TGM6

TGM6
Identifiers
Aliases TGM6, SCA35, TG6, TGM3L, TGY, dJ734P14.3, transglutaminase 6
External IDs MGI: 3044321 HomoloGene: 27970 GeneCards: TGM6
Genetically Related Diseases
Alzheimer's disease[1]
Orthologs
Species Human Mouse
Entrez

343641

241636

Ensembl

ENSG00000166948

ENSMUSG00000027403

UniProt

O95932

n/a

RefSeq (mRNA)

NM_198994
NM_001254734

NM_001289747
NM_001289748
NM_001289749
NM_177726

RefSeq (protein)

NP_001241663.1
NP_945345.2

n/a

Location (UCSC) Chr 20: 2.38 – 2.43 Mb Chr 2: 130.11 – 130.15 Mb
PubMed search [2] [3]
Wikidata
View/Edit HumanView/Edit Mouse

Transglutaminase 6 is a protein that in humans is encoded by the TGM6 gene. [4]

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 .[5]

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.[6] Male and female animals underwent a standardized phenotypic screen[7] to determine the effects of deletion.[8][9][10][11] Additional screens performed: - In-depth immunological phenotyping[12]

References

  1. ↑ "Diseases that are genetically associated with TGM6 view/edit references on wikidata".
  2. ↑ "Human PubMed Reference:".
  3. ↑ "Mouse PubMed Reference:".
  4. ↑ "Entrez Gene: Transglutaminase 6". Retrieved 2014-04-29.
  5. ↑ 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.
  6. ↑ 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.
  7. 1 2 "International Mouse Phenotyping Consortium".
  8. ↑ 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 3572410Freely accessible. PMID 21677750.
  9. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  10. ↑ 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.
  11. ↑ 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 3717207Freely accessible. PMID 23870131.
  12. 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 3535377Freely accessible. 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 3760995Freely accessible. 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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