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

Gene ID: 10900, updated on 7-Jun-2020

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
109.20200522 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 CRISPRi-validated cis-regulatory element chr17.2878

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 
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 
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 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_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

    Related
    ENST00000590834.5
  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

    Conserved Domains (2) summary
    pfam02759
    Location:60182
    RUN; RUN domain
    pfam11932
    Location:241327
    DUF3450; Protein of unknown function (DUF3450)
  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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