Entity Details

Primary name RAI1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ7Z5J4
EntryNameRAI1_HUMAN
FullNameRetinoic acid-induced protein 1
TaxID9606
Evidenceevidence at protein level
Length1906
SequenceStatuscomplete
DateCreated2004-07-19
DateModified2021-06-02

Ontological Relatives

GenesRAI1

GO terms

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GOName
GO:0001501 skeletal system development
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0032922 circadian regulation of gene expression
GO:0040015 negative regulation of multicellular organism growth
GO:0045893 positive 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
IPR001965 Zinc finger, PHD-typeDomainDomain
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR034732 Extended PHD (ePHD) domainDomainDomain

Diseases

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Disease IDSourceNameDescription
182290 OMIMSmith-Magenis syndrome (SMS)Characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. The disease is caused by variants affecting the gene represented in this entry.