Gene Gene information from NCBI Gene database.
Entrez ID 5861
Gene name RAB1A, member RAS oncogene family
Gene symbol RAB1A
Synonyms (NCBI Gene)
RAB1YPT1
Chromosome 2
Chromosome location 2p14
Summary This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multipl
miRNA miRNA information provided by mirtarbase database.
515
miRTarBase ID miRNA Experiments Reference
MIRT024685 hsa-miR-215-5p Microarray 19074876
MIRT026737 hsa-miR-192-5p Microarray 19074876
MIRT031267 hsa-miR-19b-3p Sequencing 20371350
MIRT031831 hsa-miR-16-5p Proteomics 18668040
MIRT054586 hsa-miR-221-3p Luciferase reporter assayQRTPCRWestern blot 23770851
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000045 Process Autophagosome assembly IMP 22939626
GO:0000139 Component Golgi membrane TAS
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
179508 9758 ENSG00000138069
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62820
Protein name Ras-related protein Rab-1A (EC 3.6.5.2) (YPT1-related protein)
Protein function The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:20639577, PubMed:20861236, PubMed:21303926, PubMed:22939626). Rabs cycle between an i
PDB 2FOL , 2WWX , 3L0I , 3SFV , 3TKL , 4FMB , 4FMC , 4FMD , 4FME , 4IRU , 4JVS , 7EQ2 , 9MHF , 9MHG , 9MHH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 13 174 Ras family Domain
Sequence
Sequence length 205
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Autophagy - animal
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Legionellosis
  Golgi Cisternae Pericentriolar Stack Reorganization
COPII-mediated vesicle transport
COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet
★★☆☆☆
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
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 26298469
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 24555545
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 24555545
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 37581400 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm Bladder Neoplasm BEFREE 31843814
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28184936, 30058685, 31485677
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30058685, 31485677 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 15870709 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 29929861, 8049130
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26308575, 30058685, 36476239 Associate
★☆☆☆☆
Found in Text Mining only