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

Gene ID: 57798, updated on 1-Jun-2020

Summary

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
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

Genomic context

See GATAD1 in Genome Data Viewer
Location:
7q21.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (92447448..92494631)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92076762..92089381)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transmembrane BAX inhibitor motif containing 7, pseudogene Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 1 Neighboring gene ERVW-1 upstream regulatory region Neighboring gene endogenous retrovirus group W member 1, envelope Neighboring gene peroxisomal biogenesis factor 1 Neighboring gene RNA binding motif protein 48 Neighboring gene family with sequence similarity 133 member B

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cardiomyopathy, dilated, 2b
MedGen: C3553409 OMIM: 614672 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22489, FLJ40695, AC007566.10

Gene Ontology Provided by GOA

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

General protein information

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

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_032807.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_021167.5NP_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
    Q8WUU5
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    92447448..92494631
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446850.1XP_024302618.1  GATA zinc finger domain-containing protein 1 isoform X1

RNA

  1. XR_001744843.2 RNA Sequence

  2. XR_927494.3 RNA Sequence

  3. XR_927503.3 RNA Sequence

  4. XR_002956474.1 RNA Sequence

  5. XR_002956473.1 RNA Sequence

  6. XR_002956472.1 RNA Sequence

  7. XR_001744842.2 RNA Sequence

  8. XR_927500.3 RNA Sequence

  9. XR_002956475.1 RNA Sequence

  10. XR_002956476.1 RNA Sequence

    Related
    ENST00000645746.1
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