GATAD1
GATA zinc finger domain-containing protein 1
Also known as: FLJ22489, GATD1_HUMAN, ODAG, RG083M05.2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8WUU5
- Gene
- GATAD1
- Ensembl
- ENSG00000157259
- Chromosome
- 7
- Canonical length
- 269 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
269 residues, UniProt reviewed canonical sequence.
>Q8WUU5|GATAD1
1 MPLGLKPTCS VCKTTSSSMW KKGAQGEILC HHCTGRGGAG SGGAGSGAAG GTGGSGGGGF
61 GAATFASTSA TPPQSNGGGG GKQSKQEIHR RSARLRNTKY KSAPAAEKKV STKGKGRRHI
121 FKLKNPIKAP ESVSTIITAE SIFYKGVYYQ IGDVVSVIDE QDGKPYYAQI RGFIQDQYCE
181 KSAALTWLIP TLSSPRDQFD PASYIIGPEE DLPRKMEYLE FVCHAPSEYF KSRSSPFPTV
241 PTRPEKGYIW THVGPTPAIT IKESVANHLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GATAD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.54
- Highest tissue expression
- 24 nTPM
Expression across tissuesHPA
Tissue
- ovary: 24 nTPM
- pancreas: 21 nTPM
- thyroid gland: 19 nTPM
- cervix: 18 nTPM
- fallopian tube: 18 nTPM
- prostate: 17 nTPM
Single-cell type
- oligodendrocytes: 123 nCPM
- myonuclei: 103 nCPM
- bergmann glia: 76 nCPM
- pituitary stem cells: 74 nCPM
- thyrotrophs: 66 nCPM
- oligodendrocyte progenitor cells: 66 nCPM
Immune cell
- basophil: 2.8 nTPM
- naive B-cell: 1.4 nTPM
- plasmacytoid DC: 1.2 nTPM
- classical monocyte: 1.1 nTPM
- eosinophil: 1.1 nTPM
- neutrophil: 1 nTPM
Brain region
- white matter: 29 nTPM
- basal ganglia: 23 nTPM
- pons: 23 nTPM
- cerebral cortex: 22 nTPM
- medulla oblongata: 22 nTPM
- thalamus: 22 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GATAD1.
Disease | AllUniProt
Conditions GATAD1 is implicated in, by any mechanism.
- Cardiomyopathy, dilated, 2B (CMD2B) MIM:614672
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 310 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Dilated cardiomyopathy 2B
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.65
- gnomAD pLI
- 0.43
- gnomAD missense Z
- 1.41
- DepMap mean gene effect
- -0.25
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Zinc finger, GATA-type
- Zinc finger, NHR/GATA-type
- GATA zinc finger domain-containing protein 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GATAD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GATAD1 as an antibody target. Whether an autoantibody or antibody against GATAD1 could matter depends on whether native GATAD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GATAD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GATAD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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