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 signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provide... See more...

Aliases for TSPAN1 Gene

Aliases for TSPAN1 Gene

  • Tetraspanin 1 2 3 5
  • Tetraspanin-1 3 4
  • Tetraspanin TM4-C 4
  • Tetraspan NET-1 4
  • Tetraspan 1 3
  • Tspan-1 4
  • TM4SF 3
  • NET1 3
  • TM4C 3

External Ids for TSPAN1 Gene

Previous GeneCards Identifiers for TSPAN1 Gene

  • GC01P046360
  • GC01P046640
  • GC01P044755

Summaries for TSPAN1 Gene

Entrez Gene Summary for TSPAN1 Gene

  • 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 signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]

GeneCards Summary for TSPAN1 Gene

TSPAN1 (Tetraspanin 1) is a Protein Coding gene. Diseases associated with TSPAN1 include Retinitis Pigmentosa 76 and Muscle Eye Brain Disease. An important paralog of this gene is TSPAN18.

Additional gene information for TSPAN1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSPAN1 Gene

Genomics for TSPAN1 Gene

GeneHancer (GH) Regulatory Elements for TSPAN1 Gene

Promoters and enhancers for TSPAN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J046178 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.4 +7.4 7412 7 ZNF217 CTCF SIN3A POLR2G BCLAF1 JUND PHB2 FOS ZFX ZNF639 TSPAN1 ENSG00000234329 EFCAB14-AS1 GPBP1L1 LRRC41 LURAP1 TOE1 RPS15AP10 CCDC163 CCDC17
GH01J046170 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 500.7 -1.7 -1745 5 ZNF217 EP300 ZSCAN5C ZNF300 ZNF639 ZBTB10 CLOCK TRIM28 REST CTBP1 TSPAN1 NASP LRRC41 TOE1 NSUN4 MUTYH TEX38 LURAP1 ENSG00000234329 RPS15AP10
GH01J046176 Promoter 0.4 EPDnew 500.7 +1.4 1435 0.1 PRDM10 PIK3R3 P3R3URF P3R3URF-PIK3R3 TSPAN1 lnc-POMGNT1-1 lnc-PIK3R3-3
GH01J046177 Enhancer 0.3 Ensembl 500.7 +1.2 1228 0.2 PRDM10 PIK3R3 P3R3URF P3R3URF-PIK3R3 TSPAN1 lnc-POMGNT1-1
GH01J046196 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 +23.2 23173 2.8 HNRNPK CTCF POLR2G NCOR1 PHF8 ZFX POLR2A ZNF623 AFF1 ZBTB26 POMGNT1 LURAP1 P3R3URF PIK3R3 TSPAN1 RAD54L TOE1 MUTYH ZSWIM5 lnc-PIK3R3-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSPAN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TSPAN1

Top Transcription factor binding sites by QIAGEN in the TSPAN1 gene promoter:
  • AML1a
  • Bach1
  • E47
  • GATA-2
  • Hand1
  • HNF-4alpha1
  • HNF-4alpha2
  • Roaz

Genomic Locations for TSPAN1 Gene

Genomic Locations for TSPAN1 Gene
chr1:46,175,073-46,196,489
(GRCh38/hg38)
Size:
21,417 bases
Orientation:
Plus strand
chr1:46,640,745-46,651,634
(GRCh37/hg19)
Size:
10,890 bases
Orientation:
Plus strand

Genomic View for TSPAN1 Gene

Genes around TSPAN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSPAN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSPAN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSPAN1 Gene

Proteins for TSPAN1 Gene

  • Protein details for TSPAN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60635-TSN1_HUMAN
    Recommended name:
    Tetraspanin-1
    Protein Accession:
    O60635
    Secondary Accessions:
    • D3DQ14
    • O60745
    • Q5VST0

    Protein attributes for TSPAN1 Gene

    Size:
    241 amino acids
    Molecular mass:
    26301 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TSPAN1 Gene

Post-translational modifications for TSPAN1 Gene

  • Glycosylation at Asn141, Asn154, Asn178, and Asn184
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for TSPAN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TSPAN1 Gene

Domains & Families for TSPAN1 Gene

Gene Families for TSPAN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TSPAN1 Gene

Blocks:
  • Transmembrane four family signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TSPAN1 Gene

GenScript: Design optimal peptide antigens:
  • Tetraspanin TM4-C (TSN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60635

UniProtKB/Swiss-Prot:

TSN1_HUMAN :
  • Belongs to the tetraspanin (TM4SF) family.
Family:
  • Belongs to the tetraspanin (TM4SF) family.
genes like me logo Genes that share domains with TSPAN1: view

Function for TSPAN1 Gene

Phenotypes From GWAS Catalog for TSPAN1 Gene

Gene Ontology (GO) - Molecular Function for TSPAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21836059
genes like me logo Genes that share ontologies with TSPAN1: view
genes like me logo Genes that share phenotypes with TSPAN1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TSPAN1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSPAN1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TSPAN1 Gene

Localization for TSPAN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSPAN1 Gene

Lysosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSPAN1 gene
Compartment Confidence
plasma membrane 5
nucleus 4
lysosome 3
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TSPAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 12115476
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005886 plasma membrane IDA 21836059
genes like me logo Genes that share ontologies with TSPAN1: view

Pathways & Interactions for TSPAN1 Gene

PathCards logo

SuperPathways for TSPAN1 Gene

No Data Available

Interacting Proteins for TSPAN1 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 20)
STRING Interaction Network
Selected Interacting proteins: ENSP00000361072 O60635-TSN1_HUMAN for TSPAN1 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for TSPAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008283 cell proliferation IDA 22378020
GO:0016477 cell migration IMP 22378020
GO:0045807 positive regulation of endocytosis IMP 22378020
GO:0050821 protein stabilization IDA 21836059
genes like me logo Genes that share ontologies with TSPAN1: view

No data available for Pathways by source and SIGNOR curated interactions for TSPAN1 Gene

Drugs & Compounds for TSPAN1 Gene

No Compound Related Data Available

Transcripts for TSPAN1 Gene

mRNA/cDNA for TSPAN1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSPAN1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSPAN1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d
SP1: - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - -
SP5: -
SP6: - - - - - - - - - -
SP7: - - - -
SP8: - -
SP9: - - - -
SP10: -
SP11:

Relevant External Links for TSPAN1 Gene

GeneLoc Exon Structure for
TSPAN1

Expression for TSPAN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TSPAN1 Gene

mRNA differential expression in normal tissues according to GTEx for TSPAN1 Gene

This gene is overexpressed in Colon - Transverse (x17.4) and Kidney - Cortex (x10.6).

Protein differential expression in normal tissues from HIPED for TSPAN1 Gene

This gene is overexpressed in Urine (35.9) and Cervix (22.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TSPAN1 Gene



Protein tissue co-expression partners for TSPAN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TSPAN1

SOURCE GeneReport for Unigene cluster for TSPAN1 Gene:

Hs.38972

Evidence on tissue expression from TISSUES for TSPAN1 Gene

  • Intestine(4.9)
  • Stomach(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with TSPAN1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TSPAN1 Gene

Orthologs for TSPAN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSPAN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSPAN1 31 30
  • 99.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TSPAN1 31 30
  • 86.31 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TSPAN1 31 30
  • 84.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tspan1 17 31 30
  • 80.56 (n)
rat
(Rattus norvegicus)
Mammalia Tspan1 30
  • 79.53 (n)
oppossum
(Monodelphis domestica)
Mammalia TSPAN1 31
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TSPAN1 31
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves TSPAN1 31 30
  • 66.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSPAN1 31
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tspan1 30
  • 62.34 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24793 30
zebrafish
(Danio rerio)
Actinopterygii zgc:64085 30
  • 58.63 (n)
TSPAN1 31
  • 47 (a)
OneToOne
-- 30
fruit fly
(Drosophila melanogaster)
Insecta Tsp66E 31
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tsp-11 31
  • 19 (a)
ManyToMany
tsp-13 31
  • 12 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10827 31
  • 35 (a)
ManyToMany
CSA.8143 31
  • 33 (a)
ManyToMany
CSA.5127 31
  • 33 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
Species where no ortholog for TSPAN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TSPAN1 Gene

ENSEMBL:
Gene Tree for TSPAN1 (if available)
TreeFam:
Gene Tree for TSPAN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TSPAN1: view image

Paralogs for TSPAN1 Gene

(12) SIMAP similar genes for TSPAN1 Gene using alignment to 1 proteins:

  • TSN1_HUMAN
genes like me logo Genes that share paralogs with TSPAN1: view

Variants for TSPAN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TSPAN1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
638451 Uncertain Significance: POMGNT1-Related Disorders 46,192,950(+) C/A MISSENSE_VARIANT
642934 Likely Pathogenic: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 46,194,843(+) C/A SPLICE_DONOR_VARIANT
643942 Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 46,189,477(+) C/T MISSENSE_VARIANT,INTRON_VARIANT
644042 Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 46,192,913(+) C/G MISSENSE_VARIANT
644389 Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 46,194,870(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TSPAN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TSPAN1 Gene

Variant ID Type Subtype PubMed ID
esv2761743 CNV gain 21179565
nsv527878 CNV gain 19592680
nsv822520 CNV loss 20364138

Variation tolerance for TSPAN1 Gene

Residual Variation Intolerance Score: 68.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSPAN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSPAN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSPAN1 Gene

Disorders for TSPAN1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TSPAN1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 76
  • rp76
muscle eye brain disease
  • meb
muscular dystrophy-dystroglycanopathy
  • cmd due to dystroglycanopathy
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TSPAN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TSPAN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TSPAN1 Gene

Publications for TSPAN1 Gene

  1. Sequences and expression of six new members of the tetraspanin/TM4SF family. (PMID: 9714763) Todd SC … Levy S (Biochimica et biophysica acta 1998) 2 3 4 54
  2. Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study. (PMID: 19139842) Lin X … Mooser V (Diabetologia 2009) 3 41 54
  3. Glycosylation of tetraspanin Tspan-1 at four distinct sites promotes its transition through the endoplasmic reticulum. (PMID: 19508227) Scholz CJ … Deissler H (Protein and peptide letters 2009) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Sequence and expression of seven new tetraspans. (PMID: 10719184) Serru V … Rubinstein E (Biochimica et biophysica acta 2000) 2 3 54

Products for TSPAN1 Gene

Sources for TSPAN1 Gene