1. Gene
  2. DACT1 - dishevelled binding antagonist of beta catenin 1 Gene

DACT1 - dishevelled binding antagonist of beta catenin 1 Gene

Homo sapiens

Also known as DPR1; TBS2; FRODO; HDPR1; DAPPER; THYEX3; DAPPER1

Gene ID: 51339 | Gene type: protein coding

About DACT1

Cytogenetic location: 14q23.1 Genomic coordinates (GRCh38): 14:58,634,061-58,648,321 (from NCBI)

This gene has 6 transcripts (splice variants), 193 orthologues, 2 paralogues and is associated with 5 phenotypes. Broad expression in gall bladder (RPKM 10.6), ovary (RPKM 9.1) and 22 other tissues.

Summary

The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

DACT1 Products(2)

mRNA Protein Name
NM_001079520.2 NP_001072988.1 dapper homolog 1 isoform 2
NM_016651.6 NP_057735.2 dapper homolog 1 isoform 1

DACT1 Protein Structure

Dapper

Dapper: Dapper (46 - 836)

  • 0
  • 200
  • 400
  • 600
  • 836 a.a.
Protein Preferred Names Protein Names

dapper homolog 1

dapper antagonist of catenin 1

Related Diseases

Diseases Alias
Townes-Brocks Syndrome 2

TBS2

Craniorachischisis

Anencephaly With Rachischisis

Townes-Brocks Syndrome

Townes Syndrome

Renal-Ear-Anal-Radial Syndrome

Anus, Imperforate, With Hand, Foot And Ear Anomalies

Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome

Rear Syndrome

Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs

Tbs

Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs

Imperforate Anus With Hand, Foot And Ear Anomalies

Anal-Ear-Renal-Radial Malformation Syndrome

Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Imperforate Anus-Hand And Foot Anomalies Syndrome

Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs

Occipital Encephalocele
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Myelomeningocele

Meningomyelocele

Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness

Multiple Epiphyseal Dysplasia, Beighton Type

EDMMD

Epiphyseal Dysplasia, Multiple, With Myopia And Deafness

Multiple Epiphyseal Dysplasia With Myopia And Deafness

Multiple Epiphyseal Dysplasia-Myopia-Deafness Syndrome

Multiple Epiphyseal Dysplasia-Myopia-Hearing Loss Syndrome

Multiple Epiphyseal Dysplasia With Myopia And Conductive Deafness

Dysplasia, Epiphyseal, Multiple, With Myopia And Deafness

Intestinal Disaccharidase Deficiency

Disaccharidase Deficiency

Anencephaly

Aprosencephaly

Anencephalus

Congenital Absence Of Brain

Absence Of A Large Part Of The Brain And The Skull

Anencephalia

Anencephalic Monster

Brain Absence

Brain Agenesis

Brain Aplasia

Absent Brain

Anencephalic

Congenital Absence Of Cerebrum

Congenital Hemicrania

Incomplete Anencephaly

Orange Allergy

Citrus Sinensis Fruit Allergy

Deafness, Autosomal Recessive 100

DFNB100

Autosomal Recessive Nonsyndromic Deafness 100

Autosomal Recessive Deafness 100

Deafness, Autosomal Recessive, 100

Ectodermal Dysplasia 5, Hair/Nail Type

ECTD5

Ectodermal Dysplasia 5

Ectodermal Dysplasia 6, Hair/Nail Type

ECTD6

Ectodermal Dysplasia 6

Ectodermal Dysplasia 7, Hair/Nail Type

ECTD7

Ectodermal Dysplasia 7

Dysplasia, Ectodermal, Type 7, Hair/Nail

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

17-Ksr Deficiency

Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency

Pseudohermaphroditism, Male, With Gynecomastia

17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency

Testosterone 17-Beta-Dehydrogenase Deficiency

17-Ketosteroid Reductase Deficiency Of Testis

17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

17-Ketoreductase Deficiency

17-Ketosteroidreductase Deficiency

46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

Male Pseudohermaphroditism With Gynecomastia

17 Alpha Ksr Deficiency

17 Alpha Ketosteroid Reductase Deficiency Of Testis

17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Male Pseudoherma-Phroditism With Gynecomastia

Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency

Male Pseudohermaphrodism With Gynecomastia

MPH

17-Hydroxysteroid Dehydrogenase Deficiency

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus DACT1 MGD MGI:1891740
Bos taurus DACT1 VGNC VGNC:27867
Felis catus DACT1 VGNC VGNC:104383
Canis familiaris DACT1 VGNC VGNC:39761
Macaca mulatta DACT1 VGNC VGNC:71650
Rattus norvegicus DACT1 RGD RGD:1564008