Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TSPAN1 (tetraspanin 1)

Identity

Other names9030418M05Rik
NET-1
RP11-322N21.1
TSPAN-1
HGNC (Hugo) TSPAN1
LocusID (NCBI) 10103
Location 1p34.1
Location_base_pair Starts at 46640749 and ends at 46651634 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

Description The TSPAN1 gene is located on chromosome 1 in a 5419 bp sequence (46418799..46424217). The gene contains 10 exons.
Transcription mRNA: 1297 nucleotides in length.

Protein

Description 241 amino acids, 26.2 kDa Protein.
The 241 amino acid sequence is:
 1 mqcfsfiktm milfnllifl cgaallavgi wvsidgasfl kifgplsssa mqfvnvgyfl 
61 iaagvvvfal gflgcygakt eskcalvtff filllifiae vaaavvalvy ttmaehfltl
121 lvvpaikkdy gsqedftqvw nttmkglkcc gftnytdfed spyfkensaf ppfccndnvt
181 ntanetctkq kahdqkvegc fnqllydirt navtvggvaa gigglelaam ivsmylycnl
241 q
Expression Widely expressed.
Localisation Plasma Membrane
Function The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. These 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.
Homology Holomogy with Pan troglodytes (100%); Canis lupus familiaris (89%); Mus musculus (82%), Rattus norvegicus (82%), Gallus gallus (70%).

Mutations

Note TSPAN1 is subject to the following misense mutations :
Source ID
rs2234266
rs2234267
rs2234268
rs1047216
Wild type nucleotide
A
C
G
A
Wild type amino acid
M
S
V
K
Variant nucleotide
G
T
A
G
Variant amino acid
V
F
M
E
Amino Acid Position
0
37
86
188

Implicated in

Entity Cervical Cancer
Disease Cervical cancer is a malignant carcinoma or the cervix, typically composed of squamous cells. Most studies have found that human papillomavirus (HPV) infection is responsible for virtually all cases of cervical cancer.
Prognosis Prognosis depends on the stage of the cancer. The 5 year survival rate with treatment is 80 to 90% in patients with stage I disease and 50 to 65% in patients with stage II disease. 25 to 35% of women with stage III cancer and 15% or fewer of those with stage IV cancer are alive after 5 years. Prognosis drops dramatically with tumour metastasis. Thirty-five percent of patients with invasive cervical cancer have persistent or recurrent disease after treatment.
  
Entity Hepatocellular Carcinoma
Disease Hepatocellular Carcinoma (HCC) is a malignancy of the liver. Most cases of HCC are secondary to either a hepatitis B or C infection or cirrhosis.
Prognosis The prognosis of HCC is dependent on many factors, including tumour size, tumour staging, the involvement of liver vessels, the presence of extrahepatic metastases and the vascularisation of the tumor.
  

External links

Nomenclature
HGNC (Hugo)TSPAN1   20657
Cards
AtlasTSPAN1ID44178ch1p34
Entrez_Gene (NCBI)TSPAN1  10103  tetraspanin 1
GeneCards (Weizmann)TSPAN1
Ensembl hg19 (Hinxton)ENSG00000117472 [Gene_View]  chr1:46640749-46651634 [Contig_View]  TSPAN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000117472 [Gene_View]  chr1:46640749-46651634 [Contig_View]  TSPAN1 [Vega]
ICGC DataPortalENSG00000117472
cBioPortalTSPAN1
AceView (NCBI)TSPAN1
Genatlas (Paris)TSPAN1
WikiGenes10103
SOURCE (Princeton)TSPAN1
Genomic and cartography
GoldenPath hg19 (UCSC)TSPAN1  -     chr1:46640749-46651634 +  1p33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TSPAN1  -     1p33   [Description]    (hg38-Dec_2013)
EnsemblTSPAN1 - 1p33 [CytoView hg19]  TSPAN1 - 1p33 [CytoView hg38]
Mapping of homologs : NCBITSPAN1 [Mapview hg19]  TSPAN1 [Mapview hg38]
OMIM613170   
Gene and transcription
Genbank (Entrez)AF054838 AF065388 AF133425 AK313774 BC000695
RefSeq transcript (Entrez)NM_005727
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NT_032977 NW_001838578 NW_004929290
Consensus coding sequences : CCDS (NCBI)TSPAN1
Cluster EST : UnigeneHs.38972 [ NCBI ]
CGAP (NCI)Hs.38972
Alternative Splicing : Fast-db (Paris)GSHG0000477
Alternative Splicing GalleryENSG00000117472
Gene ExpressionTSPAN1 [ NCBI-GEO ]     TSPAN1 [ SEEK ]   TSPAN1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60635 (Uniprot)
NextProtO60635  [Medical]
With graphics : InterProO60635
Splice isoforms : SwissVarO60635 (Swissvar)
Domaine pattern : Prosite (Expaxy)TM4_1 (PS00421)   
Domains : Interpro (EBI)Tetraspanin    Tetraspanin/Peripherin    Tetraspanin_CS    Tetraspanin_EC2   
Related proteins : CluSTrO60635
Domain families : Pfam (Sanger)Tetraspannin (PF00335)   
Domain families : Pfam (NCBI)pfam00335   
DMDM Disease mutations10103
Blocks (Seattle)O60635
Human Protein AtlasENSG00000117472
Peptide AtlasO60635
HPRD18232
IPIIPI00030936   
Protein Interaction databases
DIP (DOE-UCLA)O60635
IntAct (EBI)O60635
FunCoupENSG00000117472
BioGRIDTSPAN1
IntegromeDBTSPAN1
STRING (EMBL)TSPAN1
Ontologies - Pathways
QuickGOO60635
Ontology : AmiGOprotein binding  cytoplasm  lysosomal membrane  plasma membrane  cell proliferation  thiamine uptake transmembrane transporter activity  membrane  integral component of membrane  cell migration  vesicle  positive regulation of endocytosis  perinuclear region of cytoplasm  protein stabilization  extracellular vesicular exosome  thiamine transmembrane transport  
Ontology : EGO-EBIprotein binding  cytoplasm  lysosomal membrane  plasma membrane  cell proliferation  thiamine uptake transmembrane transporter activity  membrane  integral component of membrane  cell migration  vesicle  positive regulation of endocytosis  perinuclear region of cytoplasm  protein stabilization  extracellular vesicular exosome  thiamine transmembrane transport  
Protein Interaction DatabaseTSPAN1
DoCM (Curated mutations)TSPAN1
Wikipedia pathwaysTSPAN1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerTSPAN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TSPAN1
dbVarTSPAN1
ClinVarTSPAN1
1000_GenomesTSPAN1 
Exome Variant ServerTSPAN1
SNP (GeneSNP Utah)TSPAN1
SNP : HGBaseTSPAN1
Genetic variants : HAPMAPTSPAN1
Genomic VariantsTSPAN1  TSPAN1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000117472 
Somatic Mutations in Cancer : COSMICTSPAN1 
CONAN: Copy Number AnalysisTSPAN1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:46640749-46651634
Mutations and Diseases : HGMDTSPAN1
OMIM613170   
MedgenTSPAN1
NextProtO60635 [Medical]
GENETestsTSPAN1
Disease Genetic AssociationTSPAN1
Huge Navigator TSPAN1 [HugePedia]  TSPAN1 [HugeCancerGEM]
snp3D : Map Gene to Disease10103
DGIdb (Drug Gene Interaction db)TSPAN1
General knowledge
Homologs : HomoloGeneTSPAN1
Homology/Alignments : Family Browser (UCSC)TSPAN1
Phylogenetic Trees/Animal Genes : TreeFamTSPAN1
Chemical/Protein Interactions : CTD10103
Chemical/Pharm GKB GenePA134938100
Clinical trialTSPAN1
Cancer Resource (Charite)ENSG00000117472
Other databases
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
CoreMineTSPAN1
GoPubMedTSPAN1
iHOPTSPAN1

Bibliography

Identification of a new proliferation-associated protein NET-1/C4.8 characteristic for a subset of high-grade cervical intraepithelial neoplasia and cervical carcinomas.
Wollscheid V, Kł║hne-Heid R, Stein I, Jansen L, KłĆllner S, Schneider A, Dł║rst M
International journal of cancer. Journal international du cancer. 2002 ; 99 (6) : 771-775.
PMID 12115476
 
Association of NET-1 gene expression with human hepatocellular carcinoma.
Chen L, Wang Z, Zhan X, Li DC, Zhu YY, Zhu J
International journal of surgical pathology. 2007 ; 15 (4) : 346-353.
PMID 17913940
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written01-2008David Murray, Peter Doran
UCD School of Medicine and Medical Sciences, UCD-Mater Clinical Research Centre, Mater Misericordiae University Hospital, Dublin 7, Ireland

Citation

This paper should be referenced as such :
Murray, D ; Doran, P
TSPAN1 (tetraspanin 1)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(5):391-392.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/TSPAN1ID44178ch1p34.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 02:35:38 CET 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.