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

    Gene ID: 9939, updated on 8-Jul-2021

    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
    NEW
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    Genomic context

    See RBM8A in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (145921556..145927484, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (145507609..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
    enables RNA binding HDA PubMed 
    enables RNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables mRNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of U2-type catalytic step 1 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    part_of exon-exon junction complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of exon-exon junction complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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
      ENSP00000463058.2, ENST00000583313.7
      Conserved Domains (1) summary
      cd12324
      Location:67151
      RRM_RBM8; RNA recognition motif (RRM) found in RNA-binding protein RBM8A, RBM8B nd similar proteins

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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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