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    Gapvd1 GTPase activating protein and VPS9 domains 1 [ Mus musculus (house mouse) ]

    Gene ID: 66691, updated on 31-Jan-2019

    Summary

    Official Symbol
    Gapvd1provided by MGI
    Official Full Name
    GTPase activating protein and VPS9 domains 1provided by MGI
    Primary source
    MGI:MGI:1913941
    See related
    Ensembl:ENSMUSG00000026867
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    RAP6; RME-6; Gapex-5; AW108497; mKIAA1521; 2010005B09Rik; 4432404J10Rik
    Expression
    Ubiquitous expression in CNS E14 (RPKM 8.3), liver E14 (RPKM 7.9) and 28 other tissues See more
    Orthologs

    Genomic context

    See Gapvd1 in Genome Data Viewer
    Location:
    2; 2 B
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 2 NC_000068.7 (34676179..34755265, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (34532487..34610752, complement)

    Chromosome 2 - NC_000068.7Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase associated protein 1 Neighboring gene predicted gene, 34178 Neighboring gene ribosomal protein S3A pseudogene Neighboring gene predicted gene, 34372 Neighboring gene DnaJ (Hsp40) homolog, subfamily B, member 6 pseudogene Neighboring gene Rab9 effector protein with kelch motifs Neighboring gene heat shock protein 5 Neighboring gene F-box and WD-40 domain protein 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1521

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    GTPase activating protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    GTPase activating protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    guanyl-nucleotide exchange factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein transport ISO
    Inferred from Sequence Orthology
    more info
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    GTPase-activating protein and VPS9 domain-containing protein 1
    Names
    rab5-activating protein 6

    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_001356441.1NP_001343370.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL845262, AL929106
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13541455
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    2. NM_025709.3NP_079985.2  GTPase-activating protein and VPS9 domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_079985.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL845262, BC060123
      Consensus CDS
      CCDS15949.1
      UniProtKB/Swiss-Prot
      Q6PAR5
      Related
      ENSMUSP00000099864.1, ENSMUST00000102800.7
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13331434
      VPS9; Vacuolar sorting protein 9 (VPS9) domain

    RNA

    1. NR_151469.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon, lacks another alternate exon, and uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL845262, AL929106

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000068.7 Reference GRCm38.p4 C57BL/6J

      Range
      34676179..34755265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011239147.1XP_011237449.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q6PAR5
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13601461
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    2. XM_011239145.1XP_011237447.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011237447.1

      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13811482
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    3. XM_011239148.2XP_011237450.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X3

      UniProtKB/Swiss-Prot
      Q6PAR5
      Related
      ENSMUSP00000108723.3, ENSMUST00000113099.9
      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13541455
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    4. XM_017319195.1XP_017174684.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13811482
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    5. XM_017319197.1XP_017174686.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X6

      Related
      ENSMUSP00000108735.1, ENSMUST00000113111.7
    6. XM_017319199.1XP_017174688.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X8

      Related
      ENSMUSP00000108725.1, ENSMUST00000113101.7
    7. XM_017319196.1XP_017174685.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X1

      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13811482
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    8. XM_011239149.2XP_011237451.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X4

      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13541455
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    9. XM_011239150.2XP_011237452.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X5

      Conserved Domains (2) summary
      cd05129
      Location:84449
      RasGAP_RAP6; Ras-GTPase Activating Domain of Rab5-activating protein 6
      pfam02204
      Location:13271428
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
    10. XM_017319198.1XP_017174687.1  GTPase-activating protein and VPS9 domain-containing protein 1 isoform X7

    RNA

    1. XR_866020.2 RNA Sequence

    2. XR_001783163.1 RNA Sequence

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