DACH1 dachshund family transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DACH1provided by HGNC
Official Full Name: dachshund family transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:2663
See related: Ensembl:ENSG00000276644 MIM:603803; AllianceGenome:HGNC:2663
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DACH
Summary: This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Expression: Broad expression in adrenal (RPKM 3.2), gall bladder (RPKM 2.4) and 21 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 13q21.33

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (71437966..71867204, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (70663152..71092075, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (72012098..72441342, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DACH1 attenuated PA-induced renal tubular injury through TLR4/MyD88/NF-kappaB and TGF-beta/Smad signalling pathway.
Title: DACH1 attenuated PA-induced renal tubular injury through TLR4/MyD88/NF-κB and TGF-β/Smad signalling pathway.
Dachshund Homolog 1: Unveiling Its Potential Role in Megakaryopoiesis and Bacillus anthracis Lethal Toxin-Induced Thrombocytopenia.
Title: Dachshund Homolog 1: Unveiling Its Potential Role in Megakaryopoiesis and Bacillus anthracis Lethal Toxin-Induced Thrombocytopenia.
DACH1 regulates macrophage activation and tumour progression in hypopharyngeal squamous cell carcinoma.
Title: DACH1 regulates macrophage activation and tumour progression in hypopharyngeal squamous cell carcinoma.
Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity.
Title: Dach1 deficiency drives alveolar epithelium apoptosis in pulmonary fibrosis via modulating C-Jun/Bim activity.
DACH1 inhibits the proliferation and migration of papillary thyroid carcinoma.
Title: DACH1 inhibits the proliferation and migration of papillary thyroid carcinoma.
Role of DACH1 on Proliferation, Invasion, and Apoptosis in Human Lung Adenocarcinoma Cells.
Title: Role of DACH1 on Proliferation, Invasion, and Apoptosis in Human Lung Adenocarcinoma Cells.
Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A.
Title: Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A.
Mechanistic insight of DACH1 receptor in the development of carcinoma insurgence through MD simulation studies.
Title: Mechanistic insight of DACH1 receptor in the development of carcinoma insurgence through MD simulation studies.
[Methylation status of DACH1 gene in esophageal cancer and its clinical significance].
Title: [Methylation status of DACH1 gene in esophageal cancer and its clinical significance].
Transcriptome-wide association analysis identifies DACH1 as a kidney disease risk gene that contributes to fibrosis.
Title: Transcriptome-wide association analysis identifies DACH1 as a kidney disease risk gene that contributes to fibrosis.

Submit: New GeneRIF Correction See all GeneRIFs (68)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Anophthalmia-microphthalmia syndrome MedGen: C5680330 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of obsessive-compulsive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. EBI GWAS Catalog EBI GWAS CatalogPubMed
Joint influence of small-effect genetic variants on human longevity. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

STS-T48058 (e-PCR)
- UniSTS:1794

D13S1324 (e-PCR), detects polymorphism
- UniSTS:71444

Dach1 (e-PCR), detects polymorphism
- UniSTS:526934

RH69841 (e-PCR)
- UniSTS:18521

D13S1087E (e-PCR)
- UniSTS:153209

D13S1291 (e-PCR), detects polymorphism
- UniSTS:76681

G62825 (e-PCR)
- UniSTS:139950

RH121637 (e-PCR)
- UniSTS:134319

WI-18453 (e-PCR)
- UniSTS:17373

SHGC-79519 (e-PCR)
- UniSTS:103648

DACH1 (e-PCR)
- UniSTS:505339

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in development of primary female sexual characteristics	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell proliferation involved in contact inhibition	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by competitive promoter binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of nuclear cell cycle DNA replication	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in respiratory gaseous exchange by respiratory system	IEA Inferred from Electronic Annotation more info
involved_in suckling behavior	IEA Inferred from Electronic Annotation more info
involved_in type B pancreatic cell proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: dachshund homolog 1

Names: dac homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011849.4 RefSeqGene

Range

5000..434238

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001366712.1 → NP_001353641.1 dachshund homolog 1 isoform d

Status: REVIEWED

Source sequence(s)

AL138698, AL139186, AL163542, AL354995, AMYH02028239

Consensus CDS

CCDS91814.1

UniProtKB/Swiss-Prot

A0A087WZP2, D0FY35, D0FY36, O75523, O75687, Q5VYY3, Q5VYY4, Q96SG3, Q96SG4, Q9H524, Q9UI36, Q9UMH4

Related

ENSP00000482797.1, ENST00000619232.2

Conserved Domains (2) summary

pfam02437
Location:181 → 281

Ski_Sno; SKI/SNO/DAC family

cl21478
Location:615 → 730

ATP-synt_B; ATP synthase B/B' CF(0)
NM_004392.7 → NP_004383.4 dachshund homolog 1 isoform c

See identical proteins and their annotated locations for NP_004383.4

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks four consecutive coding exons but maintains the same reading frame, compared to variant 1. The resulting isoform (c) is shorter than isoform a.

Source sequence(s)

AL138698, AL139186, AL163542, AL354995, AMYH02028239

UniProtKB/Swiss-Prot

Q9UI36

UniProtKB/TrEMBL

A0A087WY66

Conserved Domains (2) summary

pfam02437
Location:181 → 281

Ski_Sno; SKI/SNO/DAC family

cl21478
Location:361 → 476

ATP-synt_B; ATP synthase B/B' CF(0)
NM_080759.6 → NP_542937.3 dachshund homolog 1 isoform a

See identical proteins and their annotated locations for NP_542937.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the predominant transcript and it encodes the longest isoform (a).

Source sequence(s)

AL138698, AL139186, AL163542, AL354995, AMYH02028239

Consensus CDS

CCDS41899.1

UniProtKB/Swiss-Prot

Q9UI36

Related

ENSP00000482245.1, ENST00000613252.5

Conserved Domains (2) summary

pfam02437
Location:181 → 281

Ski_Sno; SKI/SNO/DAC family

cl21478
Location:563 → 678

ATP-synt_B; ATP synthase B/B' CF(0)
NM_080760.6 → NP_542938.3 dachshund homolog 1 isoform b

See identical proteins and their annotated locations for NP_542938.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks three consecutive coding exons but maintains the same reading frame, compared to variant 1. The resulting isoform (b) is shorter than isoform a.

Source sequence(s)

AL138698, AL139186, AL163542, AL354995, AMYH02028239

UniProtKB/Swiss-Prot

Q9UI36

UniProtKB/TrEMBL

A0A087WZA7

Conserved Domains (2) summary

pfam02437
Location:181 → 281

Ski_Sno; SKI/SNO/DAC family

cl21478
Location:415 → 530

ATP-synt_B; ATP synthase B/B' CF(0)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

71437966..71867204 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017020396.2 → XP_016875885.1 dachshund homolog 1 isoform X3

UniProtKB/TrEMBL

A0A994J5V6

Related

ENSP00000516321.1, ENST00000706275.1

Conserved Domains (1) summary

cl21478
Location:274 → 389

ATP-synt_B; ATP synthase B/B' CF(0)
XM_011534940.3 → XP_011533242.1 dachshund homolog 1 isoform X1

Conserved Domains (1) summary

pfam02437
Location:181 → 281

Ski_Sno; SKI/SNO/DAC family
XM_011534941.3 → XP_011533243.1 dachshund homolog 1 isoform X2

Conserved Domains (1) summary

pfam02437
Location:181 → 281

Ski_Sno; SKI/SNO/DAC family