Format

Send to:

Choose Destination

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

Gene ID: 1602, updated on 3-Mar-2019

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
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

Genomic context

See DACH1 in Genome Data Viewer
Location:
13q21.33
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (71437966..71868068, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (72012098..72441330, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs129 Neighboring gene Rab9 effector protein with kelch motifs pseudogene 1 Neighboring gene VISTA enhancer hs137 Neighboring gene H3 histone, family 3B pseudogene 1 Neighboring gene ribosomal protein L21 pseudogene 109 Neighboring gene VISTA enhancer hs619 Neighboring gene VISTA enhancer hs188 Neighboring gene VISTA enhancer hs138 Neighboring gene ribosomal protein L35a pseudogene 31 Neighboring gene ribosomal protein S10 pseudogene 21 Neighboring gene VISTA enhancer hs131

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10138

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
dachshund homolog 1
Names
dac homolog

NCBI Reference Sequences (RefSeq)

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_011849.3 RefSeqGene

    Range
    5001..434227
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL138698, AL139186, AL163542, AL354995, AMYH02028239
    Conserved Domains (2) summary
    pfam02437
    Location:181281
    Ski_Sno; SKI/SNO/DAC family
    cl21478
    Location:615730
    ATP-synt_B; ATP synthase B/B' CF(0)
  2. NM_004392.6NP_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)
    AF356492, AL354995
    UniProtKB/Swiss-Prot
    Q9UI36
    UniProtKB/TrEMBL
    A0A087WY66
    Related
    ENSP00000481551.1, ENST00000620444.4
    Conserved Domains (2) summary
    pfam02437
    Location:181281
    Ski_Sno; SKI/SNO/DAC family
    cl21478
    Location:361476
    ATP-synt_B; ATP synthase B/B' CF(0)
  3. NM_080759.6NP_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, ENST00000613252.4
    Conserved Domains (2) summary
    pfam02437
    Location:181281
    Ski_Sno; SKI/SNO/DAC family
    cl21478
    Location:563678
    ATP-synt_B; ATP synthase B/B' CF(0)
  4. NM_080760.5NP_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)
    AF356492, AL354995
    UniProtKB/Swiss-Prot
    Q9UI36
    UniProtKB/TrEMBL
    A0A087WZA7
    Related
    ENSP00000482493.1, ENST00000611519.4
    Conserved Domains (2) summary
    pfam02437
    Location:181281
    Ski_Sno; SKI/SNO/DAC family
    cl21478
    Location:415530
    ATP-synt_B; ATP synthase B/B' CF(0)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    71437966..71868068 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534939.2XP_011533241.1  dachshund homolog 1 isoform X1

    UniProtKB/TrEMBL
    A0A087WZP2
    Related
    ENSP00000482797.1, ENST00000619232.1
    Conserved Domains (2) summary
    pfam02437
    Location:181281
    Ski_Sno; SKI/SNO/DAC family
    cl21478
    Location:615730
    ATP-synt_B; ATP synthase B/B' CF(0)
  2. XM_011534942.3XP_011533244.1  dachshund homolog 1 isoform X5

    Conserved Domains (1) summary
    cl21478
    Location:226337
    ATP-synt_B; ATP synthase B/B' CF(0)
  3. XM_017020396.1XP_016875885.1  dachshund homolog 1 isoform X3

    Conserved Domains (1) summary
    cl21478
    Location:274389
    ATP-synt_B; ATP synthase B/B' CF(0)
  4. XM_011534940.2XP_011533242.1  dachshund homolog 1 isoform X2

    Conserved Domains (1) summary
    pfam02437
    Location:181281
    Ski_Sno; SKI/SNO/DAC family
  5. XM_011534941.2XP_011533243.1  dachshund homolog 1 isoform X4

    Conserved Domains (1) summary
    pfam02437
    Location:181281
    Ski_Sno; SKI/SNO/DAC family
Support Center