Gene Gene information from NCBI Gene database.
Entrez ID 79890
Gene name Ras and Rab interactor 3
Gene symbol RIN3
Synonyms (NCBI Gene)
-
Chromosome 14
Chromosome location 14q32.12
Summary Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternativ
miRNA miRNA information provided by mirtarbase database.
53
miRTarBase ID miRNA Experiments Reference
MIRT491628 hsa-miR-3184-5p PAR-CLIP 23592263
MIRT491626 hsa-miR-423-5p PAR-CLIP 23592263
MIRT491625 hsa-miR-1914-3p PAR-CLIP 23592263
MIRT491624 hsa-miR-5194 PAR-CLIP 23592263
MIRT491623 hsa-miR-6738-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0002091 Process Negative regulation of receptor internalization IMP 23185384
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IMP 21586568, 23185384
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610223 18751 ENSG00000100599
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TB24
Protein name Ras and Rab interactor 3 (Ras interaction/interference protein 3)
Protein function Ras effector protein that functions as a guanine nucleotide exchange (GEF) for RAB5B and RAB31, by exchanging bound GDP for free GTP. Required for normal RAB31 function.
PDB 3U23 , 4WCI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02204 VPS9 739 842 Vacuolar sorting protein 9 (VPS9) domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12972505}.
Sequence
MIRHAGAPARGDPTGPVPVVGKGEEEEEEDGMRLCLPANPKNCLPHRRGISILEKLIKTC
PVWLQLSLGQAEVARILHRVVAGMFLVRRDSSSKQLVLCVHFPSLNESSAEVLEYTIKEE
KSILYLEGSALVFEDIFRLIAFYCVSRDLLPFTLRLPQAILEASSFTDLETIANLGLGFW
DSSLNPPQERGKPAEPPRDRAPGFPLVSSLRPTAHDANCACEIELSVGNDRLWFVNPIFI
EDCSSALPTDQPPLGNCPARPLPPTSDATSPTSRWAPRRPPPPPPVLPLQPCSPAQPPVL
PALAPAPACPLPTSPPVPAPHVTPHAPGPPDHPNQPPMMTCERLPCPTAGLGPLREEAMK
PGAASSPLQQVPAPPLPAKKNLPTAPPRRRVSERVSLEDQSPGMAAEGDQLSLPPQGTSD
GPEDTPRESTEQGQDTEVKASDPHSMPELPRTAKQPPVPPPRKKRISRQLASTLPAPLEN
AELCTQAMALETPTPGPPREGQSPASQAGTQHPPAQATAHSQSSPEFKGSLASLSDSLGV
SVMATDQDSYSTSSTEEELEQFSSPSVKKKPSMILGKARHRLSFASFSSMFHAFLSNNRK
LYKKVVELAQDKGSYFGSLVQDYKVYSLEMMARQTSSTEMLQEIRTMMTQLKSYLLQSTE
LKALVDPALHSEEELEAIVESALYKCVLKPLKEAINSCLHQIHSKDGSLQQLKENQLVIL
ATTTTDLGVTTSVPEVPMMEKILQKFTSMHKAYSPEKKISILLKTCKLIYDSMALGNPGK
PYGADDFLPVLMYVLARSNLTEMLLNVEYMMELMDPALQLGEGSYYLTTTYGALEHIKSY
DK
ITVTRQLSVEVQDSIHRWERRRTLNKARASRSSVQDFICVSYLEPEQQARTLASRADT
QAQALCAQCAEKFAVERPQAHRLFVLVDGRCFQLADDALPHCIKGYLLRSEPKRDFHFVY
RPLDGGGGGGGGSPPCLVVREPNFL
Sequence length 985
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS 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
Alzheimer Disease Alzheimer disease Pubtator 28199971, 30258121, 30830563, 33419465, 33794991, 35090342, 35241726, 36411364, 37322917 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset Alzheimer disease BEFREE 28738127
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis Pubtator 33419465 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 17156400 Associate
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 28199971, 37322917 Associate
★☆☆☆☆
Found in Text Mining only
Cognitive Dysfunction Cognition disorder Pubtator 37322917 Associate
★☆☆☆☆
Found in Text Mining only
Dementia Dementia BEFREE 30830563
★☆☆☆☆
Found in Text Mining only
Dementia Dementia Pubtator 30830563 Associate
★☆☆☆☆
Found in Text Mining only
Dementia Vascular Vascular dementia Pubtator 30830563 Associate
★☆☆☆☆
Found in Text Mining only
Dementia, Vascular Dementia BEFREE 30830563
★☆☆☆☆
Found in Text Mining only