NIPSNAP1 (nipsnap homolog 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 8508 |
| Gene name | Nipsnap homolog 1 |
| Gene symbol | NIPSNAP1 |
| Synonyms (NCBI Gene) |
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| Chromosome | 22 |
| Chromosome location | 22q12.2 |
| Summary | This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in m |
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miRNA
miRNA information provided by mirtarbase database.
547
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
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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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Q9BPW8 | ||||||||||
| Protein name | Protein NipSnap homolog 1 (NipSnap1) | ||||||||||
| Protein function | Protein involved in mitophagy by facilitating recruitment of the autophagy machinery required for clearance of damaged mitochondria (PubMed:30982665). Accumulates on the mitochondria surface in response to mitochondrial depolarization and acts a | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitous (PubMed:9661659). Highest expression in liver (PubMed:9661659). {ECO:0000269|PubMed:9661659}. | ||||||||||
| Sequence |
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| Sequence length | 284 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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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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