TGM3 (transglutaminase 3)

Gene

• Entrez ID: 7053
• Gene name: Transglutaminase 3
• Gene symbol: TGM3
• Synonyms: TGE, UHS2
• Chromosome: 20
• Chromosome location: 20p13
• Summary: Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs779702016	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IBA	21873635
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IDA	8099584, 12679341, 21282207
GO:0003824	Function	Catalytic activity	IDA	8099584
GO:0005198	Function	Structural molecule activity	IDA	5038456
GO:0005509	Function	Calcium ion binding	IDA	12679341
GO:0005737	Component	Cytoplasm	IDA	12850301, 27866708
GO:0006464	Process	Cellular protein modification process	NAS	8099584
GO:0016746	Function	Transferase activity, transferring acyl groups	TAS	15193648
GO:0018149	Process	Peptide cross-linking	IBA	21873635
GO:0018149	Process	Peptide cross-linking	IDA	24643, 12679341
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0030216	Process	Keratinocyte differentiation	IEP	12850301
GO:0030216	Process	Keratinocyte differentiation	TAS	24643
GO:0031069	Process	Hair follicle morphogenesis	TAS	15193648
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IDA	5038456
GO:0031424	Process	Keratinization	IEA
GO:0032991	Component	Protein-containing complex	IDA	5038456
GO:0043163	Process	Cell envelope organization	IDA	24643
GO:0070062	Component	Extracellular exosome	HDA	19199708

Other IDs

• MIM: 600238
• HGNC: 11779
• e!Ensembl: ENSG00000125780

Protein

• UniProt ID: Q08188
• Protein name: Protein-glutamine gamma-glutamyltransferase E (EC 2.3.2.13) (Transglutaminase E) (TG(E)) (TGE) (TGase E) (Transglutaminase-3) (TGase-3) [Cleaved into: Protein-glutamine gamma-glutamyltransferase E 50 kDa catalytic chain; Protein-glutamine gamma-glutamyltr
• Protein function: Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a spec
• PDB: 1L9M, 1L9N, 1NUD, 1NUF, 1NUG, 8OXV, 8OXW, 8OXX, 8OXY, 8RMX, 8RMY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00868	Transglut_N	3 → 118	Transglutaminase family	Domain
  PF01841	Transglut_core	240 → 355	Transglutaminase-like superfamily	Family
  PF00927	Transglut_C	483 → 588	Transglutaminase family, C-terminal ig like domain	Domain
  PF00927	Transglut_C	595 → 693	Transglutaminase family, C-terminal ig like domain	Domain

• Sequence:

  MAALGVQSINWQTAFNRQAHHTDKFSSQELILRRGQNFQVLMIMNKGLGSNERLEFIVST
  GPYPSESAMTKAVFPLSNGSSGGWSAVLQASNGNTLTISISSPASAPIGRYTMALQIFSQ
  GGISSVKLGTFILLFNPWLNVDSVFMGNHAEREEYVQEDAGIIFVGSTNRIGMIGWNFGQ
  FEEDILSICLSILDRSLNFRRDAATDVASRNDPKYVGRVLSAMINSNDDNGVLAGNWSGT
  YTGGRDPRSWNGSVEILKNWKKSGFSPVRYGQCWVFAGTLNTALRSLGIPSRVITNFNSA
  HDTDRNLSVDVYYDPMGNPLDKGSDSVWNFHVWNEGWFVRSDLGPSYGGWQVLDATPQER
  SQGVFQCGPASVIGVREGDVQLNFDMPFIFAEVNADRITWLYDNTTGKQWKNSVNSHTIG
  RYISTKAVGSNARMDVTDKYKYPEGSDQERQVFQKALGKLKPNTPFAATSSMGLETEEQE
  PSIIGKLKVAGMLAVGKEVNLVLLLKNLSRDTKTVTVNMTAWTIIYNGTLVHEVWKDSAT
  MSLDPEEEAEHPIKISYAQYEKYLKSDNMIRITAVCKVPDESEVVVERDIILDNPTLTLE
  VLNEARVRKPVNVQMLFSNPLDEPVRDCVLMVEGSGLLLGNLKIDVPTLGPKEGSRVRFD
  ILPSRSGTKQLLADFSCNKFPAIKAMLSIDVAE

• Sequence length: 693

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Basal cell neoplasm	Basal Cell Neoplasm, Basal Cell Cancer	rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813	27539887, 25855136, 31174203, 24403052, 31174203, 24403052, 25855136, 27539887
Carcinoma	Basal cell carcinoma, Carcinoma, Basal Cell	rs121912654, rs555607708, rs786202962, rs1564055259	31174203, 24403052, 27539887, 25855136, 24403052
Uncombable hair syndrome	Uncombable hair syndrome	rs201930497, rs779702016, rs142129409, rs144944758	27866708

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia areata	Alopecia Areata
Liver carcinoma	Liver carcinoma		28284560
Trichodysplasia	Trichodysplasia