SPNS1 (SPNS lysolipid transporter 1, lysophospholipid)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 83985
Gene name SPNS lysolipid transporter 1, lysophospholipid
Gene symbol SPNS1
Synonyms (NCBI Gene)
HSpin1LATPP2030SLC62A1SLC63A1SPIN1SPINLnrs
Chromosome 16
Chromosome location 16p11.2
miRNA miRNA information provided by mirtarbase database.
103
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (103)
miRTarBase ID miRNA Experiments Reference
MIRT041120 hsa-miR-503-5p CLASH 23622248
MIRT036406 hsa-miR-1227-3p CLASH 23622248
MIRT645363 hsa-miR-495-3p HITS-CLIP 23824327
MIRT645362 hsa-miR-5688 HITS-CLIP 23824327
MIRT645361 hsa-miR-6832-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12815463
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IEA
GO:0005764 Component Lysosome IEA
GO:0005764 Component Lysosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612583 30621 ENSG00000169682
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF07690 MFS_1 65 → 433 Major Facilitator Superfamily Family
Sequence
Sequence length 528
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (129)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 18056335, 24890221, 25835180, 27486861, 29326164, 30300664
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16175382
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 30169711
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 30784173
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 28466382
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31455413 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis CTD_human_DG 11796754
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis CTD_human_DG 11796754
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis CTD_human_DG 11796754
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 30241549, 31601917
★★★★★
★☆☆☆☆
Found in Text Mining only