TSPAN7: Difference between revisions
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{{ | '''Tetraspanin-7''' is a [[protein]] that in humans is encoded by the ''TSPAN7'' [[gene]].<ref name="pmid12070254">{{cite journal |vauthors=Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE | title = A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58 | journal = J Med Genet | volume = 39 | issue = 6 | pages = 430–3 |date=Jun 2002 | pmid = 12070254 | pmc = 1735161 | doi =10.1136/jmg.39.6.430 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TSPAN7 tetraspanin 7| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7102| accessdate = }}</ref> | ||
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| summary_text = 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.<ref name="entrez">{{cite | | summary_text = 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]].<ref name="entrez"/> More recently, it has been identified as a key immune system target in type 1 diabetes.<ref name="Diabetes">{{cite journal|last1=McLaughlin|first1=KA|last2=Richardson|first2=CC|title=Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes|journal=Diabetes|date=16 March 2016|doi=10.2337/db15-1058|pmid=26953162|volume=65|pages=1690–8}}</ref> | ||
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==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
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| citations = | | citations = | ||
*{{cite journal | | *{{cite journal |vauthors=Castellví-Bel S, Milà M |title=Genes responsible for nonspecific mental retardation |journal=Mol. Genet. Metab. |volume=72 |issue= 2 |pages= 104–8 |year= 2001 |pmid= 11161835 |doi= 10.1006/mgme.2000.3128 }} | ||
*{{cite journal | author=Berditchevski F |title=Complexes of tetraspanins with integrins: more than meets the eye | *{{cite journal | author=Berditchevski F |title=Complexes of tetraspanins with integrins: more than meets the eye |journal=J. Cell Sci. |volume=114 |issue= Pt 23 |pages= 4143–51 |year= 2002 |pmid= 11739647 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Takagi S, Fujikawa K, Imai T, etal |title=Identification of a highly specific surface marker of T-cell acute lymphoblastic leukemia and neuroblastoma as a new member of the transmembrane 4 superfamily |journal=Int. J. Cancer |volume=61 |issue= 5 |pages= 706–15 |year= 1995 |pmid= 7768645 |doi=10.1002/ijc.2910610519 }} | ||
*{{cite journal | *{{cite journal |vauthors=Virtaneva KI, Emi N, Marken JS, etal |title=Chromosomal localization of three human genes coding for A15, L6, and S5.7 (TAPA1): all members of the transmembrane 4 superfamily of proteins |journal=Immunogenetics |volume=39 |issue= 5 |pages= 329–34 |year= 1994 |pmid= 8168850 |doi=10.1007/BF00189229 }} | ||
*{{cite journal | *{{cite journal |vauthors=Li SH, McInnis MG, Margolis RL, etal |title=Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms |journal=Genomics |volume=16 |issue= 3 |pages= 572–9 |year= 1993 |pmid= 8325628 |doi= 10.1006/geno.1993.1232 }} | ||
*{{cite journal | *{{cite journal |vauthors=Emi N, Kitaori K, Seto M, etal |title=Isolation of a novel cDNA clone showing marked similarity to ME491/CD63 superfamily |journal=Immunogenetics |volume=37 |issue= 3 |pages= 193–8 |year= 1993 |pmid= 8420826 |doi=10.1007/BF00191884 }} | ||
*{{cite journal | *{{cite journal |vauthors=Serru V, Le Naour F, Billard M, etal |title=Selective tetraspan-integrin complexes (CD81/alpha4beta1, CD151/alpha3beta1, CD151/alpha6beta1) under conditions disrupting tetraspan interactions |journal=Biochem. J. |volume=340 |issue= Pt 1|pages= 103–11 |year= 1999 |pmid= 10229664 |doi=10.1042/0264-6021:3400103 | pmc=1220227 }} | ||
*{{cite journal | *{{cite journal |vauthors=Holinski-Feder E, Chahrockh-Zadeh S, Rittinger O, etal |title=Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region |journal=Am. J. Med. Genet. |volume=86 |issue= 2 |pages= 102–6 |year= 1999 |pmid= 10449641 |doi=10.1002/(SICI)1096-8628(19990910)86:2<102::AID-AJMG2>3.0.CO;2-C }} | ||
*{{cite journal | *{{cite journal |vauthors=Hosokawa Y, Ueyama E, Morikawa Y, etal |title=Molecular cloning of a cDNA encoding mouse A15, a member of the transmembrane 4 superfamily, and its preferential expression in brain neurons |journal=Neurosci. Res. |volume=35 |issue= 4 |pages= 281–90 |year= 2000 |pmid= 10617319 |doi=10.1016/S0168-0102(99)00093-0 }} | ||
*{{cite journal | *{{cite journal |vauthors=Zemni R, Bienvenu T, Vinet MC, etal |title=A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation |journal=Nat. Genet. |volume=24 |issue= 2 |pages= 167–70 |year= 2000 |pmid= 10655063 |doi= 10.1038/72829 }} | ||
*{{cite journal | *{{cite journal |vauthors=Domínguez-Jiménez C, Yáñez-Mó M, Carreira A, etal |title=Involvement of alpha3 integrin/tetraspanin complexes in the angiogenic response induced by angiotensin II |journal=FASEB J. |volume=15 |issue= 8 |pages= 1457–9 |year= 2001 |pmid= 11387256 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }} | ||
*{{cite journal |vauthors=Kitano T, Schwarz C, Nickel B, Pääbo S |title=Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees |journal=Mol. Biol. Evol. |volume=20 |issue= 8 |pages= 1281–9 |year= 2004 |pmid= 12777533 |doi= 10.1093/molbev/msg134 }} | |||
*{{cite journal | | *{{cite journal |vauthors=Maranduba CM, Sá Moreira E, Müller Orabona G, etal |title=Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? |journal=Am. J. Med. Genet. A |volume=124 |issue= 4 |pages= 413–5 |year= 2004 |pmid= 14735593 |doi= 10.1002/ajmg.a.20401 }} | ||
*{{cite journal | *{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }} | ||
*{{cite journal | *{{cite journal |vauthors=Ewing RM, Chu P, Elisma F, etal |title=Large-scale mapping of human protein–protein interactions by mass spectrometry |journal=Mol. Syst. Biol. |volume=3 |issue= 1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 | pmc=1847948 }} | ||
*{{cite journal | *{{cite journal |vauthors=McLaughlin KA, Richardson CC, Ravishankar A, etal |title=Identification of Tetraspanin-7 as a Target of Autoantibodies in Type 1 Diabetes |journal=Diabetes |volume= 65|issue= |pages= 1690–8|year= 2007 |pmid= 26953162 |doi= 10.2337/db15-1058 }} | ||
}} | }} | ||
{{refend}} | {{refend}} | ||
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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
- ↑ 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.
- ↑ 2.0 2.1 "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: 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. 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.
- 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.
- 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.
- 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.
- 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.
- 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. PMID 11387256.
- 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. 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.
- 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: 1690–8. doi:10.2337/db15-1058. PMID 26953162.
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