Gene Gene information from NCBI Gene database.
Entrez ID 9399
Gene name Stomatin like 1
Gene symbol STOML1
Synonyms (NCBI Gene)
SLP-1STORPhUNC-24
Chromosome 15
Chromosome location 15q24.1
miRNA miRNA information provided by mirtarbase database.
137
miRTarBase ID miRNA Experiments Reference
MIRT669823 hsa-miR-125a-3p HITS-CLIP 23824327
MIRT669822 hsa-miR-764 HITS-CLIP 23824327
MIRT669821 hsa-miR-3934-5p HITS-CLIP 23824327
MIRT669820 hsa-miR-6747-3p HITS-CLIP 23824327
MIRT669819 hsa-miR-1234-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19696025, 23082202
GO:0005768 Component Endosome IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0006869 Process Lipid transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608326 14560 ENSG00000067221
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBI4
Protein name Stomatin-like protein 1 (SLP-1) (EPB72-like protein 1) (Protein unc-24 homolog) (Stomatin-related protein) (STORP)
Protein function May play a role in cholesterol transfer to late endosomes (PubMed:19696025). May play a role in modulating membrane acid-sensing ion channels. Can specifically inhibit proton-gated current of ASIC1 isoform 1. Can increase inactivation speed of A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01145 Band_7 80 228 SPFH domain / Band 7 family Family
PF02036 SCP2 291 395 SCP-2 sterol transfer family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed at low levels. Expression is highest in brain. {ECO:0000269|PubMed:10997330, ECO:0000269|PubMed:9931417}.
Sequence
Sequence length 398
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SAPHO SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autistic Disorder Autism Pubtator 11121177 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30950057
★☆☆☆☆
Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked Bulbospinal Atrophy, X-Linked BEFREE 27179633
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 19034969 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease GWASCAT_DG 29212778
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast Breast Cancer BEFREE 30950057
★☆☆☆☆
Found in Text Mining only
Mucocutaneous Lymph Node Syndrome Kawasaki disease BEFREE 27179633
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 12051873
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 24007313 Associate
★☆☆☆☆
Found in Text Mining only