KEGG   Homo sapiens (human): 2131Help
Entry
2131              CDS       T01001                                 

Gene name
EXT1, EXT, LGCR, LGS, TRPS2, TTV
Definition
(RefSeq) exostosin glycosyltransferase 1
  KO
K02366  glucuronyl/N-acetylglucosaminyl transferase EXT1 [EC:2.4.1.224 2.4.1.225]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00534  Glycosaminoglycan biosynthesis - heparan sulfate / heparin
hsa01100  Metabolic pathways
Module
hsa_M00059  Glycosaminoglycan biosynthesis, heparan sulfate backbone
Disease
H00122  Multiple exostoses
H00493  Heparan sulfate proteoglycan gene defects
H00977  Trichorhinophalangeal dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Glycan biosynthesis and metabolism
   00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin
    2131 (EXT1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.224  glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
     2131 (EXT1)
    2.4.1.225  N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
     2131 (EXT1)
Glycosyltransferases [BR:hsa01003]
 Glycan extension
  O-Glycan
   2131 (EXT1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Glyco_transf_64 Exostosin
Motif
Other DBs
NCBI-GeneID: 2131
NCBI-ProteinID: NP_000118
OMIM: 608177
HGNC: 3512
Ensembl: ENSG00000182197
Vega: OTTHUMG00000059718
Pharos: Q16394(Tbio)
UniProt: Q16394
Position
8q24.11
AA seq 746 aa AA seqDB search
MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPD
ALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYP
QQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQS
LHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKD
HPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKH
GKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVML
SNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVE
KIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKF
TAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIE
GESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWD
NSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFL
VSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHS
QMRLDPVLFKDQVSILRKKYRDIERL
NT seq 2241 nt NT seq  +upstreamnt  +downstreamnt
atgcaggccaaaaaacgctatttcatcctgctctcagctggctcttgtctcgcccttttg
ttttatttcggaggcttgcagtttagggcatcgaggagccacagccggagagaagaacac
agcggtaggaatggcttgcaccaccccagtccggatcatttctggccccgcttcccggac
gctctgcgccccttcgttccttgggatcaattggaaaacgaggattccagcgtgcacatt
tccccccggcagaagcgagatgccaactccagcatctacaaaggcaagaagtgccgcatg
gagtcctgcttcgatttcaccctttgcaagaaaaacggcttcaaagtctacgtataccca
cagcaaaaaggggagaaaatcgccgaaagttaccaaaacattctagcggccatcgagggc
tccaggttctacacctcggaccccagccaggcgtgcctctttgtcctgagtctggatact
ttagacagagaccagttgtcacctcagtatgtgcacaatttgagatccaaagtgcagagt
ctccacttgtggaacaatggtaggaatcatttaatttttaatttatattccggcacttgg
cctgactacaccgaggacgtggggtttgacatcggccaggcgatgctggccaaagccagc
atcagtactgaaaacttccgacccaactttgatgtttctattcccctcttttctaaggat
catcccaggacaggaggggagagggggtttttgaagttcaacaccatccctcctctcagg
aagtacatgctggtattcaaggggaagaggtacctgacagggataggatcagacaccagg
aatgccttatatcacgtccataacggggaggacgttgtgctcctcaccacctgcaagcat
ggcaaagactggcaaaagcacaaggattctcgctgtgacagagacaacaccgagtatgag
aagtatgattatcgggaaatgctgcacaatgccactttctgtctggttcctcgtggtcgc
aggcttgggtccttcagattcctggaggctttgcaggctgcctgcgtccctgtgatgctc
agcaatggatgggagttgccattctctgaagtgattaattggaaccaagctgccgtcata
ggcgatgagagattgttattacagattccttctacaatcaggtctattcatcaggataaa
atcctagcacttagacagcagacacaattcttgtgggaggcttatttttcttcagttgag
aagattgtattaactacactagagattattcaggacagaatattcaagcacatatcacgt
aacagtttaatatggaacaaacatcctggaggattgttcgtactaccacagtattcatct
tatctgggagattttccttactactatgctaatttaggtttaaagcccccctccaaattc
actgcagtcatccatgcggtgacccccctggtctctcagtcccagccagtgttgaagctt
ctcgtggctgcagccaagtcccagtactgtgcccagatcatagttctatggaattgtgac
aagcccctaccagccaaacaccgctggcctgccactgctgtgcctgtcgtcgtcattgaa
ggagagagcaaggttatgagcagccgttttctgccctacgacaacatcatcacagacgcc
gtgctcagccttgacgaggacacggtgctttcaacaacagaggtggatttcgccttcaca
gtgtggcagagcttccctgagaggattgtggggtaccccgcgcgcagccacttctgggat
aactctaaggagcggtggggatacacatcaaagtggacgaacgactactccatggtgttg
acaggagctgctatttaccacaaatattatcactacctatactcccattacctgccagcc
agcctgaagaacatggtggaccaattggccaattgtgaggacattctcatgaacttcctg
gtgtctgctgtgacaaaattgcctccaatcaaagtgacccagaagaagcagtataaggag
acaatgatgggacagacttctcgggcttcccgttgggctgaccctgaccactttgcccag
cgacagagctgcatgaatacgtttgccagctggtttggctacatgccgctgatccactct
cagatgaggctcgaccccgtcctctttaaagaccaggtctctattttgaggaagaaatac
cgagacattgagcgactttga

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