InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: RBM8A

Summary

InnateDB Gene

IDBG-777027.1

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RBM8A

Gene Name

RNA binding motif protein 8A

Synonyms

BOV-1A; BOV-1B; BOV-1C; C1DELq21.1; DEL1q21.1; MDS014; RBM8; RBM8B; TAR; Y14; ZNRP; ZRNP1

Species

Homo sapiens

Ensembl Gene

ENSG00000265241

Encoded Proteins

IDBP-812476

RNA binding motif protein 8A

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:145921556-145927495

Strand

Reverse strand

Band

q21.1

Transcripts

ENST00000583313

ENSP00000463058

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 94 experimentally validated interaction(s) in this database.

Experimentally validated
Total	94 [view]
Protein-Protein	94 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003676	nucleic acid binding
GO:0003723	RNA binding
GO:0003729	mRNA binding
GO:0005515	protein binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0000381	regulation of alternative mRNA splicing, via spliceosome
GO:0000398	mRNA splicing, via spliceosome
GO:0006366	transcription from RNA polymerase II promoter
GO:0006369	termination of RNA polymerase II transcription
GO:0006406	mRNA export from nucleus
GO:0006417	regulation of translation
GO:0008380	RNA splicing
GO:0010467	gene expression
GO:0016070	RNA metabolic process
GO:0016071	mRNA metabolic process
GO:0031124	mRNA 3'-end processing

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0016607	nuclear speck
GO:0035145	exon-exon junction complex
GO:0071013	catalytic step 2 spliceosome

Orthologs

No orthologs found for this gene

Cross-References

SwissProt

TrEMBL

A0A023T787

UniProt Splice Variant

Entrez Gene

9939

UniGene

RefSeq

NM_005105

HUGO

HGNC:9905

OMIM

605313

CCDS

CCDS72872

HPRD

IMGT

EMBL

AF127761 AF161463 AF182415 AF198620 AF231511 AF231512 AF299118 AF403012 AK075009 AL160282 BC017088 CH471244 CR541805 CR541823 KF051020

GenPept

AAD21089 AAF29078 AAF37551 AAG14951 AAG16781 AAG16782 AAG27091 AAH17088 AAL26999 AHX83806 BAG52051 CAG46604 CAG46622 EAW71419

RNA Seq Atlas

9939