Biology:TSPAN7
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Tetraspanin-7 is a protein that in humans is encoded by the TSPAN7 gene.[1][2]
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. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked mental retardation and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy.[2] More recently, it has been identified as a key immune system target in type 1 diabetes.[3]
References
- ↑ "A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58". J Med Genet 39 (6): 430–3. Jun 2002. doi:10.1136/jmg.39.6.430. PMID 12070254.
- ↑ 2.0 2.1 "Entrez Gene: TSPAN7 tetraspanin 7". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7102.
- ↑ McLaughlin, KA; Richardson, CC (16 March 2016). "Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes". Diabetes 65 (6): 1690–8. doi:10.2337/db15-1058. PMID 26953162.
Further reading
- "Genes responsible for nonspecific mental retardation". Mol. Genet. Metab. 72 (2): 104–8. 2001. doi:10.1006/mgme.2000.3128. PMID 11161835.
- Berditchevski F (2002). "Complexes of tetraspanins with integrins: more than meets the eye". J. Cell Sci. 114 (Pt 23): 4143–51. doi:10.1242/jcs.114.23.4143. PMID 11739647.
- "Identification of a highly specific surface marker of T-cell acute lymphoblastic leukemia and neuroblastoma as a new member of the transmembrane 4 superfamily". Int. J. Cancer 61 (5): 706–15. 1995. doi:10.1002/ijc.2910610519. PMID 7768645.
- "Chromosomal localization of three human genes coding for A15, L6, and S5.7 (TAPA1): all members of the transmembrane 4 superfamily of proteins". Immunogenetics 39 (5): 329–34. 1994. doi:10.1007/BF00189229. PMID 8168850.
- "Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms". Genomics 16 (3): 572–9. 1993. doi:10.1006/geno.1993.1232. PMID 8325628.
- "Isolation of a novel cDNA clone showing marked similarity to ME491/CD63 superfamily". Immunogenetics 37 (3): 193–8. 1993. doi:10.1007/BF00191884. PMID 8420826.
- "Selective tetraspan-integrin complexes (CD81/alpha4beta1, CD151/alpha3beta1, CD151/alpha6beta1) under conditions disrupting tetraspan interactions". Biochem. J. 340 (Pt 1): 103–11. 1999. doi:10.1042/0264-6021:3400103. PMID 10229664.
- "Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region". Am. J. Med. Genet. 86 (2): 102–6. 1999. doi:10.1002/(SICI)1096-8628(19990910)86:2<102::AID-AJMG2>3.0.CO;2-C. PMID 10449641.
- "Molecular cloning of a cDNA encoding mouse A15, a member of the transmembrane 4 superfamily, and its preferential expression in brain neurons". Neurosci. Res. 35 (4): 281–90. 2000. doi:10.1016/S0168-0102(99)00093-0. PMID 10617319.
- "A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation". Nat. Genet. 24 (2): 167–70. 2000. doi:10.1038/72829. PMID 10655063.
- "Involvement of alpha3 integrin/tetraspanin complexes in the angiogenic response induced by angiotensin II". FASEB J. 15 (8): 1457–9. 2001. doi:10.1096/fj.00-0651fje. PMID 11387256.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees". Mol. Biol. Evol. 20 (8): 1281–9. 2004. doi:10.1093/molbev/msg134. PMID 12777533.
- "Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?". Am. J. Med. Genet. A 124 (4): 413–5. 2004. doi:10.1002/ajmg.a.20401. PMID 14735593.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. 2007. doi:10.1038/msb4100134. PMID 17353931.
- "Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes". Diabetes 65 (6): 1690–8. 2007. doi:10.2337/db15-1058. PMID 26953162.
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