Gene Gene information from NCBI Gene database.
Entrez ID 10103
Gene name Tetraspanin 1
Gene symbol TSPAN1
Synonyms (NCBI Gene)
NET1TM4CTM4SF
Chromosome 1
Chromosome location 1p34.1
Summary The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate
miRNA miRNA information provided by mirtarbase database.
362
miRTarBase ID miRNA Experiments Reference
MIRT438319 hsa-miR-573 FlowImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 26054975
MIRT438319 hsa-miR-573 FlowImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 26054975
MIRT438319 hsa-miR-573 FlowImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 26054975
MIRT438319 hsa-miR-573 FlowImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 26054975
MIRT722958 hsa-miR-651-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21836059, 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA 12115476
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613170 20657 ENSG00000117472
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60635
Protein name Tetraspanin-1 (Tspan-1) (Tetraspan NET-1) (Tetraspanin TM4-C)
Protein function Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Participates thereby in diverse biological functions such as cell signal
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00335 Tetraspanin 7 239 Tetraspanin family Family
Sequence
Sequence length 241
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma Associate 19437569
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Associate 20543560
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Inhibit 20680643
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Inhibit 20680643
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 34215221
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 20890423, 38206300
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Associate 31731384, 35180880
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Associate 35741813
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Associate 19437569, 30066932
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 19437569
★☆☆☆☆
Found in Text Mining only