• Gene id: 7051

Gene Summary

• Gene Symbol: TGM1   Gene   UCSC   Ensembl
• Aliases: ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK
• Gene name: transglutaminase 1
• Alternate names: protein-glutamine gamma-glutamyltransferase K, K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase, TG(K), TGase K, TGase-1, epidermal TGase, transglutaminase 1 isoform, transglutaminase K, transglutaminase, keratinocyte,
• Gene location: 14q12 (24263176: 24249113)     Exons: 15     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 190195

Protein Summary

• Protein general information: P22735  
  • Name: Protein glutamine gamma glutamyltransferase K (EC 2.3.2.13) (Epidermal TGase) (Transglutaminase K) (TG(K)) (TGK) (TGase K) (Transglutaminase 1) (TGase 1)
  • Length: 817  
  • Mass: 89787
• Sequence:

  MMDGPRSDVGRWGGNPLQPPTTPSPEPEPEPDGRSRRGGGRSFWARCCGCCSCRNAADDDWGPEPSDSRGRGSSS
  GTRRPGSRGSDSRRPVSRGSGVNAAGDGTIREGMLVVNGVDLLSSRSDQNRREHHTDEYEYDELIVRRGQPFHML
  LLLSRTYESSDRITLELLIGNNPEVGKGTHVIIPVGKGGSGGWKAQVVKASGQNLNLRVHTSPNAIIGKFQFTVR
  TQSDAGEFQLPFDPRNEIYILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIGERTWNYGQFDHGVLDA
  CLYILDRRGMPYGGRGDPVNVSRVISAMVNSLDDNGVLIGNWSGDYSRGTNPSAWVGSVEILLSYLRTGYSVPYG
  QCWVFAGVTTTVLRCLGLATRTVTNFNSAHDTDTSLTMDIYFDENMKPLEHLNHDSVWNFHVWNDCWMKRPDLPS
  GFDGWQVVDATPQETSSGIFCCGPCSVESIKNGLVYMKYDTPFIFAEVNSDKVYWQRQDDGSFKIVYVEEKAIGT
  LIVTKAISSNMREDITYLYKHPEGSDAERKAVETAAAHGSKPNVYANRGSAEDVAMQVEAQDAVMGQDLMVSVML
  INHSSSRRTVKLHLYLSVTFYTGVSGTIFKETKKEVELAPGASDRVTMPVAYKEYRPHLVDQGAMLLNVSGHVKE
  SGQVLAKQHTFRLRTPDLSLTLLGAAVVGQECEVQIVFKNPLPVTLTNVVFRLEGSGLQRPKILNVGDIGGNETV
  TLRQSFVPVRPGPRQLIASLDSPQLSQVHGVIQVDVAPAPGDGGFFSDAGGDSHLGETIPMASRGGA

• Structural information:
  • Interpro: IPR013783  IPR014756  IPR038765  IPR002931  IPR036985   IPR023608  IPR013808  IPR008958  IPR036238  IPR001102  
  • Prosite: PS00547
  • PDB: 2XZZ
  • PDBsum: 2XZZ
  • STRING: ENSP00000206765
• Other Databases: GeneCards:  TGM1  Malacards:  TGM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IBA	molecular function
GO:0018149	peptide cross-linking	IBA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0045787	positive regulation of cell cycle	IMP	biological process
GO:0010838	positive regulation of keratinocyte proliferation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0018149	peptide cross-linking	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0031424	keratinization	IEA	biological process
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0001533	cornified envelope	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0070268	cornification	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IDA	molecular function
GO:0018149	peptide cross-linking	IDA	biological process
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IDA	molecular function
GO:0030216	keratinocyte differentiation	IDA	biological process
GO:0031224	intrinsic component of membrane	IDA	cellular component
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0043163	cell envelope organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001533	cornified envelope	TAS	cellular component
GO:0006464	cellular protein modification process	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Autosomal recessive congenital ichthyosis	KEGG:H00734
Autosomal recessive congenital ichthyosis	KEGG:H00734
Autosomal recessive congenital ichthyosis 1	PMID:7824952
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)