Hmdb loader
Identification
HMDB Protein ID HMDBP00682
Secondary Accession Numbers
  • 5955
Name Protein-glutamine gamma-glutamyltransferase K
Synonyms
  1. Epidermal TGase
  2. TG(K)
  3. TGK
  4. TGase K
  5. TGase-1
  6. Transglutaminase K
  7. Transglutaminase-1
Gene Name TGM1
Protein Type Unknown
Biological Properties
General Function Involved in protein-glutamine gamma-glutamyltransferase activity
Specific Function Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum.
Pathways Not Available
Reactions
Protein glutamine + alkylamine → protein N(5)-alkylglutamine + Ammonia details
GO Classification
Biological Process
organ morphogenesis
keratinocyte differentiation
cellular protein modification process
peptide cross-linking
cell envelope organization
keratinization
Cellular Component
cell-cell adherens junction
cornified envelope
intrinsic to membrane
Function
catalytic activity
transferase activity
transferase activity, transferring acyl groups
transferase activity, transferring amino-acyl groups
protein-glutamine gamma-glutamyltransferase activity
Molecular Function
metal ion binding
protein-glutamine gamma-glutamyltransferase activity
Process
metabolic process
macromolecule metabolic process
post-translational protein modification
peptide cross-linking
macromolecule modification
protein modification process
Cellular Location
  1. Lipid-anchor
  2. Membrane
Gene Properties
Chromosome Location 14
Locus 14q11.2
SNPs TGM1
Gene Sequence
>2454 bp
ATGATGGATGGGCCACGTTCCGATGTGGGCCGTTGGGGTGGCAACCCCTTGCAGCCCCCT
ACCACGCCATCTCCAGAGCCAGAGCCAGAGCCAGACGGACGCTCTCGCAGAGGAGGAGGC
CGTTCCTTCTGGGCTCGCTGCTGTGGCTGCTGTTCATGCCGAAATGCGGCAGATGACGAC
TGGGGACCTGAACCCTCTGACTCCAGGGGTCGAGGGTCCAGCTCTGGCACTCGAAGACCT
GGCTCCCGGGGCTCAGACTCCCGCCGGCCTGTATCCCGGGGCAGCGGTGTCAATGCAGCT
GGAGATGGCACCATCCGAGAGGGCATGCTAGTAGTGAACGGTGTGGACTTGCTGAGCTCG
CGCTCGGACCAGAACCGCCGAGAGCACCACACAGACGAGTATGAGTACGACGAGCTGATA
GTGCGCCGCGGGCAGCCTTTCCATATGCTCCTCCTCCTGTCCCGGACCTATGAATCCTCT
GATCGCATCACCCTTGAGTTACTCATCGGAAACAACCCCGAGGTGGGCAAGGGCACGCAC
GTGATCATCCCAGTGGGCAAGGGGGGCAGTGGAGGCTGGAAAGCCCAGGTGGTCAAGGCC
AGTGGGCAGAATCTGAACCTGCGGGTCCACACTTCCCCCAACGCCATCATCGGCAAGTTT
CAGTTCACAGTCCGCACACAATCAGACGCTGGGGAGTTCCAGTTGCCCTTTGACCCCCGC
AATGAGATCTACATCCTCTTCAACCCCTGGTGCCCAGAGGACATTGTGTACGTGGACCAT
GAGGATTGGCGGCAGGAGTATGTTCTTAATGAGTCTGGGAGAATTTACTACGGGACCGAA
GCACAGATTGGTGAGCGGACCTGGAACTACGGCCAGTTTGACCACGGGGTGCTGGATGCC
TGCTTATACATCCTGGACCGGCGGGGGATGCCATATGGAGGCCGTGGAGACCCAGTCAAT
GTCTCCCGGGTCATCTCTGCCATGGTGAACTCCCTGGATGACAATGGAGTCCTGATTGGG
AACTGGTCTGGTGATTACTCCCGAGGCACCAACCCATCAGCGTGGGTGGGCAGCGTGGAG
ATCCTGCTTAGCTACCTACGCACGGGATATTCCGTCCCCTATGGCCAGTGCTGGGTCTTT
GCTGGAGTGACCACCACAGTGCTGCGCTGCCTGGGTCTGGCCACCCGTACTGTCACCAAC
TTCAACTCCGCCCACGACACAGACACATCCCTTACCATGGACATCTACTTCGACGAGAAC
ATGAAGCCCCTGGAGCACCTGAACCATGATTCTGTCTGGAACTTCCATGTGTGGAACGAC
TGCTGGATGAAGAGGCCGGATCTGCCCTCGGGCTTTGATGGGTGGCAGGTGGTGGATGCC
ACACCCCAAGAGACTAGCAGTGGCATCTTCTGCTGCGGCCCCTGCTCTGTGGAGTCCATC
AAGAATGGCCTGGTCTACATGAAGTACGACACGCCTTTCATTTTTGCTGAGGTGAATAGT
GACAAGGTGTACTGGCAGCGGCAGGATGATGGCAGCTTCAAGATTGTTTATGTGGAGGAG
AAGGCCATCGGCACACTCATTGTCACAAAGGCCATCAGCTCCAACATGCGGGAGGACATC
ACCTACCTCTATAAGCACCCAGAAGGCTCAGACGCAGAGCGGAAGGCAGTAGAGACAGCA
GCAGCCCACGGCAGCAAACCCAATGTGTATGCCAACCGGGGCTCAGCGGAGGATGTGGCC
ATGCAGGTGGAGGCACAGGACGCGGTGATGGGGCAGGATCTGATGGTCTCTGTGATGCTG
ATCAATCACAGCAGCAGCCGCCGCACAGTGAAACTGCACCTCTACCTCTCAGTCACTTTC
TATACTGGTGTCAGTGGTACCATCTTCAAGGAGACCAAGAAGGAAGTGGAGCTGGCACCA
GGGGCCTCGGACCGTGTGACCATGCCAGTGGCCTACAAGGAATACCGGCCCCATCTTGTG
GACCAGGGGGCCATGCTGCTCAATGTCTCAGGCCACGTCAAGGAGAGCGGGCAGGTGCTG
GCCAAGCAGCACACCTTCCGTCTGCGCACCCCAGACCTCTCCCTCACGTTACTGGGAGCA
GCAGTGGTTGGCCAGGAGTGTGAAGTACAGATTGTCTTCAAGAACCCCCTTCCCGTCACC
CTCACCAATGTCGTCTTCCGGCTCGAAGGCTCTGGGTTACAGAGGCCCAAGATCCTCAAC
GTTGGGGACATTGGAGGCAATGAAACAGTGACACTGCGCCAGTCGTTTGTGCCTGTGCGA
CCAGGCCCCCGCCAGCTCATTGCCAGCTTGGACAGCCCACAGCTCTCCCAGGTGCACGGT
GTCATCCAGGTGGATGTGGCCCCAGCCCCTGGGGATGGGGGCTTCTTCTCAGACGCTGGA
GGTGACAGTCACTTAGGAGAGACCATCCCTATGGCATCTCGAGGTGGAGCTTAG
Protein Properties
Number of Residues 817
Molecular Weight 89786.14
Theoretical pI 6.037
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Protein-glutamine gamma-glutamyltransferase K
MMDGPRSDVGRWGGNPLQPPTTPSPEPEPEPDGRSRRGGGRSFWARCCGCCSCRNAADDD
WGPEPSDSRGRGSSSGTRRPGSRGSDSRRPVSRGSGVNAAGDGTIREGMLVVNGVDLLSS
RSDQNRREHHTDEYEYDELIVRRGQPFHMLLLLSRTYESSDRITLELLIGNNPEVGKGTH
VIIPVGKGGSGGWKAQVVKASGQNLNLRVHTSPNAIIGKFQFTVRTQSDAGEFQLPFDPR
NEIYILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIGERTWNYGQFDHGVLDA
CLYILDRRGMPYGGRGDPVNVSRVISAMVNSLDDNGVLIGNWSGDYSRGTNPSAWVGSVE
ILLSYLRTGYSVPYGQCWVFAGVTTTVLRCLGLATRTVTNFNSAHDTDTSLTMDIYFDEN
MKPLEHLNHDSVWNFHVWNDCWMKRPDLPSGFDGWQVVDATPQETSSGIFCCGPCSVESI
KNGLVYMKYDTPFIFAEVNSDKVYWQRQDDGSFKIVYVEEKAIGTLIVTKAISSNMREDI
TYLYKHPEGSDAERKAVETAAAHGSKPNVYANRGSAEDVAMQVEAQDAVMGQDLMVSVML
INHSSSRRTVKLHLYLSVTFYTGVSGTIFKETKKEVELAPGASDRVTMPVAYKEYRPHLV
DQGAMLLNVSGHVKESGQVLAKQHTFRLRTPDLSLTLLGAAVVGQECEVQIVFKNPLPVT
LTNVVFRLEGSGLQRPKILNVGDIGGNETVTLRQSFVPVRPGPRQLIASLDSPQLSQVHG
VIQVDVAPAPGDGGFFSDAGGDSHLGETIPMASRGGA
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID P22735
UniProtKB/Swiss-Prot Entry Name TGM1_HUMAN
PDB IDs
GenBank Gene ID M55183
GeneCard ID TGM1
GenAtlas ID TGM1
HGNC ID HGNC:11777
References
General References
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  3. Phillips MA, Stewart BE, Qin Q, Chakravarty R, Floyd EE, Jetten AM, Rice RH: Primary structure of keratinocyte transglutaminase. Proc Natl Acad Sci U S A. 1990 Dec;87(23):9333-7. [PubMed:1979171 ]
  4. Yamanishi K, Liew FM, Konishi K, Yasuno H, Doi H, Hirano J, Fukushima S: Molecular cloning of human epidermal transglutaminase cDNA from keratinocytes in culture. Biochem Biophys Res Commun. 1991 Mar 29;175(3):906-13. [PubMed:1673840 ]
  5. Kim HC, Idler WW, Kim IG, Han JH, Chung SI, Steinert PM: The complete amino acid sequence of the human transglutaminase K enzyme deduced from the nucleic acid sequences of cDNA clones. J Biol Chem. 1991 Jan 5;266(1):536-9. [PubMed:1670769 ]
  6. Phillips MA, Stewart BE, Rice RH: Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function. J Biol Chem. 1992 Feb 5;267(4):2282-6. [PubMed:1346394 ]
  7. Kim IG, McBride OW, Wang M, Kim SY, Idler WW, Steinert PM: Structure and organization of the human transglutaminase 1 gene. J Biol Chem. 1992 Apr 15;267(11):7710-7. [PubMed:1348508 ]
  8. Yamanishi K, Inazawa J, Liew FM, Nonomura K, Ariyama T, Yasuno H, Abe T, Doi H, Hirano J, Fukushima S: Structure of the gene for human transglutaminase 1. J Biol Chem. 1992 Sep 5;267(25):17858-63. [PubMed:1381356 ]
  9. Polakowska RR, Eickbush T, Falciano V, Razvi F, Goldsmith LA: Organization and evolution of the human epidermal keratinocyte transglutaminase I gene. Proc Natl Acad Sci U S A. 1992 May 15;89(10):4476-80. [PubMed:1350092 ]
  10. Polakowska R, Herting E, Goldsmith LA: Isolation of cDNA for human epidermal type I transglutaminase. J Invest Dermatol. 1991 Feb;96(2):285-8. [PubMed:1704039 ]
  11. Schroeder WT, Thacher SM, Stewart-Galetka S, Annarella M, Chema D, Siciliano MJ, Davies PJ, Tang HY, Sowa BA, Duvic M: Type I keratinocyte transglutaminase: expression in human skin and psoriasis. J Invest Dermatol. 1992 Jul;99(1):27-34. [PubMed:1351505 ]
  12. Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. [PubMed:19241467 ]
  13. Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, Bon A, Lautenschlager S, Schorderet DF, Hohl D: Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science. 1995 Jan 27;267(5197):525-8. [PubMed:7824952 ]
  14. Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, Bale SJ: Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet. 1995 Mar;9(3):279-83. [PubMed:7773290 ]
  15. Laiho E, Ignatius J, Mikkola H, Yee VC, Teller DC, Niemi KM, Saarialho-Kere U, Kere J, Palotie A: Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet. 1997 Sep;61(3):529-38. [PubMed:9326318 ]
  16. Akiyama M, Takizawa Y, Kokaji T, Shimizu H: Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol. 2001 Feb;144(2):401-7. [PubMed:11251583 ]
  17. Yang JM, Ahn KS, Cho MO, Yoneda K, Lee CH, Lee JH, Lee ES, Candi E, Melino G, Ahvazi B, Steinert PM: Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis. J Invest Dermatol. 2001 Aug;117(2):214-8. [PubMed:11511296 ]