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    RABGAP1 RAB GTPase activating protein 1 [ Homo sapiens (human) ]

    Gene ID: 23637, updated on 5-May-2024

    Summary

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    Official Symbol
    RABGAP1provided by HGNC
    Official Full Name
    RAB GTPase activating protein 1provided by HGNC
    Primary source
    HGNC:HGNC:17155
    See related
    Ensembl:ENSG00000011454 MIM:615882; AllianceGenome:HGNC:17155
    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
    GAPCENA; TBC1D11
    Summary
    Enables GTPase activator activity and small GTPase binding activity. Involved in regulation of GTPase activity. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 21.8), brain (RPKM 18.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9q33.2-q33.3
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (122931671..123104866)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (135128522..135302077)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (125703299..125867145)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125677135-125677892 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:125683768-125684268 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:125684269-125684769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28931 Neighboring gene uncharacterized LOC105379839 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:125703098-125703822 Neighboring gene zinc finger and BTB domain containing 6 Neighboring gene zinc finger and BTB domain containing 26 Neighboring gene RNY1 pseudogene 15 Neighboring gene ribosomal protein S25 pseudogene 8 Neighboring gene COP9 signalosome subunit 2 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:125834601-125835274 Neighboring gene G protein-coupled receptor 21 Neighboring gene Sharpr-MPRA regulatory region 8358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28932 Neighboring gene MIR600 host gene Neighboring gene microRNA 600 Neighboring gene spermatid perinuclear RNA binding protein Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:125937073-125937784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20247 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:126030691-126031191 Neighboring gene uncharacterized LOC105376265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28936

    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. Characterization of GAPCenA, a GTPase activating protein for Rab6, part of which associates with the centrosome. Cuif MH, et al. EMBO J, 1999 Apr 1. PMID 10202141, Free PMC Article
    2. Alternative splicing of the human Rab6A gene generates two close but functionally different isoforms. Echard A, et al. Mol Biol Cell, 2000 Nov. PMID 11071909, Free PMC Article
    3. The small GTPase Rab6B, a novel Rab6 subfamily member, is cell-type specifically expressed and localised to the Golgi apparatus. Opdam FJ, et al. J Cell Sci, 2000 Aug. PMID 10893188
    4. All members of the EPI64 subfamily of TBC/RabGAPs also have GAP activities towards Ras. Nagai H, et al. J Biochem, 2013 Mar. PMID 23248241
    5. Characterization of a family of nucleolar SUMO-specific proteases with preference for SUMO-2 or SUMO-3. Gong L, et al. J Biol Chem, 2006 Jun 9. PMID 16608850

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. suggest that EPI64A and B, which are ubiquitously expressed members of the EPI64 subfamily, inactivate Ras and certain Rabs at the periphery of cells.
      Title: All members of the EPI64 subfamily of TBC/RabGAPs also have GAP activities towards Ras.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    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

    • DKFZp586D2123

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tubulin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of microtubule associated complex TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    rab GTPase-activating protein 1
    Names
    GAP and centrosome-associated protein
    Rab6 GTPase activating protein, GAPCenA
    TBC1 domain family, member 11
    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_012197.4 → NP_036329.3  rab GTPase-activating protein 1

      See identical proteins and their annotated locations for NP_036329.3

      Status: VALIDATED

      Source sequence(s)
      AA948302, AL365338, BC054492, BG622097
      Consensus CDS
      CCDS6848.2
      UniProtKB/Swiss-Prot
      B9A6L2, Q05CW2, Q6ZMY1, Q9HA28, Q9P0E2, Q9UG67, Q9Y3P9
      Related
      ENSP00000362751.4, ENST00000373647.9
      Conserved Domains (4) summary
      smart00164
      Location:563 → 772
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:823 → 1047
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01211
      Location:145 → 273
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:307 → 437
      DUF3694; Kinesin protein

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      122931671..123104866
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423130.1 → XP_047279086.1  rab GTPase-activating protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B9A6L2, Q05CW2, Q6ZMY1, Q9HA28, Q9P0E2, Q9UG67, Q9Y3P9

    2. XM_017014567.3 → XP_016870056.1  rab GTPase-activating protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B9A6L2, Q05CW2, Q6ZMY1, Q9HA28, Q9P0E2, Q9UG67, Q9Y3P9
      Conserved Domains (4) summary
      smart00164
      Location:563 → 772
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:823 → 1047
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01211
      Location:145 → 273
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:307 → 437
      DUF3694; Kinesin protein

    3. XM_017014569.2 → XP_016870058.1  rab GTPase-activating protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B9A6L2, Q05CW2, Q6ZMY1, Q9HA28, Q9P0E2, Q9UG67, Q9Y3P9
      Conserved Domains (4) summary
      smart00164
      Location:563 → 772
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:823 → 1047
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01211
      Location:145 → 273
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:307 → 437
      DUF3694; Kinesin protein

    4. XM_017014568.2 → XP_016870057.1  rab GTPase-activating protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B9A6L2, Q05CW2, Q6ZMY1, Q9HA28, Q9P0E2, Q9UG67, Q9Y3P9
      Conserved Domains (4) summary
      smart00164
      Location:563 → 772
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:823 → 1047
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01211
      Location:145 → 273
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:307 → 437
      DUF3694; Kinesin protein

    5. XM_011518441.3 → XP_011516743.1  rab GTPase-activating protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011516743.1

      UniProtKB/Swiss-Prot
      B9A6L2, Q05CW2, Q6ZMY1, Q9HA28, Q9P0E2, Q9UG67, Q9Y3P9
      Conserved Domains (4) summary
      smart00164
      Location:563 → 772
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:823 → 1047
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01211
      Location:145 → 273
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:307 → 437
      DUF3694; Kinesin protein

    6. XM_011518440.4 → XP_011516742.1  rab GTPase-activating protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011516742.1

      UniProtKB/Swiss-Prot
      B9A6L2, Q05CW2, Q6ZMY1, Q9HA28, Q9P0E2, Q9UG67, Q9Y3P9
      Conserved Domains (4) summary
      smart00164
      Location:563 → 772
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:823 → 1047
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01211
      Location:145 → 273
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:307 → 437
      DUF3694; Kinesin protein

    7. XM_024447475.2 → XP_024303243.1  rab GTPase-activating protein 1 isoform X4

      Conserved Domains (3) summary
      smart00164
      Location:563 → 772
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01211
      Location:145 → 273
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:307 → 437
      DUF3694; Kinesin protein

    8. XM_011518444.3 → XP_011516746.1  rab GTPase-activating protein 1 isoform X5

      Conserved Domains (3) summary
      smart00164
      Location:563 → 663
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01211
      Location:145 → 273
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:356 → 437
      DUF3694; Kinesin protein

    9. XM_047423135.1 → XP_047279091.1  rab GTPase-activating protein 1 isoform X6

    10. XM_024447476.2 → XP_024303244.1  rab GTPase-activating protein 1 isoform X6

      Conserved Domains (3) summary
      cd01211
      Location:145 → 273
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:307 → 437
      DUF3694; Kinesin protein
      cl02495
      Location:563 → 597
      RabGAP-TBC; Rab-GTPase-TBC domain

    11. XM_047423134.1 → XP_047279090.1  rab GTPase-activating protein 1 isoform X6

    12. XM_024447474.2 → XP_024303242.1  rab GTPase-activating protein 1 isoform X2

      Conserved Domains (4) summary
      smart00164
      Location:495 → 704
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG1196
      Location:755 → 979
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd01211
      Location:77 → 205
      PTB_Rab6GAP; GTPase activating protein for Rab 6 Phosphotyrosine-binding (PTB) domain
      pfam12473
      Location:239 → 369
      DUF3694; Kinesin protein

    13. XM_047423132.1 → XP_047279088.1  rab GTPase-activating protein 1 isoform X3

    14. XM_047423131.1 → XP_047279087.1  rab GTPase-activating protein 1 isoform X3

    15. XM_024447477.2 → XP_024303245.1  rab GTPase-activating protein 1 isoform X7

      UniProtKB/TrEMBL
      B7Z2B4
      Conserved Domains (2) summary
      pfam00566
      Location:1 → 111
      RabGAP-TBC; Rab-GTPase-TBC domain
      NF033930
      Location:203 → 386
      pneumo_PspA; pneumococcal surface protein A

    RNA

    1. XR_007061269.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      135128522..135302077
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362577.1 → XP_054218552.1  rab GTPase-activating protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B9A6L2, Q05CW2, Q6ZMY1, Q9HA28, Q9P0E2, Q9UG67, Q9Y3P9

    2. XM_054362574.1 → XP_054218549.1  rab GTPase-activating protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B9A6L2, Q05CW2, Q6ZMY1, Q9HA28, Q9P0E2, Q9UG67, Q9Y3P9

    3. XM_054362576.1 → XP_054218551.1  rab GTPase-activating protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B9A6L2, Q05CW2, Q6ZMY1, Q9HA28, Q9P0E2, Q9UG67, Q9Y3P9

    4. XM_054362585.1 → XP_054218560.1  rab GTPase-activating protein 1 isoform X6

    5. XM_054362578.1 → XP_054218553.1  rab GTPase-activating protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B9A6L2, Q05CW2, Q6ZMY1, Q9HA28, Q9P0E2, Q9UG67, Q9Y3P9

    6. XM_054362575.1 → XP_054218550.1  rab GTPase-activating protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B9A6L2, Q05CW2, Q6ZMY1, Q9HA28, Q9P0E2, Q9UG67, Q9Y3P9

    7. XM_054362582.1 → XP_054218557.1  rab GTPase-activating protein 1 isoform X4

    8. XM_054362583.1 → XP_054218558.1  rab GTPase-activating protein 1 isoform X5

    9. XM_054362586.1 → XP_054218561.1  rab GTPase-activating protein 1 isoform X6

    10. XM_054362584.1 → XP_054218559.1  rab GTPase-activating protein 1 isoform X6

    11. XM_054362579.1 → XP_054218554.1  rab GTPase-activating protein 1 isoform X2

    12. XM_054362581.1 → XP_054218556.1  rab GTPase-activating protein 1 isoform X3

    13. XM_054362580.1 → XP_054218555.1  rab GTPase-activating protein 1 isoform X3

    14. XM_054362587.1 → XP_054218562.1  rab GTPase-activating protein 1 isoform X7

      UniProtKB/TrEMBL
      B7Z2B4

    RNA

    1. XR_008487972.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3P9.3 GenPept UniProtKB/Swiss-Prot:Q9Y3P9

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