal thumb  (IAGP)
Ulnar deviation of finger  (IAGP)
Urethral valve  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide mouth  (IAGP)
References

Additional References at PubMed
PMID:8889548   PMID:11970895   PMID:12508121   PMID:12632086   PMID:15146197   PMID:15580286   PMID:16446366   PMID:17197390   PMID:18029348   PMID:18936100   PMID:19073771   PMID:19733838  
PMID:20232357   PMID:20844743   PMID:21176356   PMID:21262972   PMID:21282530   PMID:21382349   PMID:21525190   PMID:21718540   PMID:21873635   PMID:21900206   PMID:22470507   PMID:22610794  
PMID:23073659   PMID:23696638   PMID:24980960   PMID:25424899   PMID:25524937   PMID:25558878   PMID:25825496   PMID:26091241   PMID:26099026   PMID:27714812   PMID:27833078   PMID:28054444  
PMID:28077137   PMID:28237722   PMID:28839145   PMID:29037126   PMID:30547803  


Genomics

Comparative Map Data
DACT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1458,633,967 - 58,648,321 (+)EnsemblGRCh38hg38GRCh38
GRCh381458,634,061 - 58,648,321 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371459,100,786 - 59,115,039 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361458,174,510 - 58,184,792 (+)NCBINCBI36hg18NCBI36
Build 341458,174,611 - 58,184,789NCBI
Celera1439,154,745 - 39,165,027 (+)NCBI
Cytogenetic Map14q23.1NCBI
HuRef1439,264,994 - 39,279,247 (+)NCBIHuRef
CHM1_11459,039,260 - 59,053,513 (+)NCBICHM1_1
Dact1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391271,356,658 - 71,366,881 (+)NCBI
GRCm381271,309,884 - 71,320,107 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1271,309,884 - 71,320,107 (+)EnsemblGRCm38mm10GRCm38
MGSCv371272,410,871 - 72,421,094 (+)NCBIGRCm37mm9NCBIm37
MGSCv361272,228,589 - 72,237,499 (+)NCBImm8
Celera1272,410,534 - 72,420,756 (+)NCBICelera
Cytogenetic Map12C3NCBI
Dact1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0693,740,440 - 93,751,003 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl693,740,586 - 93,749,809 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06103,201,826 - 103,212,384 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4693,402,304 - 93,411,668 (+)NCBIRGSC3.4rn4RGSC3.4
Celera688,272,055 - 88,282,541 (+)NCBICelera
Cytogenetic Map6q24NCBI
Dact1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546612,367,775 - 12,373,036 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546612,367,760 - 12,374,141 (+)NCBIChiLan1.0ChiLan1.0
DACT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11457,498,901 - 57,510,019 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1457,499,906 - 57,510,019 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01439,231,910 - 39,242,353 (+)NCBI
DACT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl833,949,926 - 33,958,449 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1833,950,016 - 33,959,671 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dact1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364953,017,029 - 3,026,759 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DACT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1187,719,162 - 187,729,925 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11187,719,391 - 187,729,568 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
DACT1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl2435,821,990 - 35,832,712 (+)Ensembl
ChlSab1.12435,821,518 - 35,832,486 (+)NCBI
Dact1
(Heterocephalus glaber - naked mole-rat)
No map positions available.

Position Markers
RH135896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371459,114,676 - 59,114,870UniSTSGRCh37
Build 361458,184,429 - 58,184,623RGDNCBI36
Celera1439,164,664 - 39,164,858RGD
HuRef1439,278,884 - 39,279,078UniSTS
DACT1_8041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371459,114,457 - 59,115,181UniSTSGRCh37
Build 361458,184,210 - 58,184,934RGDNCBI36
Celera1439,164,445 - 39,165,169RGD
HuRef1439,278,665 - 39,279,389UniSTS
RH98203  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q23.1UniSTS
GeneMap99-GB4 RH Map14134.21UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1216
Count of miRNA genes:730
Interacting mature miRNAs:820
Transcripts:ENST00000335867, ENST00000395153, ENST00000421793, ENST00000541264, ENST00000555845, ENST00000556859
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 adipose tissue appendage entire extraembryonic component
High
Medium 389 1366 588 23 257 16 1752 148 1185 86 903 867 10 418 1285 1
Low 1977 922 1082 549 930 395 2408 1784 2426 301 482 650 158 785 1322 1
Below cutoff 40 682 48 46 674 48 193 260 98 24 46 57 1 1 181

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF251079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI803159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY603415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK000256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU742074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX161433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN304224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR001289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR157190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000335867   ⟹   ENSP00000337439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1458,638,179 - 58,647,170 (+)Ensembl
RefSeq Acc Id: ENST00000395153   ⟹   ENSP00000378582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1458,638,056 - 58,648,321 (+)Ensembl
RefSeq Acc Id: ENST00000421793   ⟹   ENSP00000404297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1458,634,081 - 58,645,856 (+)Ensembl
RefSeq Acc Id: ENST00000541264   ⟹   ENSP00000442850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1458,638,837 - 58,647,263 (+)Ensembl
RefSeq Acc Id: ENST00000555845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1458,633,967 - 58,645,472 (+)Ensembl
RefSeq Acc Id: ENST00000556859   ⟹   ENSP00000451598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1458,634,068 - 58,647,200 (+)Ensembl
RefSeq Acc Id: NM_001079520   ⟹   NP_001072988
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,637,962 - 58,648,321 (+)NCBI
GRCh371459,100,786 - 59,115,039 (+)NCBI
Build 361458,174,510 - 58,184,792 (+)NCBI Archive
Celera1439,154,745 - 39,165,027 (+)RGD
HuRef1439,264,994 - 39,279,247 (+)NCBI
CHM1_11459,043,231 - 59,053,513 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016651   ⟹   NP_057735
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,637,962 - 58,648,321 (+)NCBI
GRCh371459,100,786 - 59,115,039 (+)NCBI
Build 361458,174,510 - 58,184,792 (+)NCBI Archive
Celera1439,154,745 - 39,165,027 (+)RGD
HuRef1439,264,994 - 39,279,247 (+)NCBI
CHM1_11459,043,231 - 59,053,513 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046093
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,634,061 - 58,648,321 (+)NCBI
GRCh371459,100,786 - 59,115,039 (+)NCBI
HuRef1439,264,994 - 39,279,247 (+)NCBI
CHM1_11459,039,260 - 59,053,513 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046095
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,638,837 - 58,648,321 (+)NCBI
GRCh371459,100,786 - 59,115,039 (+)NCBI
HuRef1439,264,994 - 39,279,247 (+)NCBI
CHM1_11459,044,029 - 59,053,513 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165650
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,634,061 - 58,648,321 (+)NCBI
RefSeq Acc Id: NR_165651
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,638,837 - 58,648,321 (+)NCBI
RefSeq Acc Id: NR_165652
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,638,837 - 58,648,321 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_001072988   ⟸   NM_001079520
- Peptide Label: isoform 2
- UniProtKB: Q9NYF0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_057735   ⟸   NM_016651
- Peptide Label: isoform 1
- UniProtKB: Q9NYF0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000442850   ⟸   ENST00000541264
RefSeq Acc Id: ENSP00000451598   ⟸   ENST00000556859
RefSeq Acc Id: ENSP00000337439   ⟸   ENST00000335867
RefSeq Acc Id: ENSP00000378582   ⟸   ENST00000395153
RefSeq Acc Id: ENSP00000404297   ⟸   ENST00000421793

Promoters
RGD ID:6791473
Promoter ID:HG_KWN:19484
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000395153,   NM_016651
Position:
Human AssemblyChrPosition (strand)Source
Build 361458,173,986 - 58,175,012 (+)MPROMDB
RGD ID:7227749
Promoter ID:EPDNEW_H19620
Type:initiation region
Name:DACT1_1
Description:dishevelled binding antagonist of beta catenin 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
GRCh381458,638,160 - 58,638,220EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1 copy number loss See cases [RCV000051521] Chr14:57041036..67208231 [GRCh38]
Chr14:57507754..67674948 [GRCh37]
Chr14:56577507..66744701 [NCBI36]
Chr14:14q22.3-23.3
pathogenic
GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1 copy number loss See cases [RCV000051522] Chr14:58146022..61273619 [GRCh38]
Chr14:58612740..61740337 [GRCh37]
Chr14:57682493..60810090 [NCBI36]
Chr14:14q23.1
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1 copy number loss See cases [RCV000138348] Chr14:57653413..64093528 [GRCh38]
Chr14:58120131..64560246 [GRCh37]
Chr14:57189884..63629999 [NCBI36]
Chr14:14q23.1-23.2
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_001079520.2(DACT1):c.1899G>C (p.Lys633Asn) single nucleotide variant Rieger syndrome [RCV000207386] Chr14:58646633 [GRCh38]
Chr14:59113351 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1145G>A (p.Trp382Ter) single nucleotide variant Townes-Brocks syndrome 2 [RCV000487483] Chr14:58645879 [GRCh38]
Chr14:59112597 [GRCh37]
Chr14:14q23.1
pathogenic
NM_001079520.2(DACT1):c.866_867TG[1] (p.Trp290fs) microsatellite DACT1-related neural tube defects [RCV000656341] Chr14:58645600..58645601 [GRCh38]
Chr14:59112318..59112319 [GRCh37]
Chr14:14q23.1
likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.1(chr14:59072873-59134382)x3 copy number gain not provided [RCV000738505] Chr14:59072873..59134382 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.930G>C (p.Gln310His) single nucleotide variant not provided [RCV000963679] Chr14:58645664 [GRCh38]
Chr14:59112382 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.478+9T>G single nucleotide variant not provided [RCV000883139] Chr14:58640877 [GRCh38]
Chr14:59107595 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.2026T>A (p.Tyr676Asn) single nucleotide variant not provided [RCV000899290] Chr14:58646760 [GRCh38]
Chr14:59113478 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.769G>A (p.Glu257Lys) single nucleotide variant not provided [RCV000898548] Chr14:58645503 [GRCh38]
Chr14:59112221 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.1193T>C (p.Leu398Pro) single nucleotide variant not provided [RCV000972879] Chr14:58645927 [GRCh38]
Chr14:59112645 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.1770C>A (p.Ala590=) single nucleotide variant not provided [RCV000914652] Chr14:58646504 [GRCh38]
Chr14:59113222 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.846C>A (p.Ser282=) single nucleotide variant not provided [RCV000904195] Chr14:58645580 [GRCh38]
Chr14:59112298 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.156G>A (p.Leu52=) single nucleotide variant not provided [RCV000884578] Chr14:58638358 [GRCh38]
Chr14:59105076 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1224C>G (p.Ser408=) single nucleotide variant not provided [RCV000981190] Chr14:58645958 [GRCh38]
Chr14:59112676 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1662C>G (p.Leu554=) single nucleotide variant not provided [RCV000927225] Chr14:58646396 [GRCh38]
Chr14:59113114 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.2121C>T (p.Asp707=) single nucleotide variant not provided [RCV000881393] Chr14:58646855 [GRCh38]
Chr14:59113573 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.582C>T (p.Cys194=) single nucleotide variant not provided [RCV000881260] Chr14:58641695 [GRCh38]
Chr14:59108413 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.624C>G (p.Pro208=) single nucleotide variant not provided [RCV000921309] Chr14:58641737 [GRCh38]
Chr14:59108455 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1861C>T (p.His621Tyr) single nucleotide variant not provided [RCV000897399] Chr14:58646595 [GRCh38]
Chr14:59113313 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.306G>A (p.Lys102=) single nucleotide variant not provided [RCV000899200] Chr14:58638508 [GRCh38]
Chr14:59105226 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.237G>C (p.Ala79=) single nucleotide variant not provided [RCV000893812] Chr14:58638439 [GRCh38]
Chr14:59105157 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.1224C>T (p.Ser408=) single nucleotide variant not provided [RCV000922813] Chr14:58645958 [GRCh38]
Chr14:59112676 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.2148C>T (p.Cys716=) single nucleotide variant not provided [RCV000896682] Chr14:58646882 [GRCh38]
Chr14:59113600 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.635-121T>C single nucleotide variant not provided [RCV000978380] Chr14:58645248 [GRCh38]
Chr14:59111966 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1948T>C (p.Tyr650His) single nucleotide variant not provided [RCV000919962] Chr14:58646682 [GRCh38]
Chr14:59113400 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1896T>G (p.Pro632=) single nucleotide variant not provided [RCV000960597] Chr14:58646630 [GRCh38]
Chr14:59113348 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.1820G>A (p.Gly607Asp) single nucleotide variant not provided [RCV001200592] Chr14:58646554 [GRCh38]
Chr14:59113272 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1924T>C (p.Trp642Arg) single nucleotide variant not provided [RCV000909891] Chr14:58646658 [GRCh38]
Chr14:59113376 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1500C>G (p.Ala500=) single nucleotide variant not provided [RCV000960596] Chr14:58646234 [GRCh38]
Chr14:59112952 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.989C>A (p.Thr330Lys) single nucleotide variant not provided [RCV000914985] Chr14:58645723 [GRCh38]
Chr14:59112441 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1216G>A (p.Ala406Thr) single nucleotide variant not provided [RCV000908138] Chr14:58645950 [GRCh38]
Chr14:59112668 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.2244C>T (p.Ser748=) single nucleotide variant not provided [RCV000895691] Chr14:58646978 [GRCh38]
Chr14:59113696 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1554C>T (p.Val518=) single nucleotide variant not provided [RCV000913773] Chr14:58646288 [GRCh38]
Chr14:59113006 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.147G>A (p.Glu49=) single nucleotide variant not provided [RCV000911742] Chr14:58638349 [GRCh38]
Chr14:59105067 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.260G>T (p.Gly87Val) single nucleotide variant not provided [RCV000889726] Chr14:58638462 [GRCh38]
Chr14:59105180 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.1497T>C (p.Pro499=) single nucleotide variant not provided [RCV000911805] Chr14:58646231 [GRCh38]
Chr14:59112949 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.251C>T (p.Pro84Leu) single nucleotide variant not provided [RCV000890256] Chr14:58638453 [GRCh38]
Chr14:59105171 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1404C>G (p.Pro468=) single nucleotide variant not provided [RCV000912244] Chr14:58646138 [GRCh38]
Chr14:59112856 [GRCh37]
Chr14:14q23.1
benign
GRCh37/hg19 14q22.3-23.1(chr14:56605398-59404256)x1 copy number loss not provided [RCV001006637] Chr14:56605398..59404256 [GRCh37]
Chr14:14q22.3-23.1
pathogenic
GRCh37/hg19 14q23.1(chr14:59083003-59299372)x1 copy number loss not provided [RCV001006640] Chr14:59083003..59299372 [GRCh37]
Chr14:14q23.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17748 AgrOrtholog
COSMIC DACT1 COSMIC
Ensembl Genes ENSG00000165617 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000337439 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378582 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000404297 UniProtKB/TrEMBL
  ENSP00000442850 UniProtKB/TrEMBL
  ENSP00000451598 UniProtKB/TrEMBL
Ensembl Transcript ENST00000335867 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395153 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000421793 UniProtKB/TrEMBL
  ENST00000541264 UniProtKB/TrEMBL
  ENST00000556859 UniProtKB/TrEMBL
GTEx ENSG00000165617 GTEx
HGNC ID HGNC:17748 ENTREZGENE
Human Proteome Map DACT1 Human Proteome Map
InterPro Dact1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dapper UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51339 UniProtKB/Swiss-Prot
NCBI Gene 51339 ENTREZGENE
OMIM 607861 OMIM
  617466 OMIM
PANTHER PTHR15919 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15919:SF12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Dapper UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134957283 PharmGKB
UniGene Hs.48950 ENTREZGENE
  Hs.714204 ENTREZGENE
UniProt B7Z673_HUMAN UniProtKB/TrEMBL
  C9JGV7_HUMAN UniProtKB/TrEMBL
  DACT1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8MYJ2 UniProtKB/Swiss-Prot
  Q86TY0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 DACT1  dishevelled binding antagonist of beta catenin 1    dishevelled-binding antagonist of beta-catenin 1  Symbol and/or name change 5135510 APPROVED
2013-05-21 DACT1  dishevelled-binding antagonist of beta-catenin 1    dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)  Symbol and/or name change 5135510 APPROVED
2012-01-31 DACT1  dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)  DACT1  dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)  Symbol and/or name change 5135510 APPROVED

 



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