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

    Gene ID: 1602, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See DACH1 in Genome Data Viewer
    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_000013.11Genomic 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 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. Dynamic and Cell-Specific DACH1 Expression in Human Neocortical and Striatal Development. Castiglioni V, et al. Cereb Cortex, 2019 May 1. PMID 29688344, Free PMC Article
    2. DACH1 mutation frequency in endometrial cancer is associated with high tumor mutation burden. Riggs MJ, et al. PLoS One, 2020. PMID 33378353, Free PMC Article
    3. Epigenetic regulation of DACH1, a novel Wnt signaling component in colorectal cancer. Yan W, et al. Epigenetics, 2013 Dec. PMID 24149323, Free PMC Article
    4. Mechanistic insight of DACH1 receptor in the development of carcinoma insurgence through MD simulation studies. Hassan M, et al. J Biomol Struct Dyn, 2022 Feb. PMID 32924784
    5. Correlation between single nucleotide polymorphisms of DACH1 gene microRNA binding site and susceptibility of patients with endometrial cancer. Xu L, et al. Medicine (Baltimore), 2020 Jun 19. PMID 32569224, Free PMC Article

    See all (121) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. DACH1 inhibits the proliferation and migration of papillary thyroid carcinoma.
      Title: DACH1 inhibits the proliferation and migration of papillary thyroid carcinoma.
    6. 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.
    7. 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.
    8. 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.
    9. [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].
    10. 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

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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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    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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