CLVS1 (clavesin 1)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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157807 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Clavesin 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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CLVS1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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C6orf212L, CRALBPL, RLBP1L1 |
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Chromosome
Chromosome number
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8 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8q12.2-q12.3 |
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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 | Q8IUQ0 | |||||||||||||||
| Protein name | Clavesin-1 (Cellular retinaldehyde-binding protein-like) (Retinaldehyde-binding protein 1-like 1) (clathrin vesicle-associated Sec14 protein 1) | |||||||||||||||
| Protein function | Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed mainly in the brain. {ECO:0000269|PubMed:16802092}. | |||||||||||||||
| Sequence |
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| Sequence length | 354 | |||||||||||||||
| 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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