Homo sapiens Gene: RBM28
Summary
InnateDB Gene IDBG-39628.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RBM28
Gene Name RNA binding motif protein 28
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000106344
Encoded Proteins
RNA binding motif protein 28
RNA binding motif protein 28
RNA binding motif protein 28
RNA binding motif protein 28
RNA binding motif protein 28
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:128297685-128343908
Strand Reverse strand
Band q32.1
Transcripts
ENST00000223073 ENSP00000223073
ENST00000415472 ENSP00000390517
ENST00000481788
ENST00000495327
ENST00000487602 ENSP00000419840
ENST00000478061 ENSP00000418071
ENST00000488249
ENST00000459726 ENSP00000420503
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 26 [view]
Protein-Protein 25 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0006397 mRNA processing
GO:0008380 RNA splicing
Cellular Component
GO:0005681 spliceosomal complex
GO:0005730 nucleolus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.274263
RefSeq NM_001166135 NM_018077
HUGO
OMIM
CCDS CCDS55159 CCDS5801
HPRD 07668
IMGT
EMBL
GenPept
RNA Seq Atlas