Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27342
Gene name Gene Name - the full gene name approved by the HGNC.
RAB guanine nucleotide exchange factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RABGEF1
Synonyms (NCBI Gene) Gene synonyms aliases
RABEX5, RAP1, rabex-5
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[suppli
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023256 hsa-miR-122-5p Microarray 17612493
MIRT700311 hsa-miR-6508-5p HITS-CLIP 23313552
MIRT700310 hsa-miR-8067 HITS-CLIP 23313552
MIRT700309 hsa-miR-4795-5p HITS-CLIP 23313552
MIRT700308 hsa-miR-5687 HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 20937701
GO:0005085 Function Guanyl-nucleotide exchange factor activity IMP 23382462
GO:0005515 Function Protein binding IPI 16189514, 16499958, 17450153, 25416956
GO:0005730 Component Nucleolus IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609700 17676 ENSG00000154710
Protein
UniProt ID Q9UJ41
Protein name Rab5 GDP/GTP exchange factor (RAP1) (Rabaptin-5-associated exchange factor for Rab5) (Rabex-5)
Protein function Rab effector protein acting as linker between gamma-adaptin, RAB4A or RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Stimulates nucleotide exchange on RAB5A. Can act as a ubiquitin ligase (By simila
PDB 1TXU , 2C7M , 2C7N , 2OT3 , 4N3X , 4N3Y , 4N3Z , 4Q9U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01754 zf-A20 17 40 A20-like zinc finger Family
PF18151 DUF5601 158 220 Domain of unknown function (DUF5601) Domain
PF02204 VPS9 268 371 Vacuolar sorting protein 9 (VPS9) domain Family
Sequence
MSLKSERRGIHVDQSDLLCKKGCGYYGNPAWQGFCSKCWREEYHKARQKQIQEDWELAER
LQREEEEAFASSQSSQGAQSLTFSKFEEKKTNEKTRKVTTVKKFFSASSRVGSKKEIQEA
KAPSPSINRQTSIETDRVSKEFIEFLKTFHKTGQEIYKQTKLFLEGMHYKRDLSIEEQSE
CAQDFYHNVAERMQTRGKVPPERVEKIMDQIEKYIMTRLY
KYVFCPETTDDEKKDLAIQK
RIRALRWVTPQMLCVPVNEDIPEVSDMVVKAITDIIEMDSKRVPRDKLACITKCSKHIFN
AIKITKNEPASADDFLPTLIYIVLKGNPPRLQSNIQYITRFCNPSRLMTGEDGYYFTNLC
CAVAFIEKLDA
QSLNLSQEDFDRYMSGQTSPRKQEAESWSPDACLGVKQMYKNLDLLSQL
NERQERIMNEAKKLEKDLIDWTDGIAREVQDIVEKYPLEIKPPNQPLAAIDSENVENDKL
PPPLQPQVYAG
Sequence length 491
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Mitophagy - animal   TBC/RABGAPs
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Unknown
Disease term Disease name Evidence References Source
Alzheimer disease Alzheimer disease GWAS
Ischemic Stroke Ischemic Stroke GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37682707
Carcinoma Non Small Cell Lung Associate 35836137
Colorectal Neoplasms Associate 24716822, 28617553
Inflammatory Bowel Diseases Associate 24155895
Leukemia Lymphocytic Chronic B Cell Associate 14615375
Lymphatic Metastasis Stimulate 24716822
Neoplasms Associate 16224153, 24716822, 26002576
Prostatic Neoplasms Stimulate 24716822
Small Cell Lung Carcinoma Associate 26002576