• Gene id: 7053

Gene Summary

• Gene Symbol: TGM3   Gene   UCSC   Ensembl
• Aliases: TGE, UHS2
• Gene name: transglutaminase 3
• Alternate names: protein-glutamine gamma-glutamyltransferase E, E polypeptide, protein-glutamine-gamma-glutamyltransferase, TG(E), TGase E, TGase-3, transglutaminase E,
• Gene location: 20p13 (2296000: 2341078)     Exons: 13     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 188061

Protein Summary

• Protein general information: Q08188  
  • 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
  • Length: 693  
  • Mass: 76632
• Sequence:

  MAALGVQSINWQTAFNRQAHHTDKFSSQELILRRGQNFQVLMIMNKGLGSNERLEFIVSTGPYPSESAMTKAVFP
  LSNGSSGGWSAVLQASNGNTLTISISSPASAPIGRYTMALQIFSQGGISSVKLGTFILLFNPWLNVDSVFMGNHA
  EREEYVQEDAGIIFVGSTNRIGMIGWNFGQFEEDILSICLSILDRSLNFRRDAATDVASRNDPKYVGRVLSAMIN
  SNDDNGVLAGNWSGTYTGGRDPRSWNGSVEILKNWKKSGFSPVRYGQCWVFAGTLNTALRSLGIPSRVITNFNSA
  HDTDRNLSVDVYYDPMGNPLDKGSDSVWNFHVWNEGWFVRSDLGPSYGGWQVLDATPQERSQGVFQCGPASVIGV
  REGDVQLNFDMPFIFAEVNADRITWLYDNTTGKQWKNSVNSHTIGRYISTKAVGSNARMDVTDKYKYPEGSDQER
  QVFQKALGKLKPNTPFAATSSMGLETEEQEPSIIGKLKVAGMLAVGKEVNLVLLLKNLSRDTKTVTVNMTAWTII
  YNGTLVHEVWKDSATMSLDPEEEAEHPIKISYAQYEKYLKSDNMIRITAVCKVPDESEVVVERDIILDNPTLTLE
  VLNEARVRKPVNVQMLFSNPLDEPVRDCVLMVEGSGLLLGNLKIDVPTLGPKEGSRVRFDILPSRSGTKQLLADF
  SCNKFPAIKAMLSIDVAE

• Structural information:
  • Interpro: IPR013783  IPR014756  IPR038765  IPR002931  IPR036985   IPR023608  IPR013808  IPR008958  IPR036238  IPR001102  
  • Prosite: PS00547
  • PDB: 1L9M 1L9N 1NUD 1NUF 1NUG
  • PDBsum: 1L9M 1L9N 1NUD 1NUF 1NUG
  • STRING: ENSP00000370867
• Other Databases: GeneCards:  TGM3  Malacards:  TGM3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018149	peptide cross-linking	IBA	biological process
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IBA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IDA	molecular function
GO:0018149	peptide cross-linking	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
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:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0031424	keratinization	IEA	biological process
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005198	structural molecule activity	IDA	molecular function
GO:0043163	cell envelope organization	IDA	biological process
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IDA	cellular component
GO:0018149	peptide cross-linking	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0003824	catalytic activity	IDA	molecular function
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IDA	molecular function
GO:0006464	cellular protein modification process	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0031069	hair follicle morphogenesis	TAS	biological process
GO:0016746	transferase activity, transferring acyl groups	TAS	molecular function
GO:0030216	keratinocyte differentiation	TAS	biological process
GO:0030216	keratinocyte differentiation	IEP	biological process

Diseases

Associated diseases	References
Uncombable hair syndrome	KEGG:H01796
Uncombable hair syndrome	KEGG:H01796
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq