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MGP004057

Record overview

MGPD IDMGP004057
Gene ID9939
SpeciesHomo sapiens (Human)
Gene NameRNA binding motif protein 8A
Gene Symbol RBM8A
SynonymsTAR; Y14; RBM8; ZNRP; RBM8B; ZRNP1; BOV-1A; BOV-1B; BOV-1C; MDS014; DEL1q21.1; C1DELq21.1;
Alternate namesRNA-binding protein 8A; BOV-1; RNA binding motif protein 8B; RNA-binding motif protein 8A; RNA-binding protein Y14; binder of OVCA1-1; ribonucleoprotein RBM8; ribonucleoprotein RBM8A;
Chromosome1
Map Location1q21.1
SummaryThis gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]
OrthologsView orthologs and multiple alignments for RBM8A

Proteins

RNA-binding protein 8A
Refseq ID:NP_005096
Protein GI:4826972
UniProt ID:Q9Y5S9
mRNA ID:NM_005105
Length:174
RefSeq Status:
MADVLDLHEAGGEDFAMDEDGDESIHKLKEKAKKRKGRGFGSEEGSRARMREDYDSVEQDGDEPGPQRSVEGWILFVTGVHEEATEEDIHDKFAEYGEIK
NIHLNLDRRTGYLKGYTLVEYETYKEAQAAMEGLNGQDLMGQPISVDWCFVRGPPKGKRRGGRRRSRSPDRRRR
 
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