RBM8A

Name

RNA binding motif protein 8A

Type

protein-coding

Position

145,921,065–145,928,067 (−)

Aliases

BOV-1A, BOV-1B, BOV-1C, C1DELq21.1, DEL1q21.1, MDS014, RBM8, TAR, Y14, ZNRP

Ensembl

ENSG00000265241

RefSeq RNA

NM_005105.5

RefSeq protein

NP_005096.1

This 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].

via MyGene.info

Wikidata facts

Image

The crystal structure of the human Exon Junction Complex 2J0S RBM8A.png

via Wikidata · CC0