Gene Gene information from NCBI Gene database.
Entrez ID 117177
Gene name RAB3A interacting protein
Gene symbol RAB3IP
Synonyms (NCBI Gene)
RABIN3RABIN8
Chromosome 12
Chromosome location 12q15
miRNA miRNA information provided by mirtarbase database.
988
miRTarBase ID miRNA Experiments Reference
MIRT047202 hsa-miR-182-5p CLASH 23622248
MIRT042106 hsa-miR-484 CLASH 23622248
MIRT609521 hsa-miR-629-5p HITS-CLIP 23824327
MIRT609520 hsa-miR-3940-5p HITS-CLIP 23824327
MIRT609519 hsa-miR-4507 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 20937701
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS
GO:0005515 Function Protein binding IPI 12007189, 16189514, 17574030, 19060904, 20308558, 21273506, 22159412, 25416956, 25910212, 26258637, 26824392, 26871637, 27173435, 29892012, 31467083, 32296183, 32814053, 33961781, 36217029
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608686 16508 ENSG00000127328
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96QF0
Protein name Rab-3A-interacting protein (Rab3A-interacting protein) (Rabin-3) (Rabin8) (SSX2-interacting protein)
Protein function Guanine nucleotide exchange factor (GEF) which may activate RAB8A and RAB8B (PubMed:12221131, PubMed:26824392). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:12221131, Pu
PDB 4LHX , 4LHY , 4LHZ , 4UJ3 , 4UJ4 , 4UJ5 , 6F6P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06428 Sec2p 187 270 GDP/GTP exchange factor Sec2p Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, kidney, heart, pancreas and placenta. Not detected in skeletal muscle or liver. {ECO:0000269|PubMed:12007189, ECO:0000269|PubMed:12221131}.
Sequence
MGLKKMKGLSYDEAFAMANDPLEGFHEVNLASPTSPDLLGVYESGTQEQTTSPSVIYRPH
PSALSSVPIQANALDVSELPTQPVYSSPRRLNCAEISSISFHVTDPAPCSTSGVTAGLTK
LTTRKDNYNAEREFLQGATITEACDGSDDIFGLSTDSLSRLRSPSVLEVREKGYERLKEE
LAKAQRELKLKDEECERLSKVRDQLGQELEELTASLFEEAHKMVREANIKQATAEKQLKE
AQGKIDVLQAEVAALKTLVLSSSPTSPTQE
PLPGGKTPFKKGHTRNKSTSSAMSGSHQDL
SVIQPIVKDCKEADLSLYNEFRLWKDEPTMDRTCPFLDKIYQEDIFPCLTFSKSELASAV
LEAVENNTLSIEPVGLQPIRFVKASAVECGGPKKCALTGQSKSCKHRIKLGDSSNYYYIS
PFCRYRITSVCNFFTYIRYIQQGLVKQQDVDQMFWEVMQLRKEMSLAKLGYFKEEL
Sequence length 476
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Anchoring of the basal body to the plasma membrane
VxPx cargo-targeting to cilium
BBSome-mediated cargo-targeting to cilium
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Uncertain significance 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
Colorectal Neoplasms Colorectal neoplasm Pubtator 32221048 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 30005870, 30519341
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 30738012
★☆☆☆☆
Found in Text Mining only
Stomach Carcinoma Stomach Carcinoma BEFREE 30005870, 30519341
★☆☆☆☆
Found in Text Mining only