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

Gene ID: 1602, updated on 8-Apr-2024

Summary

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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
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Genomic context

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Location:
13q21.33
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (71437966..71867204, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (70663152..71092075, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (72012098..72441342, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7809 Neighboring gene NANOG hESC enhancer GRCh37_chr13:71604884-71605484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:71629802-71630358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5393 Neighboring gene long intergenic non-protein coding RNA 348 Neighboring gene VISTA enhancer hs129 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:71853958-71854155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7810 Neighboring gene Rab9 effector protein with kelch motifs pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:71964457-71964957 Neighboring gene Sharpr-MPRA regulatory region 6884 Neighboring gene VISTA enhancer hs137 Neighboring gene VISTA enhancer hs619 Neighboring gene ribosomal protein L21 pseudogene 109 Neighboring gene VISTA enhancer hs188 Neighboring gene H3 histone pseudogene 36 Neighboring gene NANOG hESC enhancer GRCh37_chr13:72405848-72406453 Neighboring gene VISTA enhancer hs138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7811 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:72450848-72451348 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:72451349-72451849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7812 Neighboring gene ribosomal protein L35a pseudogene 31 Neighboring gene ribosomal protein S10 pseudogene 21 Neighboring gene NANOG hESC enhancer GRCh37_chr13:72578868-72579392 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:72636687-72637228 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:72694600-72695463 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:72696928-72697478 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:72741998-72743197 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:72744178-72745377 Neighboring gene VISTA enhancer hs131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:72795269-72795769 Neighboring gene VISTA enhancer hs141 Neighboring gene small nucleolar RNA SNORD37

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. DACH1 inhibits the proliferation and migration of papillary thyroid carcinoma. Liang S, et al. Cell Biol Int, 2023 Mar. PMID 36511182
  2. Diagnostic and Prognostic Value of DACH1 Methylation in the Sensitivity of Esophageal Cancer to Radiotherapy. Huang J, et al. Contrast Media Mol Imaging, 2022. PMID 36247858, Free PMC Article
  3. The Function of circRNA-0047604 in Regulating the Tumor Suppressor Gene DACH1 in Breast Cancer. Zhao B, et al. Biomed Res Int, 2022. PMID 35097124, Free PMC Article
  4. [Methylation status of DACH1 gene in esophageal cancer and its clinical significance]. Liu Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2021 Oct 10. PMID 34625942
  5. Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A. Umair M, et al. Genomics, 2021 Jul. PMID 34022343

See all (116) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. DACH1 inhibits the proliferation and migration of papillary thyroid carcinoma.
    Title: DACH1 inhibits the proliferation and migration of papillary thyroid carcinoma.
  5. 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.
  6. 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.
  7. 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.
  8. [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].
  9. 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.
  10. Upregulation of microRNA1403p mediates dachshund family transcription factor 1 expression in immunoglobulin A nephropathy through cell cycledependent mechanisms.
    Title: Upregulation of microRNA‑140‑3p mediates dachshund family transcription factor 1 expression in immunoglobulin A nephropathy through cell cycle‑dependent mechanisms.
Submit: New GeneRIF Correction See all GeneRIFs (67)

Phenotypes

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10138

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

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Preferred Names
dachshund homolog 1
Names
dac homolog

NCBI Reference Sequences (RefSeq)

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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

  1. NG_011849.4 RefSeqGene

    Range
    5000..434238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

  2. 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)

  3. 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)

  4. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    71437966..71867204 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

  2. 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

  3. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    70663152..71092075 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374134.1 → XP_054230109.1  dachshund homolog 1 isoform X4

  2. XM_054374135.1 → XP_054230110.1  dachshund homolog 1 isoform X5

  3. XM_054374133.1 → XP_054230108.1  dachshund homolog 1 isoform X1

  4. XM_054374136.1 → XP_054230111.1  dachshund homolog 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UI36.4 GenPept UniProtKB/Swiss-Prot:Q9UI36

Gene LinkOut

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