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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cholesteatoma Likely pathogenic rs1035337401 RCV002292664
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
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
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 31695843
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 24563076 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 36345155 Associate
★☆☆☆☆
Found in Text Mining only
Common Migraine Common Migraine GWASDB_DG 23793025
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 19851296
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 23335107 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus BEFREE 23335107
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 29942085
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of prostate Prostate cancer BEFREE 31695843
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma BEFREE 12706106
★★☆☆☆
Found in Text Mining + Unknown/Other Associations