Version 5.4
| Homo sapiens Protein: TGM5 | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-8326.7 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | TGM5 | ||||||||||||||||||
| Protein Name | transglutaminase 5 | ||||||||||||||||||
| Synonyms | TGASE5; TGASEX; TGM6; TGMX; TGX; | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000220419 | ||||||||||||||||||
| InnateDB Gene | IDBG-8322 (TGM5) | ||||||||||||||||||
| Protein Structure |
|
||||||||||||||||||
| UniProt Annotation | |||||||||||||||||||
| Function | Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes. | ||||||||||||||||||
| Subcellular Localization | Cytoplasm {ECO:0000269PubMed:15290349}. Note=Associated with intermediate filaments. | ||||||||||||||||||
| Disease Associations | Peeling skin syndrome, acral type (APSS) [MIM:609796]: A non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In APSS patients, skin peeling is painless and strictly limited to the dorsa of the hands and feet. It is accompanied by painless erythema and spontaneous non- scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction. {ECO:0000269PubMed:16380904}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
| Tissue Specificity | Expressed in foreskin keratinocytes. | ||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
| Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
| Biological Process |
|
||||||||||||||||||
| Cellular Component |
|
||||||||||||||||||
| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR001102
Transglutaminase, N-terminal IPR002931 Transglutaminase-like IPR008958 Transglutaminase, C-terminal IPR014756 Immunoglobulin E-set |
||||||||||||||||||
| PFAM |
PF00868
PF01841 PF00927 |
||||||||||||||||||
| PRINTS | |||||||||||||||||||
| PIRSF | |||||||||||||||||||
| SMART |
SM00460
|
||||||||||||||||||
| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | O43548 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-O43548 | ||||||||||||||||||
| TrEMBL | A0A024R9T4 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 9333 | ||||||||||||||||||
| UniGene | Hs.129719 | ||||||||||||||||||
| RefSeq | NP_004236 | ||||||||||||||||||
| HUGO | HGNC:11781 | ||||||||||||||||||
| OMIM | 603805 | ||||||||||||||||||
| CCDS | CCDS32211 | ||||||||||||||||||
| HPRD | 11949 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AF035960 AF035961 AF206502 AF206503 AF206504 AF206505 AF206506 AF206507 AF206508 AF206509 AF206510 BC119009 CH471125 | ||||||||||||||||||
| GenPept | AAC02978 AAC02979 AAF23981 AAI19010 EAW92594 EAW92595 | ||||||||||||||||||