TGM6

Transglutaminase 6
Identifiers
Symbols TGM6 ; SCA35; TG6; TGM3L; TGY; dJ734P14.3
External IDs OMIM: 613900 HomoloGene: 27970 GeneCards: TGM6 Gene
EC number 2.3.2.13
Orthologs
Species Human Mouse
Entrez 343641 241636
Ensembl ENSG00000166948 ENSMUSG00000027403
UniProt O95932 n/a
RefSeq (mRNA) NM_001254734 NM_001289747
RefSeq (protein) NP_001241663 NP_001276676
Location (UCSC) Chr 20:
2.38 – 2.43 Mb		 Chr 2:
130.11 – 130.15 Mb
PubMed search

Transglutaminase 6 is a protein that in humans is encoded by the TGM6 gene. [1]

Function

The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011].

Mutations in TGM6 cause acute myeloid leukaemia .[2]

Model organisms

Model organisms have been used in the study of TGM6 function. A conditional knockout mouse line called Tgm6tm1a(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute.[3] Male and female animals underwent a standardized phenotypic screen[4] to determine the effects of deletion.[5][6][7][8] Additional screens performed: - In-depth immunological phenotyping[9]

References

  1. ↑ "Entrez Gene: Transglutaminase 6". Retrieved 2014-04-29.
  2. ↑ Pan LL, Huang YM, Wang M, Zhuang XE, Luo DF, Guo SC, Zhang ZS, Huang Q, Lin SL, Wang SY (Feb 2015). "Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia". European Journal of Human Genetics 23 (2): 218–23. doi:10.1038/ejhg.2014.67. PMID 24755948.
  3. ↑ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  4. 1 2 "International Mouse Phenotyping Consortium".
  5. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  6. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  7. ↑ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  8. ↑ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  9. 1 2 "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading

  • Lindfors K, Koskinen O, Laurila K, Collin P, Saavalainen P, Haimila K, Partanen J, Mäki M, Kaukinen K (Jun 2011). "IgA-class autoantibodies against neuronal transglutaminase, TG6 in celiac disease: no evidence for gluten dependency". Clinica Chimica Acta; International Journal of Clinical Chemistry 412 (13-14): 1187–90. doi:10.1016/j.cca.2010.09.042. PMID 21453693. 
  • Thomas H, Beck K, Adamczyk M, Aeschlimann P, Langley M, Oita RC, Thiebach L, Hils M, Aeschlimann D (Jan 2013). "Transglutaminase 6: a protein associated with central nervous system development and motor function". Amino Acids 44 (1): 161–77. doi:10.1007/s00726-011-1091-z. PMC 3535377. PMID 21984379. 
  • Sherva R, Tripodis Y, Bennett DA, Chibnik LB, Crane PK, de Jager PL, Farrer LA, Saykin AJ, Shulman JM, Naj A, Green RC (Jan 2014). "Genome-wide association study of the rate of cognitive decline in Alzheimer's disease". Alzheimer's & Dementia 10 (1): 45–52. doi:10.1016/j.jalz.2013.01.008. PMC 3760995. PMID 23535033. 
  • Grenard P, Bates MK, Aeschlimann D (Aug 2001). "Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z". The Journal of Biological Chemistry 276 (35): 33066–78. doi:10.1074/jbc.M102553200. PMID 11390390. 
  • Hadjivassiliou M, Aeschlimann P, Strigun A, Sanders DS, Woodroofe N, Aeschlimann D (Sep 2008). "Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase". Annals of Neurology 64 (3): 332–43. doi:10.1002/ana.21450. PMID 18825674. 
  • Stamnaes J, Dorum S, Fleckenstein B, Aeschlimann D, Sollid LM (Nov 2010). "Gluten T cell epitope targeting by TG3 and TG6; implications for dermatitis herpetiformis and gluten ataxia". Amino Acids 39 (5): 1183–91. doi:10.1007/s00726-010-0554-y. PMID 20300788. 
  • Guan WJ, Wang JL, Liu YT, Ma YT, Zhou Y, Jiang H, Shen L, Guo JF, Xia K, Li JD, Tang BS (Jan 2013). "Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis". Biochemical and Biophysical Research Communications 430 (2): 780–6. doi:10.1016/j.bbrc.2012.11.069. PMID 23206699. 
  • Scavenius C, Sanggaard KW, Nikolajsen CL, Bak S, Valnickova Z, Thøgersen IB, Jensen ON, Højrup P, Enghild JJ (Dec 2011). "Human inter-α-inhibitor is a substrate for factor XIIIa and tissue transglutaminase". Biochimica et Biophysica Acta 1814 (12): 1624–30. doi:10.1016/j.bbapap.2011.08.017. PMID 21939789. 
  • Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS (Dec 2010). "TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing". Brain 133 (Pt 12): 3510–8. doi:10.1093/brain/awq323. PMID 21106500. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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