RAB5C (RAB5C, member RAS oncogene family)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5878
Gene name Gene Name - the full gene name approved by the HGNC.
RAB5C, member RAS oncogene family
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAB5C
Synonyms (NCBI Gene) Gene synonyms aliases
L1880, RAB5CL, RAB5L, RABL
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMI
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(784)
miRTarBase ID miRNA Experiments Reference
MIRT001510 hsa-miR-155-5p pSILAC 18668040
MIRT016288 hsa-miR-193b-3p Proteomics 21512034
MIRT001510 hsa-miR-155-5p Proteomics;Other 18668040
MIRT048550 hsa-miR-100-5p CLASH 23622248
MIRT046868 hsa-miR-221-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(38)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 17562788
GO:0003924 Function GTPase activity IEA
GO:0003924 Function GTPase activity TAS 8646882
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604037 9785 ENSG00000108774
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P51148
Protein name Ras-related protein Rab-5C (EC 3.6.5.2) (L1880) (RAB5L)
Protein function The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to r
PDB 4KYI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 23 → 184 Ras family Domain
Sequence
Sequence length 216
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Ras signaling pathway
Mitophagy - animal
Endocytosis
Phagosome
Efferocytosis
Vasopressin-regulated water reabsorption
Salmonella infection
Amoebiasis
Tuberculosis 		  Golgi Associated Vesicle Biogenesis
Neutrophil degranulation
TBC/RABGAPs
Clathrin-mediated endocytosis
RAB geranylgeranylation
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)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
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
Hypothyroidism Hypothyroidism N/A N/A GWAS
Vitiligo Vitiligo N/A N/A GWAS
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 40545963
Heart Failure Associate 32602534
Ovarian Neoplasms Associate 25096996
Precursor B Cell Lymphoblastic Leukemia Lymphoma Associate 25368993
Precursor Cell Lymphoblastic Leukemia Lymphoma Associate 25368993
Thyroid Cancer Papillary Associate 32788878
Triple Negative Breast Neoplasms Associate 40545963