Entity Details

Primary name CIC_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96RK0
EntryNameCIC_HUMAN
FullNameProtein capicua homolog
TaxID9606
Evidenceevidence at protein level
Length1608
SequenceStatuscomplete
DateCreated2005-09-27
DateModified2021-06-02

Ontological Relatives

GenesCIC

GO terms

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GOName
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007420 brain development
GO:0007612 learning
GO:0007613 memory
GO:0035176 social behavior
GO:0043231 intracellular membrane-bounded organelle
GO:0045892 negative regulation of transcription, DNA-templated

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR009071 High mobility group box domainDomainDomain
IPR036910 High mobility group box domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617600 OMIMMental retardation, autosomal dominant 45 (MRD45)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD45 patients manifest developmental delay, variable intellectual disability, and behavioral disorders, including autistic features, attention deficit, and hyperactivity. The disease is caused by variants affecting the gene represented in this entry.