TSPAN7
Tetraspanin-7 is a protein that in humans is encoded by the TSPAN7 gene.[5][6]
| TSPAN7 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | TSPAN7, A15, CCG-B7, CD231, DXS1692E, MRX58, MXS1, TALLA-1, TM4SF2, TM4SF2b, tetraspanin 7, XLID58 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 300096 MGI: 1298407 HomoloGene: 20967 GeneCards: TSPAN7 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[6] More recently, it has been identified as a key immune system target in type 1 diabetes.[7]
References
- GRCh38: Ensembl release 89: ENSG00000156298 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000058254 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE (Jun 2002). "A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58". J Med Genet. 39 (6): 430–3. doi:10.1136/jmg.39.6.430. PMC 1735161. PMID 12070254.
- "Entrez Gene: TSPAN7 tetraspanin 7".
- 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
- Castellví-Bel S, Milà M (2001). "Genes responsible for nonspecific mental retardation". Mol. Genet. Metab. 72 (2): 104–8. 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.
- Takagi S, Fujikawa K, Imai T, et al. (1995). "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. doi:10.1002/ijc.2910610519. PMID 7768645. S2CID 20745142.
- Virtaneva KI, Emi N, Marken JS, et al. (1994). "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. doi:10.1007/BF00189229. PMID 8168850. S2CID 22971645.
- Li SH, McInnis MG, Margolis RL, et al. (1993). "Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms". Genomics. 16 (3): 572–9. doi:10.1006/geno.1993.1232. PMID 8325628.
- Emi N, Kitaori K, Seto M, et al. (1993). "Isolation of a novel cDNA clone showing marked similarity to ME491/CD63 superfamily". Immunogenetics. 37 (3): 193–8. doi:10.1007/BF00191884. PMID 8420826. S2CID 20116250.
- Serru V, Le Naour F, Billard M, et al. (1999). "Selective tetraspan-integrin complexes (CD81/alpha4beta1, CD151/alpha3beta1, CD151/alpha6beta1) under conditions disrupting tetraspan interactions". Biochem. J. 340 (Pt 1): 103–11. doi:10.1042/0264-6021:3400103. PMC 1220227. PMID 10229664.
- Holinski-Feder E, Chahrockh-Zadeh S, Rittinger O, et al. (1999). "Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region". Am. J. Med. Genet. 86 (2): 102–6. doi:10.1002/(SICI)1096-8628(19990910)86:2<102::AID-AJMG2>3.0.CO;2-C. PMID 10449641.
- Hosokawa Y, Ueyama E, Morikawa Y, et al. (2000). "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. doi:10.1016/S0168-0102(99)00093-0. PMID 10617319. S2CID 37549217.
- Zemni R, Bienvenu T, Vinet MC, et al. (2000). "A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation". Nat. Genet. 24 (2): 167–70. doi:10.1038/72829. PMID 10655063. S2CID 23569622.
- Domínguez-Jiménez C, Yáñez-Mó M, Carreira A, et al. (2001). "Involvement of alpha3 integrin/tetraspanin complexes in the angiogenic response induced by angiotensin II". FASEB J. 15 (8): 1457–9. doi:10.1096/fj.00-0651fje. PMID 11387256. S2CID 24996574.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Kitano T, Schwarz C, Nickel B, Pääbo S (2004). "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees". Mol. Biol. Evol. 20 (8): 1281–9. doi:10.1093/molbev/msg134. PMID 12777533.
- Maranduba CM, Sá Moreira E, Müller Orabona G, et al. (2004). "Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?". Am. J. Med. Genet. A. 124 (4): 413–5. doi:10.1002/ajmg.a.20401. PMID 14735593. S2CID 33539823.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
- McLaughlin KA, Richardson CC, Ravishankar A, et al. (2007). "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.
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