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

Gene ID: 9939, updated on 5-Jul-2020

Summary

Official Symbol
RBM8Aprovided by HGNC
Official Full Name
RNA binding motif protein 8Aprovided by HGNC
Primary source
HGNC:HGNC:9905
See related
Ensembl:ENSG00000265241 MIM:605313
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]
Expression
Ubiquitous expression in brain (RPKM 21.6), esophagus (RPKM 19.1) and 25 other tissues See more
Orthologs

Genomic context

See RBM8A in Genome Data Viewer
Location:
1q21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (145921556..145927484, 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 subunit alpha 10 Neighboring gene peroxisomal biogenesis factor 11 beta Neighboring gene gonadotropin releasing hormone receptor 2 (pseudogene) Neighboring gene LIX1L antisense RNA 1 Neighboring gene limb and CNS expressed 1 like Neighboring gene conserved acetylation island sequence C12 enhancer Neighboring gene ankyrin repeat domain 34A Neighboring gene RNA polymerase III subunit GL

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA binding NAS
Non-traceable Author Statement
more info
PubMed 
mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
U2-type catalytic step 1 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
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
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
exon-exon junction complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
exon-exon junction complex IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
RNA-binding protein 8A
Names
BOV-1
RNA binding motif protein 8B
RNA-binding protein Y14
binder of OVCA1
binder of OVCA1-1
ribonucleoprotein RBM8
ribonucleoprotein RBM8A

NCBI Reference Sequences (RefSeq)

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_032654.2 RefSeqGene

    Range
    5001..10981
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_574

mRNA and Protein(s)

  1. NM_005105.5NP_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/Swiss-Prot
    Q9Y5S9
    UniProtKB/TrEMBL
    A0A023T787
    Related
    ENSP00000463058.1, ENST00000583313.6
    Conserved Domains (1) summary
    cd12324
    Location:67151
    RRM_RBM8; RNA recognition motif in RNA-binding protein RBM8A, RBM8B nd similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    145921556..145927484 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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