Entity Details

Primary name PLAG1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6DJT9
EntryNamePLAG1_HUMAN
FullNameZinc finger protein PLAG1
TaxID9606
Evidenceevidence at protein level
Length500
SequenceStatuscomplete
DateCreated2007-07-10
DateModified2021-06-02

Ontological Relatives

GenesPLAG1

GO terms

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GOName
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003700 DNA-binding transcription factor activity
GO:0005654 nucleoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0016607 nuclear speck
GO:0022612 gland morphogenesis
GO:0035264 multicellular organism growth
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046872 metal ion binding
GO:0060252 positive regulation of glial cell proliferation
GO:0060736 prostate gland growth

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR013087 Zinc finger C2H2-typeDomainDomain
IPR027765 Zinc finger protein PLAG1/PLAGL2FamilyFamily
IPR036236 Zinc finger C2H2 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618907 OMIMSilver-Russell syndrome 4 (SRS4)A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS4 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.