• Gene id: 343641

Gene Summary

• Gene Symbol: TGM6   Gene   UCSC   Ensembl
• Aliases: SCA35, TG6, TGM3L, TGY, dJ734P14.3
• Gene name: transglutaminase 6
• Alternate names: protein-glutamine gamma-glutamyltransferase 6, TGase Y, TGase-6, transglutaminase y,
• Gene location: 20p13 (2380900: 2432752)     Exons: 13     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alte
• OMIM: 606469

Protein Summary

• Protein general information: O95932  
  • Name: Protein glutamine gamma glutamyltransferase 6 (EC 2.3.2.13) (Transglutaminase Y) (TGY) (TGase Y) (Transglutaminase 3 like) (TGase 3 like) (Transglutaminase 6) (TG6) (TGase 6)
  • Length: 706  
  • Mass: 79312
• Sequence:

  MAGIRVTKVDWQRSRNGAAHHTQEYPCPELVVRRGQSFSLTLELSRALDCEEILIFTMETGPRASEALHTKAVFQ
  TSELERGEGWTAAREAQMEKTLTVSLASPPSAVIGRYLLSIRLSSHRKHSNRRLGEFVLLFNPWCAEDDVFLASE
  EERQEYVLSDSGIIFRGVEKHIRAQGWNYGQFEEDILNICLSILDRSPGHQNNPATDVSCRHNPIYVTRVISAMV
  NSNNDRGVVQGQWQGKYGGGTSPLHWRGSVAILQKWLKGRYKPVKYGQCWVFAGVLCTVLRCLGIATRVVSNFNS
  AHDTDQNLSVDKYVDSFGRTLEDLTEDSMWNFHVWNESWFARQDLGPSYNGWQVLDATPQEESEGVFRCGPASVT
  AIREGDVHLAHDGPFVFAEVNADYITWLWHEDESRERVYSNTKKIGRCISTKAVGSDSRVDITDLYKYPEGSRKE
  RQVYSKAVNRLFGVEASGRRIWIRRAGGRCLWRDDLLEPATKPSIAGKFKVLEPPMLGHDLRLALCLANLTSRAQ
  RVRVNLSGATILYTRKPVAEILHESHAVRLGPQEEKRIPITISYSKYKEDLTEDKKILLAAMCLVTKGEKLLVEK
  DITLEDFITIKVLGPAMVGVAVTVEVTVVNPLIERVKDCALMVEGSGLLQEQLSIDVPTLEPQERASVQFDITPS
  KSGPRQLQVDLVSPHFPDIKGFVIVHVATAK

• Structural information:
  • Interpro: IPR013783  IPR014756  IPR038765  IPR002931  IPR036985   IPR023608  IPR013808  IPR008958  IPR036238  IPR001102  
  • Prosite: PS00547
  • STRING: ENSP00000202625
• Other Databases: GeneCards:  TGM6  Malacards:  TGM6

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:0005737	cytoplasm	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
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:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IDA	molecular function
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia	KEGG:H00063
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881