Gene Gene information from NCBI Gene database.
Entrez ID 23637
Gene name RAB GTPase activating protein 1
Gene symbol RABGAP1
Synonyms (NCBI Gene)
GAPCENATBC1D11
Chromosome 9
Chromosome location 9q33.2-q33.3
miRNA miRNA information provided by mirtarbase database.
828
miRTarBase ID miRNA Experiments Reference
MIRT004150 hsa-miR-192-5p Microarray 16822819
MIRT021450 hsa-miR-9-5p Microarray 17612493
MIRT030972 hsa-miR-21-5p Microarray 18591254
MIRT048971 hsa-miR-92a-3p CLASH 23622248
MIRT041085 hsa-miR-504-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 17562788
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity TAS 10202141
GO:0005515 Function Protein binding IPI 20562859, 22354992, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615882 17155 ENSG00000011454
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y3P9
Protein name Rab GTPase-activating protein 1 (GAP and centrosome-associated protein) (Rab6 GTPase-activating protein GAPCenA)
Protein function May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition. {ECO:0000269|PubMed:10202141, ECO:0000269|PubMed
PDB 4NC6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00640 PID 151 274 Phosphotyrosine interaction domain (PTB/PID) Domain
PF12473 DUF3694 306 437 Kinesin protein Family
PF00566 RabGAP-TBC 569 772 Rab-GTPase-TBC domain Family
Sequence
MDDKASVGKISVSSDSVSTLNSEDFVLVSRQGDETPSTNNGSDDEKTGLKIVGNGSEQQL
QKELADVLMDPPMDDQPGEKELVKRSQLDGEGDGPLSNQLSASSTINPVPLVGLQKPEMS
LPVKPGQGDSEASSPFTPVADEDSVVFSKLTYLGCASVNAPRSEVEALRMMSILRSQCQI
SLDVTLSVPNVSEGIVRLLDPQTNTEIANYPIYKILFCVRGHDGTPESDCFAFTESHYNA
ELFRIHVFRCEIQEAVSRILYSFATAFRRSAKQT
PLSATAAPQTPDSDIFTFSVSLEIKE
DDGKGYFSAVPKDKDRQCFKLRQGIDKKIVIYVQQTTNKELAIERCFGLLLSPGKDVRNS
DMHLLDLESMGKSSDGKSYVITGSWNPKSPHFQVVNEETPKDKVLFMTTAVDLVITEVQE
PVRFLLETKVRVCSPNE
RLFWPFSKRSTTENFFLKLKQIKQRERKNNTDTLYEVVCLESE
SERERRKTTASPSVRLPQSGSQSSVIPSPPEDDEEEDNDEPLLSGSGDVSKECAEKILET
WGELLSKWHLNLNVRPKQLSSLVRNGVPEALRGEVWQLLAGCHNNDHLVEKYRILITKES
PQDSAITRDINRTFPAHDYFKDTGGDGQDSLYKICKAYSVYDEEIGYCQGQSFLAAVLLL
HMPEEQAFSVLVKIMFDYGLRELFKQNFEDLHCKFYQLERLMQEYIPDLYNHFLDISLEA
HMYASQWFLTLFTAKFPLYMVFHIIDLLLCEGISVIFNVALGLLKTSKDDLL
LTDFEGAL
KFFRVQLPKRYRSEENAKKLMELACNMKISQKKLKKYEKEYHTMREQQAQQEDPIERFER
ENRRLQEANMRLEQENDDLAHELVTSKIALRKDLDNAEEKADALNKELLMTKQKLIDAEE
EKRRLEEESAQLKEMCRRELDKAESEIKKNSSIIGDYKQICSQLSERLEKQQTANKVEIE
KIRQKVDDCERCREFFNKEGRVKGISSTKEVLDEDTDEEKETLKNQLREMELELAQTKLQ
LVEAECKIQDLEHHLGLALNEVQAAKKTWFNRTLSSIKTATGVQGKETC
Sequence length 1069
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    TBC/RABGAPs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Neoplasms Neoplasms BEFREE 27748875
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 32948839 Associate
★☆☆☆☆
Found in Text Mining only