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    Rabgap1 RAB GTPase activating protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 227800, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Rabgap1provided by MGI
    Official Full Name
    RAB GTPase activating protein 1provided by MGI
    Primary source
    MGI:MGI:2385139
    See related
    Ensembl:ENSMUSG00000035437 AllianceGenome:MGI:2385139
    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
    Gapcena; mKIAA4104
    Summary
    Predicted to enable GTPase activator activity and small GTPase binding activity. Predicted to be located in cytosol. Orthologous to human RABGAP1 (RAB GTPase activating protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E14 (RPKM 5.5), CNS E18 (RPKM 5.5) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rabgap1 in Genome Data Viewer
    Location:
    2 B; 2 24.19 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (37333274..37463653)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (37443263..37573420)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E4442 Neighboring gene STARR-positive B cell enhancer ABC_E1004 Neighboring gene zinc finger and BTB domain containing 6 Neighboring gene zinc finger and BTB domain containing 26 Neighboring gene nucleoporin 37 pseudogene Neighboring gene G protein-coupled receptor 21 Neighboring gene spermatid perinuclear RNA binding protein Neighboring gene zinc finger protein 609 pseudogene Neighboring gene microRNA 5128

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome. Oh RY, et al. Genet Med, 2022 Nov. PMID 36083289
    2. Rabgap1 promotes recycling of active β1 integrins to support effective cell migration. Samarelli AV, et al. J Cell Sci, 2020 Sep 23. PMID 32843574, Free PMC Article
    3. MicroRNA-34/449 controls mitotic spindle orientation during mammalian cortex development. Fededa JP, et al. EMBO J, 2016 Nov 15. PMID 27707753, Free PMC Article
    4. The ATG5 interactome links clathrin-mediated vesicular trafficking with the autophagosome assembly machinery. Baines K, et al. Autophagy Rep, 2022. PMID 35449600, Free PMC Article
    5. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Murtaza N, et al. Cell Rep, 2022 Nov 22. PMID 36417873

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
      Title: Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
    2. Rabgap1 promotes recycling of active beta1 integrins to support effective cell migration.
      Title: Rabgap1 promotes recycling of active β1 integrins to support effective cell migration.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA4104, MGC30493

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    rab GTPase-activating protein 1
    Names
    GAP and centrosome-associated protein
    rab6 GTPase activating protein (GAP and centrosome-associated)
    rab6 GTPase-activating protein GAPCenA

    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_001033960.1 → NP_001029132.1  rab GTPase-activating protein 1 isoform b

      See identical proteins and their annotated locations for NP_001029132.1

      Status: VALIDATED

      Source sequence(s)
      AK044346
      Consensus CDS
      CCDS16003.1
      UniProtKB/Swiss-Prot
      A2AWA9
      Related
      ENSMUSP00000068835.4, ENSMUST00000066055.10
      Conserved Domains (3) summary
      smart00164
      Location:558 → 767
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01211
      Location:140 → 268
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:302 → 432
      DUF3694; Kinesin protein

    2. NM_001362956.1 → NP_001349885.1  rab GTPase-activating protein 1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL953890
      Consensus CDS
      CCDS16002.1
      UniProtKB/Swiss-Prot
      A2AWA9, Q5DTN1, Q8BQ32, Q8C8W3, Q8CD74, Q8R312
      UniProtKB/TrEMBL
      B2RRC5
      Related
      ENSMUSP00000108542.2, ENSMUST00000112920.2
      Conserved Domains (4) summary
      smart00164
      Location:558 → 767
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01211
      Location:140 → 268
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:302 → 432
      DUF3694; Kinesin protein
      cl25742
      Location:789 → 1013
      ERM; Ezrin/radixin/moesin family

    3. NM_001362957.1 → NP_001349886.1  rab GTPase-activating protein 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL953890
      Consensus CDS
      CCDS16003.1
      Conserved Domains (3) summary
      smart00164
      Location:558 → 767
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01211
      Location:140 → 268
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:302 → 432
      DUF3694; Kinesin protein

    4. NM_001362958.1 → NP_001349887.1  rab GTPase-activating protein 1 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL953890
      Conserved Domains (4) summary
      smart00164
      Location:490 → 699
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01211
      Location:72 → 200
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:234 → 364
      DUF3694; Kinesin protein
      cl25742
      Location:721 → 945
      ERM; Ezrin/radixin/moesin family

    5. NM_146121.2 → NP_666233.2  rab GTPase-activating protein 1 isoform a

      See identical proteins and their annotated locations for NP_666233.2

      Status: VALIDATED

      Source sequence(s)
      AK220489, BY021872
      Consensus CDS
      CCDS16002.1
      UniProtKB/Swiss-Prot
      A2AWA9, Q5DTN1, Q8BQ32, Q8C8W3, Q8CD74, Q8R312
      UniProtKB/TrEMBL
      B2RRC5
      Related
      ENSMUSP00000061624.6, ENSMUST00000061179.12
      Conserved Domains (4) summary
      smart00164
      Location:558 → 767
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01211
      Location:140 → 268
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:302 → 432
      DUF3694; Kinesin protein
      cl25742
      Location:789 → 1013
      ERM; Ezrin/radixin/moesin family

    RNA

    1. NR_156419.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL953890

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      37333274..37463653
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497997.5 → XP_006498060.1  rab GTPase-activating protein 1 isoform X2

      Conserved Domains (3) summary
      smart00164
      Location:558 → 767
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01211
      Location:140 → 268
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:302 → 432
      DUF3694; Kinesin protein

    2. XM_006497995.5 → XP_006498058.1  rab GTPase-activating protein 1 isoform X1

      Conserved Domains (4) summary
      smart00164
      Location:540 → 749
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01211
      Location:122 → 250
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam00769
      Location:771 → 997
      ERM; Ezrin/radixin/moesin family
      pfam12473
      Location:284 → 414
      DUF3694; Kinesin protein

    3. XM_030250053.1 → XP_030105913.1  rab GTPase-activating protein 1 isoform X2

      Conserved Domains (3) summary
      smart00164
      Location:558 → 767
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01211
      Location:140 → 268
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:302 → 432
      DUF3694; Kinesin protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2AWA9.1 GenPept UniProtKB/Swiss-Prot:A2AWA9

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