VPS41 (VPS41 subunit of HOPS complex)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 27072 |
| Gene name | VPS41 subunit of HOPS complex |
| Gene symbol | VPS41 |
| Synonyms (NCBI Gene) |
HVPS41HVSP41SCAR29hVps41p
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| Chromosome | 7 |
| Chromosome location | 7p14.1 |
| Summary | Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuol |
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miRNA
miRNA information provided by mirtarbase database.
406
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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P49754 | ||||||||||
| Protein name | Vacuolar protein sorting-associated protein 41 homolog (S53) | ||||||||||
| Protein function | Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Acts as a component of the HOPS endosomal tethering complex. This complex is proposed to be involv | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in cerebral cortex and cerebellum. Highly expressed in Purkinje cells. {ECO:0000269|PubMed:33764426}. | ||||||||||
| Sequence |
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| Sequence length | 854 | ||||||||||
| 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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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