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)
Disease
H00734  Autosomal recessive congenital ichthyosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09191 Unclassified: metabolism
   99980 Enzymes with EC numbers
    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
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

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