Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79890
Gene name Gene Name - the full gene name approved by the HGNC.
Ras and Rab interactor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RIN3
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610223 18751 ENSG00000100599
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or gastroesophageal reflux disease N/A N/A GWAS
Asthma Asthma N/A N/A GWAS
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Breast cancer Breast cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 28199971, 30258121, 30830563, 33419465, 33794991, 35090342, 35241726, 36411364, 37322917
Amyloidosis Associate 33419465
Anemia Sickle Cell Associate 17156400
Cognition Disorders Associate 28199971, 37322917
Cognitive Dysfunction Associate 37322917
Dementia Associate 30830563
Dementia Vascular Associate 30830563
Fractures Spontaneous Associate 33419465
Hyperostosis corticalis deformans juvenilis Associate 24945404
Lung Diseases Associate 26635082