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

    Gene ID: 57798, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GATAD1provided by HGNC
    Official Full Name
    GATA zinc finger domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:29941
    See related
    Ensembl:ENSG00000157259 MIM:614518; AllianceGenome:HGNC:29941
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.0), endometrium (RPKM 6.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GATAD1 in Genome Data Viewer
    Location:
    7q21.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92447482..92495769)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93688797..93735947)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92076796..92089389)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92052283-92052783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18370 Neighboring gene transmembrane BAX inhibitor motif containing 7, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26260 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:92105944-92106445 Neighboring gene ERVW-1 upstream regulatory region Neighboring gene endogenous retrovirus group W member 1, envelope Neighboring gene peroxisomal biogenesis factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26262 Neighboring gene RNA binding motif protein 48 Neighboring gene family with sequence similarity 133 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26264

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockdown of circ-Gatad1 alleviates LPS induced HK2 cell injury via targeting miR-22-3p/TRPM7 axis in septic acute kidney.
      Title: Knockdown of circ-Gatad1 alleviates LPS induced HK2 cell injury via targeting miR-22-3p/TRPM7 axis in septic acute kidney.
    2. CRISPR screen identifies GATAD1 as a synthetic lethal target with CDK4/6 inhibitors in estrogen receptor-positive breast cancer.
      Title: CRISPR screen identifies GATAD1 as a synthetic lethal target with CDK4/6 inhibitors in estrogen receptor-positive breast cancer.
    3. GATAD1 plays a pivotal oncogenic role in hepatocellular carcinoma by directly inducing PRL3 transcription to activate the Akt signaling pathway. GATAD1 may serve as an independent poor prognostic factor for hepatocellular carcinoma patients
      Title: Increased expression of GATA zinc finger domain containing 1 through gene amplification promotes liver cancer by directly inducing phosphatase of regenerating liver 3.
    4. GATAD1 expression was significantly decreased in the third-trimester placentas associated with preeclampsia than those associated with normal pregnancy.
      Title: Decreased expression and DNA methylation levels of GATAD1 in preeclamptic placentas.
    5. GATAD1 mutation is associated with autosomal recessive dilated cardiomyopathy.
      Title: Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.
    6. 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

    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
    Dilated cardiomyopathy 2B
    MedGen: C3553409 OMIM: 614672 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22489, FLJ40695, AC007566.10

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    GATA zinc finger domain-containing protein 1
    Names
    ocular development-associated gene protein

    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_032807.1 RefSeqGene

      Range
      5035..17628
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_746

    mRNA and Protein(s)

    1. NM_021167.5 → NP_066990.3  GATA zinc finger domain-containing protein 1

      See identical proteins and their annotated locations for NP_066990.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AC007566, AI352515, AI917195, BC019350, BQ682550, BX098689, CA848794, CN264754, CX759409, DA570882, M78831
      Consensus CDS
      CCDS5625.1
      UniProtKB/Swiss-Prot
      B2RE37, D6W5Q5, Q8N5Y5, Q8WUU5, Q99995, Q9H689
      Related
      ENSP00000287957.3, ENST00000287957.5

    RNA

    1. NR_052016.2 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)
      AC007566, AI352515, AI917195, BC019350, BQ682550, BX098689, CA848794, CN264754, CX759409, DA570882, M78831

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      92447482..92495769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420671.1 → XP_047276627.1  GATA zinc finger domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y4H1
      Related
      ENSP00000493785.1, ENST00000645746.1

    2. XM_047420670.1 → XP_047276626.1  GATA zinc finger domain-containing protein 1 isoform X1

    RNA

    1. XR_927494.4 RNA Sequence

    2. XR_927503.4 RNA Sequence

    3. XR_927500.4 RNA Sequence

    4. XR_007060118.1 RNA Sequence

    5. XR_007060119.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      93688797..93735947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358729.1 → XP_054214704.1  GATA zinc finger domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y4H1

    2. XM_054358728.1 → XP_054214703.1  GATA zinc finger domain-containing protein 1 isoform X1

    RNA

    1. XR_008487711.1 RNA Sequence

    2. XR_008487712.1 RNA Sequence

    3. XR_008487710.1 RNA Sequence

    4. XR_008487713.1 RNA Sequence

    5. XR_008487714.1 RNA Sequence

    6. XR_008487715.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    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.

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