• Gene id: 9333

Gene Summary

• Gene Symbol: TGM5   Gene   UCSC   Ensembl
• Aliases: PSS2, TGASE5, TGASEX, TGM6, TGMX, TGX
• Gene name: transglutaminase 5
• Alternate names: protein-glutamine gamma-glutamyltransferase 5, TG(X), TGase X, TGase-5, transglutaminase V, transglutaminase X,
• Gene location: 15q15.2 (25430857: 25500208)     Exons: 11     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mu
• OMIM: 603805

Protein Summary

• Protein general information: O43548  
  • Name: Protein glutamine gamma glutamyltransferase 5 (EC 2.3.2.13) (Transglutaminase X) (TG(X)) (TGX) (TGase X) (Transglutaminase 5) (TGase 5)
  • Length: 720  
  • Mass: 80778
  • Tissue specificity: Expressed in foreskin keratinocytes.
• Sequence:

  MAQGLEVALTDLQSSRNNVRHHTEEITVDHLLVRRGQAFNLTLYFRNRSFQPGLDNIIFVVETGPLPDLALGTRA
  VFSLARHHSPSPWIAWLETNGATSTEVSLCAPPTAAVGRYLLKIHIDSFQGSVTAYQLGEFILLFNPWCPEDAVY
  LDSEPQRQEYVMNDYGFIYQGSKNWIRPCPWNYGQFEDKIIDICLKLLDKSLHFQTDPATDCALRGSPVYVSRVV
  CAMINSNDDNGVLNGNWSENYTDGANPAEWTGSVAILKQWNATGCQPVRYGQCWVFAAVMCTVMRCLGIPTRVIT
  NFDSGHDTDGNLIIDEYYDNTGRILGNKKKDTIWNFHVWNECWMARKDLPPAYGGWQVLDATPQEMSNGVYCCGP
  ASVRAIKEGEVDLNYDTPFVFSMVNADCMSWLVQGGKEQKLHQDTSSVGNFISTKSIQSDERDDITENYKYEEGS
  LQERQVFLKALQKLKARSFHGSQRGAELQPSRPTSLSQDSPRSLHTPSLRPSDVVQVSLKFKLLDPPNMGQDICF
  VLLALNMSSQFKDLKVNLSAQSLLHDGSPLSPFWQDTAFITLSPKEAKTYPCKISYSQYSQYLSTDKLIRISALG
  EEKSSPEKILVNKIITLSYPSITINVLGAAVVNQPLSIQVIFSNPLSEQVEDCVLTVEGSGLFKKQQKVFLGVLK
  PQHQASIILETVPFKSGQRQIQANMRSNKFKDIKGYRNVYVDFAL

• Structural information:
  • Interpro: IPR013783  IPR014756  IPR038765  IPR002931  IPR036985   IPR023608  IPR013808  IPR008958  IPR036238  IPR001102  
  • Prosite: PS00547
  • STRING: ENSP00000220420
• Other Databases: GeneCards:  TGM5  Malacards:  TGM5

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:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0018149	peptide cross-linking	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	TAS	molecular function
GO:0006464	cellular protein modification process	TAS	biological process
GO:0008544	epidermis development	TAS	biological process
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0070268	cornification	TAS	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
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Peeling skin syndrome	KEGG:H00737
Peeling skin syndrome	KEGG:H00737
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)