Entity Details

Primary name GZF1_HUMAN
Entity type UniProt
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Details

AccessionQ9H116
EntryNameGZF1_HUMAN
FullNameGDNF-inducible zinc finger protein 1
TaxID9606
Evidenceevidence at protein level
Length711
SequenceStatuscomplete
DateCreated2002-09-19
DateModified2021-06-02

Ontological Relatives

GenesGZF1

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0006355 regulation of transcription, DNA-templated
GO:0043565 sequence-specific DNA binding
GO:0045892 negative regulation of transcription, DNA-templated
GO:0046872 metal ion binding

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR000210 BTB/POZ domainDomainDomain
IPR011333 SKP1/BTB/POZ domain superfamilyFamilyHomologous superfamily
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617662 OMIMJoint laxity, short stature, and myopia (JLSM)An autosomal recessive disease characterized by generalized joint laxity, joint dislocation, pectus carinatum, short stature, and severe myopia with retinal detachment. The disease is caused by variants affecting the gene represented in this entry.