RBM28

The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Description

RNA binding motif protein 28

Tissue specificity

Low tissue specificity

Subcell location

Nucleoli

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

7 (128297685 - 128343908)

Ensembl ID

ENSG00000106344  (ver. 103.38)

Orthologs

Mouse Rbm28: ENSMUSG00000029701

UniProt

Q9NW13

neXtProt

NX_Q9NW13

Human splice variants
Mouse splice variants

Protein structure