Entity Details

Primary name RBM28_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NW13
EntryNameRBM28_HUMAN
FullNameRNA-binding protein 28
TaxID9606
Evidenceevidence at protein level
Length759
SequenceStatuscomplete
DateCreated2004-11-23
DateModified2021-06-02

Ontological Relatives

GenesRBM28

GO terms

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GOName
GO:0003723 RNA binding
GO:0005681 spliceosomal complex
GO:0005730 nucleolus
GO:0006397 mRNA processing
GO:0008380 RNA splicing

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
IPR035979 RNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
612079 OMIMAlopecia, neurologic defects, and endocrinopathy syndrome (ANES)Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions