SPNS1 (SPNS lysolipid transporter 1, lysophospholipid)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 83985 |
| Gene name | SPNS lysolipid transporter 1, lysophospholipid |
| Gene symbol | SPNS1 |
| Synonyms (NCBI Gene) |
HSpin1LATPP2030SLC62A1SLC63A1SPIN1SPINLnrs
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| Chromosome | 16 |
| Chromosome location | 16p11.2 |
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miRNA
miRNA information provided by mirtarbase database.
103
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
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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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Q9H2V7 | ||||||||||
| Protein name | Protein spinster homolog 1 (HSpin1) (SPNS1) (Spinster-like protein 1) | ||||||||||
| Protein function | Plays a critical role in the phospholipid salvage pathway from lysosomes to the cytosol (PubMed:36161949, PubMed:37075117). Mediates the rate-limiting, proton-dependent, lysosomal efflux of lysophospholipids, which can then be reacylated by acyl | ||||||||||
| PDB | 9BOI | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 528 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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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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