Entity Details

Primary name RNPC3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96LT9
EntryNameRNPC3_HUMAN
FullNameRNA-binding region-containing protein 3
TaxID9606
Evidenceevidence at protein level
Length517
SequenceStatuscomplete
DateCreated2007-11-13
DateModified2021-06-02

Ontological Relatives

GenesRNPC3

GO terms

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GOName
GO:0000398 mRNA splicing, via spliceosome
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005689 U12-type spliceosomal complex
GO:0008380 RNA splicing
GO:0030626 U12 snRNA binding
GO:0097157 pre-mRNA intronic binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000504 RNA recognition motif domainDomainDomain
IPR012677 Nucleotide-binding alpha-beta plait domain superfamilyFamilyHomologous superfamily
IPR034147 RBM40, RNA recognition motif 1DomainDomain
IPR035979 RNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618160 OMIMGrowth hormone deficiency, isolated, 5 (IGHD5)An autosomal recessive deficiency of growth hormone characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions