Gene Gene information from NCBI Gene database.
Entrez ID 9910
Gene name RAB GTPase activating protein 1 like
Gene symbol RABGAP1L
Synonyms (NCBI Gene)
HHLTBC1D18
Chromosome 1
Chromosome location 1q25.1
miRNA miRNA information provided by mirtarbase database.
145
miRTarBase ID miRNA Experiments Reference
MIRT002797 hsa-miR-1-3p Microarray 15685193
MIRT002797 hsa-miR-1-3p Microarray;Other 15685193
MIRT687098 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT687097 hsa-miR-106b-5p HITS-CLIP 23313552
MIRT687096 hsa-miR-17-5p HITS-CLIP 23313552
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 16923123
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 20562859, 25814554, 32814053, 35271311
GO:0005634 Component Nucleus IDA 16923123
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609238 24663 ENSG00000152061
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5R372
Protein name Rab GTPase-activating protein 1-like
Protein function GTP-hydrolysis activating protein (GAP) for small GTPase RAB22A, converting active RAB22A-GTP to the inactive form RAB22A-GDP (PubMed:16923123). Plays a role in endocytosis and intracellular protein transport. Recruited by ANK2 to phosphatidylin
PDB 3HZJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12473 DUF3694 290 421 Kinesin protein Family
PF00566 RabGAP-TBC 541 744 Rab-GTPase-TBC domain Family
Sequence
MEVRASLQKVSGSSDSVATMNSEEFVLVPQYADDNSTKHEEKPQLKIVSNGDEQLEKAME
EILRDSEKRPSSLLVDCQSSSEISDHSFGDIPASQTNKPSLQLILDPSNTEISTPRPSSP
GGLPEEDSVLFNKLTYLGCMKVSSPRNEVEALRAMATMKSSSQYPFPVTLYVPNVPEGSV
RIIDQSSNVEIASFPIYKVLFCARGHDGTTESNCFAFTESSHGSEEFQIHVFSCEIKEAV
SRILYSFCTAFKRSSRQVSDVKDSVIPTPDSDVFTFSVSLEVKEDDGKGNFSPVPKDRDK
FYFKLKQGIEKKVVITVQQLSNKELAIERCFGMLLSPGRNVKNSDMHLLDMESMGKSYDG
RAYVITGMWNPNAPVFLALNEETPKDKQVYMTVAVDMVVTEVVEPVRFLLETVVRVYPAN
E
RFWYFSRKTFTETFFMRLKQSEGKGHTNAGDAIYEVVSLQRESDKEEPVTPTSGGGPMS
PQDDEAEEESDNELSSGTGDVSKDCPEKILYSWGELLGKWHSNLGARPKGLSTLVKSGVP
EALRAEVWQLLAGCHDNQAMLDRYRILITKDSAQESVITRDIHRTFPAHDYFKDTGGDGQ
ESLYKICKAYSVYDEDIGYCQGQSFLAAVLLLHMPEEQAFCVLVKIMYDYGLRDLYRNNF
EDLHCKFYQLERLMQEQLPDLHSHFSDLNLEAHMYASQWFLTLFTAKFPLCMVFHIIDLL
LCEGLNIIFHVALALLKTSKEDLL
QADFEGALKFFRVQLPKRYRAEENARRLMEQACNIK
VPTKKLKKYEKEYQTMRESQLQQEDPMDRYKFVYL
Sequence length 815
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
B7ZAP0
Protein name Rab GTPase-activating protein 1-like, isoform 10
Family and domains
Sequence
MIENSSWSMTFEERENRRLQEASMRLEQENDDLAHELVTSKIALRNDLDQAEDKADVLNK
ELLLTKQRLVETEEEKRKQEEETAQLKEVFRKQLEKAEYEIKKTTAIIAEYKQICSQLST
RLEKQQAASKEELEVVKGKMMACKHCSDIFSKEGALKLAATGREDQGIETDDEKDSLKKQ
LREMELELAQTKLQLVEAKCKIQELEHQRGALMNEIQAAKNSWFSKTLNSIKTATGTQPL
QPAPVTQPPKEST
Sequence length 253
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholesteatoma Likely pathogenic rs1035337401 RCV002292664
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs17854182 RCV005932883
Clear cell carcinoma of kidney Benign rs17854182, rs61747504 RCV005932884
RCV005932887
Hepatocellular carcinoma Benign rs61747504 RCV005932886
Melanoma Benign rs17854182, rs61747504 RCV005932885
RCV005932888
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cholangiocarcinoma Associate 24563076
Colorectal Neoplasms Associate 36345155
Lupus Erythematosus Systemic Associate 23335107
Neoplasms Associate 33772001
Non alcoholic Fatty Liver Disease Associate 34828420