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    RUNDC3A RUN domain containing 3A [ Homo sapiens (human) ]

    Gene ID: 10900, updated on 17-Jun-2019

    Summary

    Official Symbol
    RUNDC3Aprovided by HGNC
    Official Full Name
    RUN domain containing 3Aprovided by HGNC
    Primary source
    HGNC:HGNC:16984
    See related
    Ensembl:ENSG00000108309 MIM:605448
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RPIP8; RAP2IP; RPIP-8
    Expression
    Biased expression in brain (RPKM 51.0), adrenal (RPKM 6.3) and 1 other tissue See more
    Orthologs

    Genomic context

    See RUNDC3A in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (44308559..44318670)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42385786..42396039)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 507, pseudogene Neighboring gene RUNDC3A antisense RNA 1 Neighboring gene RNA, U6 small nuclear 453, pseudogene Neighboring gene solute carrier family 25 member 39 Neighboring gene granulin precursor

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase regulator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    positive regulation of cGMP-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of cGMP-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    RUN domain-containing protein 3A
    Names
    RaP2 interacting protein 8
    rap2-interacting protein 8

    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.

    mRNA and Protein(s)

    1. NM_001144825.2NP_001138297.1  RUN domain-containing protein 3A isoform 1

      See identical proteins and their annotated locations for NP_001138297.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB209802
      Consensus CDS
      CCDS45698.1
      UniProtKB/Swiss-Prot
      Q59EK9
      Related
      ENSP00000410862.2, ENST00000426726.8
      Conserved Domains (2) summary
      pfam02759
      Location:60186
      RUN; RUN domain
      pfam11180
      Location:263321
      DUF2968; Protein of unknown function (DUF2968)
    2. NM_001144826.1NP_001138298.1  RUN domain-containing protein 3A isoform 3

      See identical proteins and their annotated locations for NP_001138298.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK313669, BC006194, BX537443, DA299778
      Consensus CDS
      CCDS59294.1
      UniProtKB/Swiss-Prot
      Q59EK9
      Related
      ENSP00000468214.1, ENST00000590941.5
      Conserved Domains (2) summary
      pfam02759
      Location:60181
      RUN; RUN domain
      pfam11180
      Location:258316
      DUF2968; Protein of unknown function (DUF2968)
    3. NM_006695.4NP_006686.1  RUN domain-containing protein 3A isoform 2

      See identical proteins and their annotated locations for NP_006686.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK313669, BC006194, DA299778
      Consensus CDS
      CCDS45699.1
      UniProtKB/Swiss-Prot
      Q59EK9
      Related
      ENSP00000225441.7, ENST00000225441.11
      Conserved Domains (2) summary
      pfam02759
      Location:60186
      RUN; RUN domain
      pfam11180
      Location:263321
      DUF2968; Protein of unknown function (DUF2968)

    RefSeqs of Annotated Genomes: Homo sapiens 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_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      44308559..44318670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024039.1XP_016879528.1  RUN domain-containing protein 3A isoform X7

    2. XM_017024035.1XP_016879524.1  RUN domain-containing protein 3A isoform X3

    3. XM_017024038.2XP_016879527.1  RUN domain-containing protein 3A isoform X5

    4. XM_017024037.1XP_016879526.1  RUN domain-containing protein 3A isoform X2

    5. XM_005256964.3XP_005257021.1  RUN domain-containing protein 3A isoform X4

      See identical proteins and their annotated locations for XP_005257021.1

      Conserved Domains (2) summary
      pfam02759
      Location:60181
      RUN; RUN domain
      pfam11180
      Location:258316
      DUF2968; Protein of unknown function (DUF2968)
    6. XM_017024036.2XP_016879525.1  RUN domain-containing protein 3A isoform X1

    7. XM_017024040.2XP_016879529.1  RUN domain-containing protein 3A isoform X8

    8. XM_024450548.1XP_024306316.1  RUN domain-containing protein 3A isoform X6

      Conserved Domains (2) summary
      pfam02759
      Location:60182
      RUN; RUN domain
      pfam11180
      Location:259317
      DUF2968; Protein of unknown function (DUF2968)

    RNA

    1. XR_001752408.2 RNA Sequence

    2. XR_001752409.2 RNA Sequence

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