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

Gene ID: 23637, updated on 5-Mar-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
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Genomic context

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See RABGAP1 in Genome Data Viewer
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 cell cycle IEA
Inferred from Electronic Annotation
more info
  
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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