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    GATAD1 GATA zinc finger domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 57798, updated on 9-Jun-2013
    Official Symbol
    GATAD1provided by HGNC
    Official Full Name
    GATA zinc finger domain containing 1provided by HGNC
    Primary source
    HGNC:29941
    Locus tag
    tcag7.279
    See related
    HPRD:17656; MIM:614518
    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
    ODAG; CMD2B; RG083M05.2
    Summary
    The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
    Location :
    7q21-q22
    Sequence :
    Chromosome: 7; NC_000007.13 (92076762..92089381)
    See GATAD1 in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and IBR domain containing 1 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 1 Neighboring gene endogenous retrovirus group W, member 1 Neighboring gene peroxisomal biogenesis factor 1

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Development and application of a DNA microarray-based yeast two-hybrid system. Suter B, et al. Nucleic Acids Res, 2013 Feb 1. PMID 23275563.
    2. Functional dissection of lysine deacetylases reveals that HDAC1 and p300 regulate AMPK. Lin YY, et al. Nature, 2012 Feb 8. PMID 22318606.
    3. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832.
    4. Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. Theis JL, et al. Circ Cardiovasc Genet, 2011 Dec. PMID 21965549.
    5. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. Zhao J, et al. BMC Med Genet, 2010 Jun 14. PMID 20546612.

    See all (15) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. GATAD1 mutation is associated with autosomal recessive dilated cardiomyopathy.
      Title: Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:121770 BioGRID:112217 ATXN1    BioGRID  PubMed Two-hybrid 
    BioGRID:121770 BioGRID:108288 EPHA2    BioGRID  PubMed Two-hybrid 
    BioGRID:121770 BioGRID:116983 SIRT1    BioGRID  PubMed Negative Genetic 
    BioGRID:121770 BioGRID:117505 SS18L1    BioGRID  PubMed Two-hybrid 

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ22489, FLJ40695

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    nucleus IDA
    Inferred from Direct Assay
    more info
    		  
    Preferred Names
    GATA zinc finger domain-containing protein 1
    Names
    GATA zinc finger domain-containing protein 1
    ocular development-associated gene protein

    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_032807.1 RefSeqGene

      Range
      5001..17620
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021167.4 → NP_066990.3  GATA zinc finger domain-containing protein 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AI352515, AI917195, BC019350, BQ682550, BX098689, CA848794, CN264754, CX759409, DA570882, DB257362, M78831
      Consensus CDS
      CCDS5625.1
      UniProtKB/Swiss-Prot
      Q8WUU5

    RNA

    1. NR_052016.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is alternatively spliced at the 3' end compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI352515, AI917195, BC019350, BQ682550, BX098689, CA848794, CN264754, CX759409, DA570882, DB257362, M78831

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p10 Primary Assembly

      Range
      92076762..92089381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      86685108..86697727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      91405972..91418591
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018918.1 Alternate CHM1_1.0

      Range
      95383339..95395959
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AACC02000014.1 (2198183..2210802) None
    genomic ABBA01045803.1 (3613..16232) None
    genomic AC000064.1 AAB46345.1
    genomic AC007566.2 (63317..74579) None
    genomic AMYH01017691.1 (108520..121140) None
    genomic CH236949.1 EAL24150.1
    genomic CH471091.2 EAW76848.1
      EAW76849.1
      EAW76850.1
      EAW76851.1
    mRNA AB073650.1 None
    mRNA AI352515.1 None
    mRNA AI917195.1 None
    mRNA AK026142.1 BAB15374.1
    mRNA AK098014.1 None
    mRNA AK315788.1 BAG38134.1
    mRNA AL120665.1 None
    mRNA BC019350.1 AAH19350.1
    mRNA BC031091.1 AAH31091.1
    mRNA BQ682550.1 None
    mRNA BX098689.1 None
    mRNA BX106375.1 None
    mRNA CA848794.1 None
    mRNA CK003484.1 None
    mRNA CN264754.1 None
    mRNA CN406304.1 None
    mRNA CX759409.1 None
    mRNA DA570882.1 None
    mRNA DB257362.1 None
    mRNA M78831.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUU5.1 GenPept UniProtKB/Swiss-Prot:Q8WUU5

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
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      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

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