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

    Gene ID: 10900, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:16984
    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
    Summary
    Predicted to enable GTPase regulator activity. Predicted to be involved in positive regulation of cGMP-mediated signaling. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 51.0), adrenal (RPKM 6.3) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See RUNDC3A in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44308601..44318670)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45161680..45171748)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42385969..42396038)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RUNDC3A antisense RNA 1 Neighboring gene uncharacterized LOC124904153 Neighboring gene RNA, U6 small nuclear 453, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8587 Neighboring gene solute carrier family 25 member 39 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12255 Neighboring gene uncharacterized LOC124904009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42403114-42403965 Neighboring gene CRISPRi-validated cis-regulatory element chr17.2878

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Identification of a specific effector of the small GTP-binding protein Rap2. Janoueix-Lerosey I, et al. Eur J Biochem, 1998 Mar 1. PMID 9523700
    2. Protein interactome reveals converging molecular pathways among autism disorders. Sakai Y, et al. Sci Transl Med, 2011 Jun 8. PMID 21653829, Free PMC Article
    3. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    4. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474
    5. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Lim J, et al. Cell, 2006 May 19. PMID 16713569

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase regulator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of cGMP-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in small GTPase-mediated signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001144825.2 → NP_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
      B2R974, O15483, O60651, Q59EK9, Q7Z3S2, Q9UF50
      Related
      ENSP00000410862.2, ENST00000426726.8
      Conserved Domains (2) summary
      pfam02759
      Location:60 → 186
      RUN; RUN domain
      pfam06785
      Location:238 → 318
      UPF0242; Uncharacterized protein family (UPF0242)

    2. NM_001144826.2 → NP_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:60 → 181
      RUN; RUN domain
      pfam06785
      Location:233 → 313
      UPF0242; Uncharacterized protein family (UPF0242)

    3. NM_006695.5 → NP_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:60 → 186
      RUN; RUN domain
      pfam06785
      Location:238 → 318
      UPF0242; Uncharacterized protein family (UPF0242)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      44308601..44318670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024035.2 → XP_016879524.1  RUN domain-containing protein 3A isoform X1

      Related
      ENST00000590834.5

    2. XM_017024036.3 → XP_016879525.1  RUN domain-containing protein 3A isoform X2

    3. XM_024450548.2 → XP_024306316.1  RUN domain-containing protein 3A isoform X7

      Conserved Domains (2) summary
      pfam02759
      Location:60 → 182
      RUN; RUN domain
      pfam06785
      Location:251 → 314
      UPF0242; Uncharacterized protein family (UPF0242)

    4. XM_017024037.2 → XP_016879526.1  RUN domain-containing protein 3A isoform X3

    5. XM_005256964.4 → XP_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:60 → 181
      RUN; RUN domain
      pfam06785
      Location:233 → 313
      UPF0242; Uncharacterized protein family (UPF0242)

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

    7. XM_017024039.2 → XP_016879528.1  RUN domain-containing protein 3A isoform X6

    8. XM_017024040.3 → XP_016879529.1  RUN domain-containing protein 3A isoform X8

      Conserved Domains (2) summary
      pfam02759
      Location:60 → 182
      RUN; RUN domain
      pfam11932
      Location:241 → 327
      DUF3450; Protein of unknown function (DUF3450)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      45161680..45171748
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314751.1 → XP_054170726.1  RUN domain-containing protein 3A isoform X1

    2. XM_054314752.1 → XP_054170727.1  RUN domain-containing protein 3A isoform X2

    3. XM_054314757.1 → XP_054170732.1  RUN domain-containing protein 3A isoform X7

    4. XM_054314753.1 → XP_054170728.1  RUN domain-containing protein 3A isoform X3

    5. XM_054314754.1 → XP_054170729.1  RUN domain-containing protein 3A isoform X4

    6. XM_054314755.1 → XP_054170730.1  RUN domain-containing protein 3A isoform X5

    7. XM_054314756.1 → XP_054170731.1  RUN domain-containing protein 3A isoform X6

    8. XM_054314758.1 → XP_054170733.1  RUN domain-containing protein 3A isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q59EK9.2 GenPept UniProtKB/Swiss-Prot:Q59EK9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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