TSPAN1 (tetraspanin 1)

2008-01-01 David Murray , Peter Doran Affiliation

UCD School of Medicine, Medical Sciences, UCD-Mater Clinical Research Centre, Mater Misericordiae University Hospital, Dublin 7, Ireland

Identity

HGNC

TSPAN1

LOCATION

1p34.1

LOCUSID

10103

ALIAS

NET1,TM4C,TM4SF

FUSION GENES

Show Gene Fusions

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.

Proteins

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 name

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 name

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.

Bibliography

Pubmed ID	Last Year	Title	Authors
17913940	2007	Association of NET-1 gene expression with human hepatocellular carcinoma.	Chen L et al
12115476	2002	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 et al

Other Information

Locus ID:

NCBI: 10103
MIM: 613170
HGNC: 20657
Ensembl: ENSG00000117472

Variants:

dbSNP: 10103
ClinVar: 10103
TCGA: ENSG00000117472
COSMIC: TSPAN1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000117472	ENST00000372003	O60635

Expression (GTEx)

100

150

200

250

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19139842	2009	Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study.	48
25301729	2014	MicroRNA-638 inhibits cell proliferation, invasion and regulates cell cycle by targeting tetraspanin 1 in human colorectal carcinoma.	42
18822690	2008	Clinicopathological significance of overexpression of TSPAN1, Ki67 and CD34 in gastric carcinoma.	22
17913940	2007	Association of NET-1 gene expression with human hepatocellular carcinoma.	17
19017553	2009	Tspan-1 is a tetraspanin preferentially expressed by mucinous and endometrioid subtypes of human ovarian carcinomas.	14
20680643	2011	Identification of metastasis-associated breast cancer genes using a high-resolution whole genome profiling approach.	14
23754316	2013	Tetraspanin 1 promotes invasiveness of cervical cancer cells.	14
21302622	2010	Suppression of TSPAN1 by RNA interference inhibits proliferation and invasion of colon cancer cells in vitro.	13
23938385	2013	MiR-200a enhances the migrations of A549 and SK-MES-1 cells by regulating the expression of TSPAN1.	13
26054975	2015	TSPAN1 functions as an oncogene in gastric cancer and is downregulated by miR-573.	13

Citation

David Murray ; Peter Doran

TSPAN1 (tetraspanin 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-01-01

Online version: http://atlasgeneticsoncology.org/gene/44178/tspan1-(tetraspanin-1)