Entity Details

Primary name GATD1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8WUU5
EntryNameGATD1_HUMAN
FullNameGATA zinc finger domain-containing protein 1
TaxID9606
Evidenceevidence at protein level
Length269
SequenceStatuscomplete
DateCreated2007-05-29
DateModified2021-06-02

Ontological Relatives

GenesGATAD1

GO terms

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GOName
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006325 chromatin organization
GO:0006338 chromatin remodeling
GO:0006355 regulation of transcription, DNA-templated
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000679 Zinc finger, GATA-typeDomainDomain
IPR013088 Zinc finger, NHR/GATA-typeFamilyHomologous superfamily
IPR039050 GATA zinc finger domain-containing protein 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
614672 OMIMCardiomyopathy, dilated 2B (CMD2B)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.