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
Other DBs
NCBI-GeneID: 7051
NCBI-ProteinID: NP_000350
OMIM: 190195
HGNC: 11777
Ensembl: ENSG00000092295
UniProt: P22735
Structure
LinkDB
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

KEGG   Homo sapiens (human): 9333
Entry
9333              CDS       T01001                                 
Symbol
TGM5, PSS2, TG(X), TGASE5, TGASEX, TGM6, TGMX, TGX
Name
(RefSeq) transglutaminase 5
  KO
K05622  transglutaminase 5 [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
Disease
H00737  Peeling skin syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09158 Development and regeneration
   04382 Cornified envelope formation
    9333 (TGM5)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.13  protein-glutamine gamma-glutamyltransferase
     9333 (TGM5)
SSDB
Motif
Pfam: Transglut_C Transglut_N Transglut_core
Other DBs
NCBI-GeneID: 9333
NCBI-ProteinID: NP_963925
OMIM: 603805
HGNC: 11781
Ensembl: ENSG00000104055
UniProt: O43548 B4DPS8
LinkDB
Position
15:complement(43232590..43266928)
AA seq 720 aa
MAQGLEVALTDLQSSRNNVRHHTEEITVDHLLVRRGQAFNLTLYFRNRSFQPGLDNIIFV
VETGPLPDLALGTRAVFSLARHHSPSPWIAWLETNGATSTEVSLCAPPTAAVGRYLLKIH
IDSFQGSVTAYQLGEFILLFNPWCPEDAVYLDSEPQRQEYVMNDYGFIYQGSKNWIRPCP
WNYGQFEDKIIDICLKLLDKSLHFQTDPATDCALRGSPVYVSRVVCAMINSNDDNGVLNG
NWSENYTDGANPAEWTGSVAILKQWNATGCQPVRYGQCWVFAAVMCTVMRCLGIPTRVIT
NFDSGHDTDGNLIIDEYYDNTGRILGNKKKDTIWNFHVWNECWMARKDLPPAYGGWQVLD
ATPQEMSNGVYCCGPASVRAIKEGEVDLNYDTPFVFSMVNADCMSWLVQGGKEQKLHQDT
SSVGNFISTKSIQSDERDDITENYKYEEGSLQERQVFLKALQKLKARSFHGSQRGAELQP
SRPTSLSQDSPRSLHTPSLRPSDVVQVSLKFKLLDPPNMGQDICFVLLALNMSSQFKDLK
VNLSAQSLLHDGSPLSPFWQDTAFITLSPKEAKTYPCKISYSQYSQYLSTDKLIRISALG
EEKSSPEKILVNKIITLSYPSITINVLGAAVVNQPLSIQVIFSNPLSEQVEDCVLTVEGS
GLFKKQQKVFLGVLKPQHQASIILETVPFKSGQRQIQANMRSNKFKDIKGYRNVYVDFAL
NT seq 2163 nt   +upstreamnt  +downstreamnt
atggcccaagggctagaagtggccctcacagacctccagagctccagaaataatgtgcgg
caccacacggaggagatcactgtggaccacctgcttgttcgccggggccaggccttcaac
ctcaccctgtacttcaggaaccggagcttccagccaggcctggacaacatcatcttcgtg
gttgaaactggaccgctgccagacctggccttggggactcgggctgtgttcagcctggca
cgccatcacagccccagcccctggattgcctggctggagaccaatggggccacctccaca
gaggtgagcttgtgcgctcctcccacggcggccgtgggtcggtacctcttgaaaatccac
atcgactccttccaggggtctgtgacggcctaccagctaggggagttcatcctgcttttc
aatccctggtgcccagaggatgctgtctacttggacagtgaaccccagaggcaggagtat
gtcatgaatgattatggcttcatctaccaaggcagcaagaactggatccgcccatgtccc
tggaactatggacagtttgaagacaaaatcatagacatctgcctgaagctgctagacaag
agcctgcacttccagactgacccagccacagactgtgctctgcggggaagccccgtctac
gtcagcagagtggtgtgtgccatgatcaacagcaatgatgataatggggtgctcaatgga
aactggagtgagaattacacagacggcgccaaccctgcggagtggacgggcagcgtggcc
atcctgaagcagtggaacgccacaggctgccagcccgtgcgctacgggcaatgctgggtc
tttgctgccgtcatgtgcacagtgatgaggtgtctggggatccctacccgtgtgatcacc
aacttcgactctggccacgatacagatggaaacctgatcatagatgagtattatgacaac
acaggcaggattttggggaataagaagaaggatactatctggaacttccatgtctggaat
gagtgctggatggcccggaaggatctgccccctgcatatggaggctggcaggtgctggac
gccacacctcaggagatgagcaacggcgtctactgctgtggccctgcctctgtcagagcc
atcaaagaaggagaagtggacctgaactatgacacgccctttgtgttttcgatggtgaat
gctgactgcatgtcctggctcgtccagggagggaaggagcagaagcttcaccaggacacg
agttctgttggcaattttatcagcacaaagagcatccagagtgacgagcgggatgacatc
acagagaactacaagtatgaagaaggatccctccaggagaggcaggtgtttctgaaggct
ctgcagaagctgaaggctagaagcttccatggctcccaaagaggagcagagttgcaacct
tccaggcccacatcactgagccaggacagccctcggagcctgcatacaccttcccttcga
cccagtgatgtggtgcaagtctccctgaaattcaagctgctcgacccgcccaacatgggc
caggatatatgctttgtcctgctggccctcaacatgtcctcccagttcaaggacctcaaa
gtgaacctgagtgcccagtctctgctgcacgatggcagccccctgtccccattctggcag
gacacagcgttcatcacactctctcctaaagaagcaaagacctacccctgcaaaatctcc
tattcccagtacagccagtacctgtcaacagacaagctgatccgcatcagtgccctgggt
gaagagaaaagcagtcctgagaaaatcctggtgaacaagatcatcaccttatcttatcca
agcatcacgattaatgttctaggagcagccgttgtgaaccagccactctccatacaggtg
atattttcaaaccccctctcggagcaggttgaggactgtgtgctgactgtggaaggaagt
ggcctcttcaagaaacagcagaaagtcttccttggagtcctcaaaccccaacaccaagca
agcatcattctggagaccgtccccttcaagagtggacaaaggcagatccaagctaatatg
agaagcaacaagtttaaggacattaagggttacaggaatgtttatgtagactttgcatta
taa

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