O43548 · TGM5_HUMAN
- ProteinProtein-glutamine gamma-glutamyltransferase 5
- GeneTGM5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids720 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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.
Catalytic activity
- L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N6-5-L-glutamyl-[protein] + NH4+
Cofactor
Note: Binds 1 Ca2+ ion per subunit.
Features
Showing features for active site, binding site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Active site | 278 | |||||
Sequence: C | ||||||
Active site | 337 | |||||
Sequence: H | ||||||
Active site | 360 | |||||
Sequence: D | ||||||
Binding site | 400 | Ca2+ (UniProtKB | ChEBI) | ||||
Sequence: N | ||||||
Binding site | 402 | Ca2+ (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 448 | Ca2+ (UniProtKB | ChEBI) | ||||
Sequence: E | ||||||
Binding site | 453 | Ca2+ (UniProtKB | ChEBI) | ||||
Sequence: E |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | plasma membrane | |
Molecular Function | metal ion binding | |
Molecular Function | protein-glutamine gamma-glutamyltransferase activity | |
Biological Process | epidermis development | |
Biological Process | protein modification process |
Keywords
- Molecular function
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameProtein-glutamine gamma-glutamyltransferase 5
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO43548
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Associated with intermediate filaments.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Peeling skin syndrome 2 (PSS2)
- Note
- DescriptionA non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In PSS2 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.
- See alsoMIM:609796
Natural variants in PSS2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_025849 | 113 | G>C | in PSS2; completely abolishes the enzyme activity; dbSNP:rs112292549 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_013248 | 67 | in dbSNP:rs757598618 | |||
Sequence: P → S | ||||||
Natural variant | VAR_025848 | 109 | in dbSNP:rs113463533 | |||
Sequence: T → M | ||||||
Natural variant | VAR_025849 | 113 | in PSS2; completely abolishes the enzyme activity; dbSNP:rs112292549 | |||
Sequence: G → C | ||||||
Natural variant | VAR_013249 | 352 | in dbSNP:rs28756768 | |||
Sequence: A → G | ||||||
Natural variant | VAR_052564 | 504 | in dbSNP:rs7171797 | |||
Sequence: V → M | ||||||
Natural variant | VAR_052565 | 521 | in dbSNP:rs35985214 | |||
Sequence: Q → R |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 842 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, modified residue, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Initiator methionine | 1 | Removed | ||||
Sequence: M | ||||||
Modified residue | 2 | N-acetylalanine | ||||
Sequence: A | ||||||
Chain | PRO_0000213713 | 2-720 | Protein-glutamine gamma-glutamyltransferase 5 | |||
Sequence: AQGLEVALTDLQSSRNNVRHHTEEITVDHLLVRRGQAFNLTLYFRNRSFQPGLDNIIFVVETGPLPDLALGTRAVFSLARHHSPSPWIAWLETNGATSTEVSLCAPPTAAVGRYLLKIHIDSFQGSVTAYQLGEFILLFNPWCPEDAVYLDSEPQRQEYVMNDYGFIYQGSKNWIRPCPWNYGQFEDKIIDICLKLLDKSLHFQTDPATDCALRGSPVYVSRVVCAMINSNDDNGVLNGNWSENYTDGANPAEWTGSVAILKQWNATGCQPVRYGQCWVFAAVMCTVMRCLGIPTRVITNFDSGHDTDGNLIIDEYYDNTGRILGNKKKDTIWNFHVWNECWMARKDLPPAYGGWQVLDATPQEMSNGVYCCGPASVRAIKEGEVDLNYDTPFVFSMVNADCMSWLVQGGKEQKLHQDTSSVGNFISTKSIQSDERDDITENYKYEEGSLQERQVFLKALQKLKARSFHGSQRGAELQPSRPTSLSQDSPRSLHTPSLRPSDVVQVSLKFKLLDPPNMGQDICFVLLALNMSSQFKDLKVNLSAQSLLHDGSPLSPFWQDTAFITLSPKEAKTYPCKISYSQYSQYLSTDKLIRISALGEEKSSPEKILVNKIITLSYPSITINVLGAAVVNQPLSIQVIFSNPLSEQVEDCVLTVEGSGLFKKQQKVFLGVLKPQHQASIILETVPFKSGQRQIQANMRSNKFKDIKGYRNVYVDFAL |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Expressed in foreskin keratinocytes.
Induction
By 12-O-tetradecanoylphorbol-13-acetate (TPA) and calcium in NHEK cells.
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | O43548 | CASP6 P55212 | 3 | EBI-12027348, EBI-718729 | |
BINARY | O43548 | GRB7 Q14451-3 | 3 | EBI-12027348, EBI-11991632 | |
BINARY | O43548 | HIP1 O00291 | 3 | EBI-12027348, EBI-473886 | |
BINARY | O43548 | KANK2 Q63ZY3 | 3 | EBI-12027348, EBI-2556193 | |
BINARY | O43548 | LAMP2 P13473-2 | 3 | EBI-12027348, EBI-21591415 | |
BINARY | O43548 | LARP4 Q6P4E2 | 3 | EBI-12027348, EBI-12079790 | |
BINARY | O43548 | LGALS7B P47929 | 3 | EBI-12027348, EBI-357504 | |
BINARY | O43548 | PRPF40A O75400-2 | 3 | EBI-12027348, EBI-5280197 | |
BINARY | O43548 | RBM41 Q96IZ5 | 3 | EBI-12027348, EBI-740773 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 470-499 | Disordered | ||||
Sequence: HGSQRGAELQPSRPTSLSQDSPRSLHTPSL | ||||||
Compositional bias | 474-499 | Polar residues | ||||
Sequence: RGAELQPSRPTSLSQDSPRSLHTPSL |
Sequence similarities
Belongs to the transglutaminase superfamily. Transglutaminase family.
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
O43548-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- NameLong
- Length720
- Mass (Da)80,778
- Last updated2007-01-23 v4
- Checksum9CF68884B48BAE1C
O43548-2
- NameShort
- Differences from canonical
- 64-145: Missing
Features
Showing features for alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_006415 | 64-145 | in isoform Short | |||
Sequence: Missing | ||||||
Compositional bias | 474-499 | Polar residues | ||||
Sequence: RGAELQPSRPTSLSQDSPRSLHTPSL |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF035960 EMBL· GenBank· DDBJ | AAC02978.1 EMBL· GenBank· DDBJ | mRNA | ||
AF035961 EMBL· GenBank· DDBJ | AAC02979.1 EMBL· GenBank· DDBJ | mRNA | ||
AF206510 EMBL· GenBank· DDBJ | AAF23981.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF206502 EMBL· GenBank· DDBJ | AAF23981.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF206503 EMBL· GenBank· DDBJ | AAF23981.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF206504 EMBL· GenBank· DDBJ | AAF23981.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF206505 EMBL· GenBank· DDBJ | AAF23981.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF206506 EMBL· GenBank· DDBJ | AAF23981.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF206507 EMBL· GenBank· DDBJ | AAF23981.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF206508 EMBL· GenBank· DDBJ | AAF23981.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF206509 EMBL· GenBank· DDBJ | AAF23981.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC119009 EMBL· GenBank· DDBJ | AAI19010.1 EMBL· GenBank· DDBJ | mRNA |