VPS13D (vacuolar protein sorting 13 homolog D)
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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55187 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Vacuolar protein sorting 13 homolog D |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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VPS13D |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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BLTP5D, SCA24, SCAR4, SCASI |
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Chromosome
Chromosome number
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1 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p36.22-p36.21 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While se |
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SNPs
SNP information provided by dbSNP.
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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 | Q5THJ4 | ||||||||||||||||||||||||||||||||||||||||
| Protein name | Intermembrane lipid transfer protein VPS13D (Vacuolar protein sorting-associated protein 13D) | ||||||||||||||||||||||||||||||||||||||||
| Protein function | Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Functions in promoting mitochondrial clearance by mitochondrial autophagy (mitophagy), also possibly by positively regulating mitochondrial fission (Pu | ||||||||||||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15498460}. | ||||||||||||||||||||||||||||||||||||||||
| Sequence |
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| Sequence length | 4388 | ||||||||||||||||||||||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||||||||||||||||||||||
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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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