RNA-binding protein 8A

RNA-binding protein 8A is a protein that in humans is encoded by the RBM8A gene.^[5][6]

RBM8A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1P27, 2HYI, 2J0Q, 2J0S, 2XB2, 3EX7
Identifiers
Aliases	RBM8A, BOV-1A, BOV-1B, BOV-1C, C1DELq21.1, DEL1q21.1, MDS014, RBM8, RBM8B, TAR, Y14, ZNRP, ZRNP1, RNA binding motif protein 8A
External IDs	OMIM: 605313; MGI: 1913129; HomoloGene: 3744; GeneCards: RBM8A; OMA:RBM8A - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.1 Start 145,921,556 bp[1] End 145,927,678 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F2.1 Start 96,537,249 bp[2] End 96,541,107 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone Achilles tendon olfactory zone of nasal mucosa gastrocnemius muscle islet of Langerhans skin of abdomen monocyte right testis left testis Top expressed in embryo embryo interventricular septum ventricular zone blastocyst yolk sac morula dentate gyrus of hippocampal formation granule cell epiblast neural layer of retina More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding nucleic acid binding RNA binding mRNA binding Cellular component cytosol catalytic step 2 spliceosome exon-exon junction complex soma dendrite spliceosomal complex nucleus cytoplasm nucleoplasm nuclear speck U2-type catalytic step 1 spliceosome Biological process mRNA splicing, via spliceosome termination of RNA polymerase II transcription mRNA transport RNA processing mRNA processing regulation of alternative mRNA splicing, via spliceosome mRNA export from nucleus mRNA 3'-end processing regulation of translation RNA export from nucleus nuclear-transcribed mRNA catabolic process, nonsense-mediated decay RNA splicing transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9939 60365 Ensembl ENSG00000265241 ENSMUSG00000038374 UniProt Q9Y5S9 Q9CWZ3 RefSeq (mRNA) NM_005105 NM_001102407 NM_025875 RefSeq (protein) NP_005096 NP_001095877 NP_080151 Location (UCSC) Chr 1: 145.92 – 145.93 Mb Chr 3: 96.54 – 96.54 Mb PubMed search [3] [4]
Wikidata
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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. Two alternative start codons result in two forms of the protein, and this gene also uses multiple polyadenylation sites.^[7]

Interactions

RBM8A has been shown to interact with IPO13,^[8] MAGOH^[9][10] and UPF3A.^[11]

Related gene problems

• TAR syndrome^[12]
• 1q21.1 deletion syndrome
• 1q21.1 duplication syndrome