RBSN (rabenosyn, RAB effector)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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64145 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Rabenosyn, RAB effector |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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RBSN |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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KAREVS, MFANDO, Rabenosyn-5, ZFYVE20 |
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Chromosome
Chromosome number
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3 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3p25.1 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endo |
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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 | Q9H1K0 | |||||||||||||||||||||||||
| Protein name | Rabenosyn-5 (110 kDa protein) (FYVE finger-containing Rab5 effector protein rabenosyn-5) (RAB effector RBSN) (Zinc finger FYVE domain-containing protein 20) | |||||||||||||||||||||||||
| Protein function | Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking o | |||||||||||||||||||||||||
| PDB | 1YZM , 1Z0J , 1Z0K | |||||||||||||||||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 784 | |||||||||||||||||||||||||
| 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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