RABGEF1 (RAB guanine nucleotide exchange factor 1)
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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27342 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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RAB guanine nucleotide exchange factor 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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RABGEF1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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RABEX5, RAP1, rabex-5 |
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Chromosome
Chromosome number
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7 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7q11.21 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| 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
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| Sequence |
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| Sequence length | 491 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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