KEGG T01001: 7051

Homo sapiens (human): 7051

Entry

7051 CDS T01001

Gene name

TGM1, ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK

Definition

transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (EC:2.3.2.13)

Orthology

K05619

transglutaminase 1 [EC:2.3.2.13]

Organism

hsa Homo sapiens (human)

Disease

H00734

Lamellar ichthyosis (LI) and Non-bullous congenital ichthyosiform erythroderma (NBCIE)

Class

SSDB

Motif

Pfam:

Transglut_C Transglut_N Transglut_core DUF11

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2XZZ

Position

14q11.2

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

Ontology (1)   
   KEGG BRITE (1)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (15)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (31)   
   RefSeq(nuc) (1)   
   GenBank (15)   
   EMBL (15)   
3D Structure (1)   
   PDB (1)   
Protein domain (4)   
   Pfam (4)   
All databases (68)   

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