Entity Details

Primary name RSRC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96IZ7
EntryNameRSRC1_HUMAN
FullNameSerine/Arginine-related protein 53
TaxID9606
Evidenceevidence at protein level
Length334
SequenceStatuscomplete
DateCreated2005-03-15
DateModified2021-06-02

Ontological Relatives

GenesRSRC1

GO terms

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GOName
GO:0000380 alternative mRNA splicing, via spliceosome
GO:0000398 mRNA splicing, via spliceosome
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0006468 protein phosphorylation
GO:0006913 nucleocytoplasmic transport
GO:0008380 RNA splicing
GO:0016607 nuclear speck
GO:0046677 response to antibiotic

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus
Nucleus speckle

Domains

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DomainNameCategoryType
IPR034604 Serine/Arginine-related protein 53FamilyFamily

Diseases

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Disease IDSourceNameDescription
618402 OMIMIntellectual developmental disorder, autosomal recessive 70 (MRT70)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. Intellectual deficiency is the only primary symptom of non-syndromic mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients. The disease is caused by variants affecting the gene represented in this entry.