TGM5
entrez
9333
canonical
uniprot
O43548
canonical
ensembl
ENSG00000104055
resolver
ensp
ENSP00000220419
resolver
ensp
ENSP00000220420
resolver
genesymbol
TGM5
resolver
genesymbol_syn
TGMX
resolver
hgnc
HGNC:11781
resolver
uniprot
B4DPS8
resolver
uniprot
O43549
resolver
uniprot
Q0VF40
resolver
uniprot
Q9UEZ4
resolver
uniprot_entry
B4DPS8_HUMAN
resolver
uniprot_entry
TGM5_HUMAN
resolver
uniprot_sec
O43549
resolver
uniprot_sec
Q0VF40
resolver
uniprot_sec
Q9UEZ4
resolver
amino_acid_sequence
MAQGLEVALTDLQSSRNNVRHHTEEITVDHLLVRRGQAFNLTLYFRNRSFQPGLDNIIFVVETGPLPDLALGTRAVFSLARHHSPSPWIAWLETNGATSTEVSLCAPPTAAVGRYLLKIHIDSFQGSVTAYQLGEFILLFNPWCPEDAVYLDSEPQRQEYVMNDYGFIYQGSKNWIRPCPWNYGQFEDKIIDICLKLLDKSLHFQTDPATDCALRGSPVYVSRVVCAMINSNDDNGVLNGNWSENYTDGANPAEWTGSVAILKQWNATGCQPVRYGQCWVFAAVMCTVMRCLGIPTRVITNFDSGHDTDGNLIIDEYYDNTGRILGNKKKDTIWNFHVWNECWMARKDLPPAYGGWQVLDATPQEMSNGVYCCGPASVRAIKEGEVDLNYDTPFVFSMVNADCMSWLVQGGKEQKLHQDTSSVGNFISTKSIQSDERDDITENYKYEEGSLQERQVFLKALQKLKARSFHGSQRGAELQPSRPTSLSQDSPRSLHTPSLRPSDVVQVSLKFKLLDPPNMGQDICFVLLALNMSSQFKDLKVNLSAQSLLHDGSPLSPFWQDTAFITLSPKEAKTYPCKISYSQYSQYLSTDKLIRISALGEEKSSPEKILVNKIITLSYPSITINVLGAAVVNQPLSIQVIFSNPLSEQVEDCVLTVEGSGLFKKQQKVFLGVLKPQHQASIILETVPFKSGQRQIQANMRSNKFKDIKGYRNVYVDFAL
uniprot
proteins
disease_involvement
DISEASE: Peeling skin syndrome 2 (PSS2) [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 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. {ECO:0000269|PubMed:16380904}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.13
uniprot
proteins
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.
uniprot
proteins
mass_dalton
80778
uniprot
proteins
protein_family
Transglutaminase family
uniprot
proteins
protein_family
Transglutaminase superfamily
uniprot
proteins
pubmed
11390390
uniprot
proteins
pubmed
15290349
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16380904
uniprot
proteins
pubmed
9452468
uniprot
proteins
sequence_length
720
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15290349}. Note=Associated with intermediate filaments.
uniprot
proteins