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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
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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 Variation Viewer (GRCh37.p13)

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.

Chemical Information
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