Entity Details

Primary name FA50A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14320
EntryNameFA50A_HUMAN
FullNameProtein FAM50A
TaxID9606
Evidenceevidence at protein level
Length339
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesFAM50A

GO terms

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GOName
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006325 chromatin organization
GO:0007283 spermatogenesis

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR007005 XAP5 proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
300261 OMIMIntellectual developmental disorder, X-linked, syndromic, Armfield type (MRXSA)An X-linked recessive disorder characterized by global developmental delay with impaired intellectual development, walking difficulties and poor or absent speech. Affected individuals display a distinctive phenotype characterized by postnatal growth retardation, variable head circumference with a prominent forehead and dysmorphic facial features, ocular abnormalities, and seizures. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions