TGM1
entrez
7051
canonical
uniprot
P22735
canonical
ensembl
ENSG00000092295
resolver
ensembl
ENSG00000285348
resolver
ensp
ENSP00000206765
resolver
genesymbol
TGM1
resolver
genesymbol_syn
KTG
resolver
hgnc
HGNC:11777
resolver
uniprot
B4DWR7
resolver
uniprot
Q197M4
resolver
uniprot_entry
TGM1_HUMAN
resolver
uniprot_sec
B4DWR7
resolver
uniprot_sec
Q197M4
resolver
amino_acid_sequence
MMDGPRSDVGRWGGNPLQPPTTPSPEPEPEPDGRSRRGGGRSFWARCCGCCSCRNAADDDWGPEPSDSRGRGSSSGTRRPGSRGSDSRRPVSRGSGVNAAGDGTIREGMLVVNGVDLLSSRSDQNRREHHTDEYEYDELIVRRGQPFHMLLLLSRTYESSDRITLELLIGNNPEVGKGTHVIIPVGKGGSGGWKAQVVKASGQNLNLRVHTSPNAIIGKFQFTVRTQSDAGEFQLPFDPRNEIYILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIGERTWNYGQFDHGVLDACLYILDRRGMPYGGRGDPVNVSRVISAMVNSLDDNGVLIGNWSGDYSRGTNPSAWVGSVEILLSYLRTGYSVPYGQCWVFAGVTTTVLRCLGLATRTVTNFNSAHDTDTSLTMDIYFDENMKPLEHLNHDSVWNFHVWNDCWMKRPDLPSGFDGWQVVDATPQETSSGIFCCGPCSVESIKNGLVYMKYDTPFIFAEVNSDKVYWQRQDDGSFKIVYVEEKAIGTLIVTKAISSNMREDITYLYKHPEGSDAERKAVETAAAHGSKPNVYANRGSAEDVAMQVEAQDAVMGQDLMVSVMLINHSSSRRTVKLHLYLSVTFYTGVSGTIFKETKKEVELAPGASDRVTMPVAYKEYRPHLVDQGAMLLNVSGHVKESGQVLAKQHTFRLRTPDLSLTLLGAAVVGQECEVQIVFKNPLPVTLTNVVFRLEGSGLQRPKILNVGDIGGNETVTLRQSFVPVRPGPRQLIASLDSPQLSQVHGVIQVDVAPAPGDGGFFSDAGGDSHLGETIPMASRGGA
uniprot
proteins
disease_involvement
DISEASE: Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269|PubMed:11251583, ECO:0000269|PubMed:11511296, ECO:0000269|PubMed:19241467, ECO:0000269|PubMed:19890349, ECO:0000269|PubMed:20663883, ECO:0000269|PubMed:26220141, ECO:0000269|PubMed:7773290, ECO:0000269|PubMed:7824952, ECO:0000269|PubMed:9326318}. 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 (PubMed:7629111, PubMed:8824274, PubMed:26220141, PubMed:20663883). Responsible for cross-linking epidermal proteins during formation of the stratum corneum (PubMed:26220141). Involved in cell proliferation (PubMed:26220141). {ECO:0000269|PubMed:20663883, ECO:0000269|PubMed:26220141, ECO:0000269|PubMed:7629111, ECO:0000269|PubMed:8824274}.
uniprot
proteins
mass_dalton
89787
uniprot
proteins
mutagenesis
MUTAGEN 377; /note="C->A: Catalytically inactive. Does not localize to plasma membrane, accumulates in the endoplasmic reticulum."; /evidence="ECO:0000269|PubMed:20663883
uniprot
proteins
post_translational_modification
PTM: The membrane anchorage region possesses a cluster of five cysteines within which fatty acid(s) may become thioester-linked. It is subject to phorbol ester-stimulated phosphorylation and is hypersensitive to proteolysis, which releases the enzyme in a soluble form. {ECO:0000269|PubMed:8973564}.; PTM: Tyrosine-phosphorylated. {ECO:0000250|UniProtKB:Q9JLF6}.; PTM: The N-terminus is blocked. {ECO:0000269|PubMed:7629111}.; PTM: Activated by proteolytic processing. {ECO:0000269|PubMed:7629111}.; PTM: Myristoylated. {ECO:0000269|PubMed:8824274}.; PTM: Palmitoylated. {ECO:0000269|PubMed:8824274}.
uniprot
proteins
protein_family
Transglutaminase family
uniprot
proteins
protein_family
Transglutaminase superfamily
uniprot
proteins
pubmed
11251583
uniprot
proteins
pubmed
11511296
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
1346394
uniprot
proteins
pubmed
1348508
uniprot
proteins
pubmed
1350092
uniprot
proteins
pubmed
1351505
uniprot
proteins
pubmed
1381356
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1670769
uniprot
proteins
pubmed
1673840
uniprot
proteins
pubmed
1704039
uniprot
proteins
pubmed
17762858
uniprot
proteins
pubmed
19241467
uniprot
proteins
pubmed
1979171
uniprot
proteins
pubmed
19890349
uniprot
proteins
pubmed
20663883
uniprot
proteins
pubmed
26220141
uniprot
proteins
pubmed
40409913
uniprot
proteins
pubmed
7629111
uniprot
proteins
pubmed
7773290
uniprot
proteins
pubmed
7824952
uniprot
proteins
pubmed
8824274
uniprot
proteins
pubmed
8973564
uniprot
proteins
pubmed
9326318
uniprot
proteins
sequence_length
817
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20663883, ECO:0000269|PubMed:7629111, ECO:0000269|PubMed:8824274}; Lipid-anchor {ECO:0000269|PubMed:8824274}. Cytoplasm, cytosol {ECO:0000269|PubMed:7629111, ECO:0000269|PubMed:8824274}. Note=Myristoylation and palmitoylation mediate the membrane localization. {ECO:0000269|PubMed:8824274}.
uniprot
proteins