Display Settings:

Format

Send to:

Choose Destination

RBM8A RNA binding motif protein 8A [ Homo sapiens (human) ]

Gene ID: 9939, updated on 30-Jun-2015
Official Symbol
RBM8Aprovided by HGNC
Official Full Name
RNA binding motif protein 8Aprovided by HGNC
Primary source
HGNC:HGNC:9905
See related
Ensembl:ENSG00000265241; HPRD:05609; MIM:605313; Vega:OTTHUMG00000013736
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TAR; Y14; RBM8; ZNRP; RBM8B; ZRNP1; BOV-1A; BOV-1B; BOV-1C; MDS014; DEL1q21.1; C1DELq21.1
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]
Orthologs
See RBM8A in Epigenomics, MapViewer
Location:
1q21.1
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (145921556..145927536, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (145507557..145513536)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene integrin, alpha 10 Neighboring gene peroxisomal biogenesis factor 11 beta Neighboring gene gonadotropin-releasing hormone (type 2) receptor 2, pseudogene Neighboring gene uncharacterized LOC105371260 Neighboring gene limb and CNS expressed 1 like Neighboring gene ankyrin repeat domain 34A Neighboring gene polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human RNA binding motif protein 8A (RBM8A) at amino acid residues 56-57 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding NAS
Non-traceable Author Statement
more info
PubMed 
mRNA binding NAS
Non-traceable Author Statement
more info
PubMed 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA splicing TAS
Traceable Author Statement
more info
 
gene expression TAS
Traceable Author Statement
more info
 
mRNA 3'-end processing TAS
Traceable Author Statement
more info
 
mRNA export from nucleus TAS
Traceable Author Statement
more info
 
mRNA splicing, via spliceosome IC
Inferred by Curator
more info
PubMed 
mRNA splicing, via spliceosome TAS
Traceable Author Statement
more info
 
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
Traceable Author Statement
more info
 
regulation of alternative mRNA splicing, via spliceosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of translation IEA
Inferred from Electronic Annotation
more info
 
termination of RNA polymerase II transcription TAS
Traceable Author Statement
more info
 
transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
exon-exon junction complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
RNA-binding protein 8A
Names
BOV-1
RNA binding motif protein 8B
RNA-binding motif protein 8A
RNA-binding protein Y14
binder of OVCA1-1
ribonucleoprotein RBM8
ribonucleoprotein RBM8A

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032654.1 RefSeqGene

    Range
    5001..10980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005105.4NP_005096.1  RNA-binding protein 8A

    See identical proteins and their annotated locations for NP_005096.1

    Status: REVIEWED

    Source sequence(s)
    AC243547, AF127761, AI424454, DB286556
    Consensus CDS
    CCDS72872.1
    UniProtKB/TrEMBL
    A0A023T787
    UniProtKB/Swiss-Prot
    Q9Y5S9
    Related
    ENSP00000463058, OTTHUMP00000276913, ENST00000583313, OTTHUMT00000038503
    Conserved Domains (2) summary
    smart00360
    Location:75146
    RRM; RNA recognition motif
    cd12324
    Location:67151
    RRM_RBM8; RNA recognition motif in RNA-binding protein RBM8A, RBM8B nd similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    145921556..145927536
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    147289682..147295662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)