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

Gene ID: 10900, updated on 5-Mar-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, Apr 2022]
Expression
Biased expression in brain (RPKM 51.0), adrenal (RPKM 6.3) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
17q21.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44308601..44318670)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45161680..45171748)
105.20220307 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 (20) 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)

Genotypes

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_2023_10

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

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