KEGG   Homo sapiens (human): 7051
Entry
7051              CDS       T01001                                 
Symbol
TGM1, ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK
Name
(RefSeq) transglutaminase 1
  KO
K05619  transglutaminase 1 [EC:2.3.2.13]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04382  Cornified envelope formation
Network
nt06545  Cornified envelope formation
  Element
N01923  Closslinking of envoplakin, periplakin and involucrin
N01924  Loricrin oligomerization with small proline-rich proteins and further stabilization
N01929  Peroxidation and deglycosylation of acylglucosylceramide
Disease
H00734  Autosomal recessive congenital ichthyosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09158 Development and regeneration
   04382 Cornified envelope formation
    7051 (TGM1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.13  protein-glutamine gamma-glutamyltransferase
     7051 (TGM1)
SSDB
Motif
Pfam: Transglut_C Transglut_N Transglut_core LacZ_4 DUF7407
Other DBs
NCBI-GeneID: 7051
NCBI-ProteinID: NP_000350
OMIM: 190195
HGNC: 11777
Ensembl: ENSG00000092295
UniProt: P22735
Structure
Position
14:complement(24249114..24263177)
AA seq 817 aa
MMDGPRSDVGRWGGNPLQPPTTPSPEPEPEPDGRSRRGGGRSFWARCCGCCSCRNAADDD
WGPEPSDSRGRGSSSGTRRPGSRGSDSRRPVSRGSGVNAAGDGTIREGMLVVNGVDLLSS
RSDQNRREHHTDEYEYDELIVRRGQPFHMLLLLSRTYESSDRITLELLIGNNPEVGKGTH
VIIPVGKGGSGGWKAQVVKASGQNLNLRVHTSPNAIIGKFQFTVRTQSDAGEFQLPFDPR
NEIYILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIGERTWNYGQFDHGVLDA
CLYILDRRGMPYGGRGDPVNVSRVISAMVNSLDDNGVLIGNWSGDYSRGTNPSAWVGSVE
ILLSYLRTGYSVPYGQCWVFAGVTTTVLRCLGLATRTVTNFNSAHDTDTSLTMDIYFDEN
MKPLEHLNHDSVWNFHVWNDCWMKRPDLPSGFDGWQVVDATPQETSSGIFCCGPCSVESI
KNGLVYMKYDTPFIFAEVNSDKVYWQRQDDGSFKIVYVEEKAIGTLIVTKAISSNMREDI
TYLYKHPEGSDAERKAVETAAAHGSKPNVYANRGSAEDVAMQVEAQDAVMGQDLMVSVML
INHSSSRRTVKLHLYLSVTFYTGVSGTIFKETKKEVELAPGASDRVTMPVAYKEYRPHLV
DQGAMLLNVSGHVKESGQVLAKQHTFRLRTPDLSLTLLGAAVVGQECEVQIVFKNPLPVT
LTNVVFRLEGSGLQRPKILNVGDIGGNETVTLRQSFVPVRPGPRQLIASLDSPQLSQVHG
VIQVDVAPAPGDGGFFSDAGGDSHLGETIPMASRGGA
NT seq 2454 nt   +upstreamnt  +downstreamnt
atgatggatgggccacgttccgatgtgggccgttggggtggcaaccccttgcagccccct
accacgccatctccagagccagagccagagccagacggacgctctcgcagaggaggaggc
cgttccttctgggctcgctgctgtggctgctgttcatgccgaaatgcggcagatgacgac
tggggacctgaaccctctgactccaggggtcgagggtccagctctggcactcgaagacct
ggctcccggggctcagactcccgccggcctgtatcccggggcagcggtgtcaatgcagct
ggagatggcaccatccgagagggcatgctagtagtgaacggtgtggacttgctgagctcg
cgctcggaccagaaccgccgagagcaccacacagacgagtatgagtacgacgagctgata
gtgcgccgcgggcagcctttccatatgctcctcctcctgtcccggacctatgaatcctct
gatcgcatcacccttgagttactcatcggaaacaaccccgaggtgggcaagggcacgcac
gtgatcatcccagtgggcaaggggggcagtggaggctggaaagcccaggtggtcaaggcc
agtgggcagaatctgaacctgcgggtccacacttcccccaacgccatcatcggcaagttt
cagttcacagtccgcacacaatcagacgctggggagttccagttgccctttgacccccgc
aatgagatctacatcctcttcaacccctggtgcccagaggacattgtgtacgtggaccat
gaggattggcggcaggagtatgttcttaatgagtctgggagaatttactacgggaccgaa
gcacagattggtgagcggacctggaactacggccagtttgaccacggggtgctggatgcc
tgcttatacatcctggaccggcgggggatgccatatggaggccgtggagacccagtcaat
gtctcccgggtcatctctgccatggtgaactccctggatgacaatggagtcctgattggg
aactggtctggtgattactcccgaggcaccaacccatcagcgtgggtgggcagcgtggag
atcctgcttagctacctacgcacgggatattccgtcccctatggccagtgctgggtcttt
gctggcgtgaccaccacagtgctgcgctgcctgggtctggccacccgtactgtcaccaac
ttcaactccgcccacgacacagacacatcccttaccatggacatctacttcgacgagaac
atgaagcccctggagcacctgaaccatgattctgtctggaacttccatgtgtggaacgac
tgctggatgaagaggccggatctgccctcgggctttgatgggtggcaggtggtggatgcc
acaccccaagagactagcagtggcatcttctgctgcggcccctgctctgtggagtccatc
aagaatggcctggtctacatgaagtacgacacgcctttcatttttgctgaggtgaatagt
gacaaggtgtactggcagcggcaggatgatggcagcttcaagattgtttatgtggaggag
aaggccatcggcacactcattgtcacaaaggccatcagctccaacatgcgggaggacatc
acctacctctataagcacccagaaggctcagacgcagagcggaaggcagtagagacagca
gcagcccacggcagcaaacccaatgtgtatgccaaccggggctcagcggaggatgtggcc
atgcaggtggaggcacaggacgcggtgatggggcaggatctgatggtctctgtgatgctg
atcaatcacagcagcagccgccgcacagtgaaactgcacctctacctctcagtcactttc
tatactggtgtcagtggtaccatcttcaaggagaccaagaaggaagtggagctggcacca
ggggcctcggaccgtgtgaccatgccagtggcctacaaggaataccggccccatcttgtg
gaccagggggccatgctgctcaatgtctcaggccacgtcaaggagagcgggcaggtgctg
gccaagcagcacaccttccgtctgcgcaccccagacctctccctcacgttactgggagca
gcagtggttggccaggagtgtgaagtacagattgtcttcaagaacccccttcccgtcacc
ctcaccaatgtcgtcttccggctcgaaggctctgggttacagaggcccaagatcctcaac
gttggggacattggaggcaatgaaacagtgacactgcgccagtcgtttgtgcctgtgcga
ccaggcccccgccagctcattgccagcttggacagcccacagctctcccaggtgcacggt
gtcatccaggtggatgtggccccagcccctggggatgggggcttcttctcagacgctgga
ggtgacagtcacttaggagagaccatccctatggcatctcgaggtggagcttag

  All links  
Disease (2)   
   OMIM (2)   
Gene (29)   
   RefGene (22)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (27)   
   RefSeq(nuc) (1)   
   GenBank (13)   
   EMBL (13)   
3D Structure (1)   
   PDB (1)   
Protein domain (5)   
   Pfam (5)   
All databases (67)   

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