Gene Gene information from NCBI Gene database.
Entrez ID 5868
Gene name RAB5A, member RAS oncogene family
Gene symbol RAB5A
Synonyms (NCBI Gene)
RAB5
Chromosome 3
Chromosome location 3p24.3
miRNA miRNA information provided by mirtarbase database.
484
miRTarBase ID miRNA Experiments Reference
MIRT006150 hsa-miR-101-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21915098
MIRT006150 hsa-miR-101-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21915098
MIRT006150 hsa-miR-101-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21915098
MIRT006150 hsa-miR-101-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21915098
MIRT006150 hsa-miR-101-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21915098
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
91
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001726 Component Ruffle IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 15378032, 17562788, 24891604
GO:0003924 Function GTPase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
179512 9783 ENSG00000144566
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20339
Protein name Ras-related protein Rab-5A (EC 3.6.5.2)
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 1N6H , 1N6I , 1N6K , 1N6L , 1N6N , 1N6O , 1N6P , 1N6R , 1R2Q , 1TU3 , 1TU4 , 3MJH , 4Q9U , 7BL1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 22 183 Ras family Domain
Sequence
Sequence length 215
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ras signaling pathway
Mitophagy - animal
Endocytosis
Phagosome
Efferocytosis
Vasopressin-regulated water reabsorption
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Salmonella infection
Amoebiasis
Tuberculosis
  Synthesis of PIPs at the plasma membrane
TBC/RABGAPs
Clathrin-mediated endocytosis
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs
Prevention of phagosomal-lysosomal fusion
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
MYOCARDIAL ISCHEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Abnormalities Drug Induced Associate 18535180
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 35017116
★☆☆☆☆
Found in Text Mining only
Adenoma Stimulate 12034881
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Associate 10880397, 18535180, 20655510
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Stimulate 20847427, 21669283
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Associate 29469808
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis 2 Juvenile Associate 30224357
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Associate 28899395, 35059464
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 21895870, 25755726, 27023526, 30659094, 34741021, 38470169
★☆☆☆☆
Found in Text Mining only
Calcinosis Cutis Associate 26110570
★☆☆☆☆
Found in Text Mining only