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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.


RefSeq Accession Definition Services Price Order
NM_000359 Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA. ORF Sequence $711.66
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Antibody Services
Protein Services


RefSeq Version NM_000359.2, 110611244
Length 2777 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.
Product protein-glutamine gamma-glutamyltransferase K
Comment

Summary: The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008].

RefSeq NP_000350.1
CDS 125..2578
Misc Feature(1)65..67
Misc Feature(2)125..424
Misc Feature(3)125..424
Misc Feature(4)194..196
Misc Feature(5)368..370
Misc Feature(6)377..379
Misc Feature(7)398..400
Misc Feature(8)452..808
Misc Feature(9)1235..1510
Misc Feature(10)1865..2170
Misc Feature(11)2201..2485
Exon (1)1..122
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (2)123..443
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (3)444..632
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (4)633..881
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (5)882..1000
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (6)1001..1108
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (7)1109..1283
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (8)1284..1422
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (9)1423..1526
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (10)1527..1615
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (11)1616..1769
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (12)1770..2051
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (13)2052..2212
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (14)2213..2349
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Exon (15)2350..2777
Gene:TGM1
Gene Synonym:ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Translation MMDGPRSDVGRWGGNPLQPPTTPSPEPEPEPDGRSRRGGGRSFWARCCGCCSCRNAADDD WGPEPSDSRGRGSSSGTRRPGSRGSDSRRPVSRGSGVNAAGDGTIREGMLVVNGVDLLSS RSDQNRREHHTDEYEYDELIVRRGQPFHMLLLLSRTYESSDRITLELLIGNNPEVGKGTH VIIPVGKGGSGGWKAQVVKASGQNLNLRVHTSPNAIIGKFQFTVRTQSDAGEFQLPFDPR NEIYILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIGERTWNYGQFDHGVLDA CLYILDRRGMPYGGRGDPVNVSRVISAMVNSLDDNGVLIGNWSGDYSRGTNPSAWVGSVE ILLSYLRTGYSVPYGQCWVFAGVTTTVLRCLGLATRTVTNFNSAHDTDTSLTMDIYFDEN MKPLEHLNHDSVWNFHVWNDCWMKRPDLPSGFDGWQVVDATPQETSSGIFCCGPCSVESI KNGLVYMKYDTPFIFAEVNSDKVYWQRQDDGSFKIVYVEEKAIGTLIVTKAISSNMREDI TYLYKHPEGSDAERKAVETAAAHGSKPNVYANRGSAEDVAMQVEAQDAVMGQDLMVSVML INHSSSRRTVKLHLYLSVTFYTGVSGTIFKETKKEVELAPGASDRVTMPVAYKEYRPHLV DQGAMLLNVSGHVKESGQVLAKQHTFRLRTPDLSLTLLGAAVVGQECEVQIVFKNPLPVT LTNVVFRLEGSGLQRPKILNVGDIGGNETVTLRQSFVPVRPGPRQLIASLDSPQLSQVHG VIQVDVAPAPGDGGFFSDAGGDSHLGETIPMASRGGA
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Position Chain Variation Link
complement(4)-dbSNP:
complement(4)-t, gdbSNP:41295328
complement(30)-g, adbSNP:144764474
complement(83)-g, adbSNP:8003142
complement(98)-t, cdbSNP:2748512
complement(101)-g, adbSNP:147260129
complement(145)-g, adbSNP:150913268
complement(178)-g, adbSNP:41295336
complement(184)-g, adbSNP:145812304
complement(185)-t, cdbSNP:140542428
complement(189)-g, adbSNP:201774398
complement(210)-g, adbSNP:200873762
complement(220)-g, adbSNP:151333205
complement(221)-t, cdbSNP:142455594
complement(224)-g, adbSNP:149148326
complement(230)-t, gdbSNP:145197904
complement(249)-c, adbSNP:41295338
complement(283)-t, gdbSNP:201432046
complement(284)-g, adbSNP:140000324
complement(291)-g, adbSNP:147479810
complement(292)-t, cdbSNP:79251149
complement(296)-c, adbSNP:139569235
complement(301)-t, cdbSNP:8193031
complement(327..328)-, gdbSNP:34491912
complement(332)-t, cdbSNP:150599652
complement(346)-g, adbSNP:200023674
complement(369)-g, adbSNP:141792428
complement(376)-g, adbSNP:148048398
complement(389)-g, adbSNP:146189995
complement(390)-t, cdbSNP:141492969
complement(394)-t, adbSNP:201400055
complement(405)-g, adbSNP:121918729
complement(409)-t, cdbSNP:2228336
complement(421)-g, adbSNP:41295340
complement(463)-dbSNP:
complement(463)-g, adbSNP:144651432
complement(470)-t, cdbSNP:148993226
complement(483)-g, adbSNP:138885883
complement(484)-g, adbSNP:41295444
complement(485)-g, adbSNP:80145541
complement(489)-g, adbSNP:141486741
complement(490)-t, cdbSNP:17102410
complement(501)-t, cdbSNP:200491579
complement(507)-t, cdbSNP:138592626
complement(518)-g, adbSNP:2229462
complement(521)-t, cdbSNP:141524659
complement(525)-t, cdbSNP:147916609
complement(532)-g, adbSNP:142338588
complement(533)-t, cdbSNP:149089854
complement(535)-g, adbSNP:145002586
complement(542)-t, cdbSNP:149923908
complement(544)-t, cdbSNP:139208806
complement(548)-t, cdbSNP:121918716
complement(549)-g, adbSNP:121918718
complement(552)-g, adbSNP:121918719
complement(553)-g, adbSNP:144989372
complement(556)-t, cdbSNP:141559048
complement(587)-g, adbSNP:187901859
complement(603)-g, cdbSNP:121918728
complement(608)-g, adbSNP:199894209
complement(643)-dbSNP:
complement(643)-g, adbSNP:139811103
complement(649)-t, cdbSNP:200092961
complement(664)-g, adbSNP:145981439
complement(674)-g, adbSNP:200517023
complement(703)-t, cdbSNP:199678720
complement(728)-t, cdbSNP:141685762
complement(731)-g, adbSNP:201167101
complement(756)-g, adbSNP:200894024
complement(765)-t, cdbSNP:147994543
complement(776)-g, adbSNP:121918732
complement(784)-g, adbSNP:201493499
complement(811)-g, adbSNP:143352384
complement(820)-t, cdbSNP:149605227
complement(843)-t, cdbSNP:138574046
complement(848)-t, cdbSNP:201572824
complement(850)-g, adbSNP:35755034
complement(857)-t, cdbSNP:199820979
872+g, tdbSNP:318240748
complement(895)-dbSNP:
complement(895)-g, adbSNP:141590446
complement(914)-g, adbSNP:201868387
complement(928)-g, adbSNP:200870283
complement(956)-g, adbSNP:121918725
complement(962)-t, cdbSNP:150181059
complement(981)-g, adbSNP:121918727
complement(990)-g, c, adbSNP:121918730
complement(1009)-dbSNP:
complement(1009)-g, adbSNP:186352813
complement(1043)-t, g, cdbSNP:121918731
complement(1044)-t, cdbSNP:146770534
complement(1047)-t, cdbSNP:201328637
complement(1068)-c, adbSNP:143473912
complement(1092)-g, adbSNP:121918717
complement(1167)-dbSNP:
complement(1167)-t, cdbSNP:201379408
complement(1199)-t, cdbSNP:202037016
complement(1224)-t, cdbSNP:139949065
complement(1227)-g, adbSNP:199786703
complement(1237)-g, adbSNP:61747601
complement(1238)-g, adbSNP:41293794
complement(1240)-c, adbSNP:2855005
complement(1259)-g, c, adbSNP:121918720
complement(1267)-c, adbSNP:149449576
complement(1270)-c, adbSNP:1126432
complement(1271)-g, adbSNP:121918722
complement(1290)-dbSNP:
complement(1290)-g, adbSNP:121918723
complement(1299)-g, adbSNP:121918726
complement(1311)-t, gdbSNP:121918721
complement(1340)-t, cdbSNP:200050519
complement(1378)-g, adbSNP:150739753
complement(1441)-dbSNP:
complement(1441)-g, adbSNP:141972252
complement(1468)-g, cdbSNP:2855105
complement(1498)-t, cdbSNP:199623333
complement(1527)-dbSNP:
complement(1527)-t, cdbSNP:147078520
complement(1573)-g, cdbSNP:2748528
complement(1576)-g, cdbSNP:2855109
complement(1593)-g, adbSNP:121918724
complement(1597)-t, cdbSNP:187372624
complement(1642)-dbSNP:
complement(1642)-t, cdbSNP:143320733
complement(1643)-g, adbSNP:200829531
complement(1645)-g, cdbSNP:2855110
complement(1648)-g, cdbSNP:2748529
complement(1652)-t, cdbSNP:7147300
complement(1653)-t, cdbSNP:139320583
complement(1672)-g, adbSNP:201388438
complement(1676)-g, adbSNP:35312232
complement(1683)-t, cdbSNP:142404759
complement(1777)-dbSNP:
complement(1777)-t, g, cdbSNP:2855111
complement(1827)-t, cdbSNP:150428149
complement(1851)-g, adbSNP:140363039
complement(1886)-t, cdbSNP:146728175
complement(1887)-g, adbSNP:143322085
complement(1891)-c, adbSNP:141134584
complement(1918)-t, cdbSNP:151000505
complement(1943)-t, cdbSNP:2229464
complement(2030)-t, cdbSNP:148402498
complement(2048)-g, cdbSNP:199735949
complement(2053)-dbSNP:
complement(2053)-t, cdbSNP:200959566
complement(2055)-t, cdbSNP:144489206
complement(2057)-g, adbSNP:144517528
complement(2058)-t, cdbSNP:139837741
complement(2090)-t, gdbSNP:144318024
complement(2113)-g, cdbSNP:187050700
complement(2129)-g, adbSNP:2855009
complement(2146)-t, cdbSNP:140355027
complement(2183)-g, adbSNP:147516124
complement(2203)-g, adbSNP:143175209
complement(2209)-g, cdbSNP:2855112
complement(2265)-dbSNP:
complement(2265)-t, cdbSNP:201733667
complement(2284)-g, adbSNP:139387079
complement(2297)-t, cdbSNP:150686813
complement(2302)-g, cdbSNP:202107026
complement(2345)-t, cdbSNP:141864003
complement(2356)-dbSNP:
complement(2356)-g, adbSNP:201121939
complement(2382)-t, cdbSNP:202020907
complement(2388)-t, g, cdbSNP:35926651
complement(2414)-g, adbSNP:201853046
complement(2501)-t, cdbSNP:188646084
complement(2518)-g, adbSNP:201811993
complement(2529)-t, adbSNP:2228337
complement(2569)-g, adbSNP:199898319
2582+c, tdbSNP:2229463
complement(2674)-, ctccgggagccctggactccccdbSNP:56106649
complement(2695..2696)-, acctgagdbSNP:144344499
complement(2696..2717)-, ggggagtccagggctcccggagdbSNP:41294726
complement(2696)-g, adbSNP:2748536
complement(2704..2725)-, gactccctctccgggagccctgdbSNP:34774258
complement(2726)-, tgactccctctccgggagccctgdbSNP:74966624
complement(2731)-t, adbSNP:186680597
complement(2740)-c, adbSNP:8193035
Gene SymbolTGM1
Gene SynonymARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
Chromosome14
Locus Map14q11.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000359 Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA. Full Length $805.33
ORF Sequence $711.66
Title Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis .
Author Bourrat,E., Blanchet-Bardon,C., Derbois,C., Cure,S. and Fischer,J.
Journal Arch Dermatol 148 (10), 1191-1195 (2012)
Title The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis .
Author Li,H., Lorie,E.P., Fischer,J., Vahlquist,A. and Torma,H.
Journal J. Invest. Dermatol. 132 (10), 2368-2375 (2012)
Title Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis .
Author Fachal,L., Rodriguez-Pazos,L., Ginarte,M., Beiras,A., Suarez-Penaranda,J.M., Toribio,J., Carracedo,A. and Vega,A.
Journal Int. J. Dermatol. 51 (4), 427-430 (2012)
Title [Novel compound heterozygous mutations of TGM1 gene identified in a Chinese collodion baby] .
Author Zhang,Y.L., Yue,Z.H., Yuan,P., Zhou,Q., Huang,W.J., Hu,B. and Wang,Y.M.
Journal Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29 (1), 1-4 (2012)
Title Multiple local and recent founder effects of TGM1 in Spanish families .
Author Fachal,L., Rodriguez-Pazos,L., Ginarte,M., Toribio,J., Salas,A. and Vega,A.
Journal PLoS ONE 7 (4), E33580 (2012)
Title Structure of the gene for human transglutaminase 1 .
Author Yamanishi,K., Inazawa,J., Liew,F.M., Nonomura,K., Ariyama,T., Yasuno,H., Abe,T., Doi,H., Hirano,J. and Fukushima,S.
Journal J. Biol. Chem. 267 (25), 17858-17863 (1992)
Title Type I keratinocyte transglutaminase: expression in human skin and psoriasis .
Author Schroeder,W.T., Thacher,S.M., Stewart-Galetka,S., Annarella,M., Chema,D., Siciliano,M.J., Davies,P.J., Tang,H.Y., Sowa,B.A. and Duvic,M.
Journal J. Invest. Dermatol. 99 (1), 27-34 (1992)
Title Organization and evolution of the human epidermal keratinocyte transglutaminase I gene .
Author Polakowska,R.R., Eickbush,T., Falciano,V., Razvi,F. and Goldsmith,L.A.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (10), 4476-4480 (1992)
Title Structure and organization of the human transglutaminase 1 gene .
Author Kim,I.G., McBride,O.W., Wang,M., Kim,S.Y., Idler,W.W. and Steinert,P.M.
Journal J. Biol. Chem. 267 (11), 7710-7717 (1992)
Title Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function .
Author Phillips,M.A., Stewart,B.E. and Rice,R.H.
Journal J. Biol. Chem. 267 (4), 2282-2286 (1992)

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