Homo sapiens (human): 2131
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Entry
2131 CDS
T01001
Symbol
EXT1, EXT, LGCR, LGS, TRPS2, TTV
Name
(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
Network
nt06029
Glycosaminoglycan biosynthesis
Element
N01582
Heparan sulfate biosynthesis
Disease
H00122
Multiple exostoses
H00493
Heparan sulfate proteoglycan gene defects
H00977
Trichorhinophalangeal syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin
2131 (EXT1)
09180 Brite Hierarchies
09181 Protein families: metabolism
01003 Glycosyltransferases [BR:
hsa01003
]
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
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Glyco_transf_64
Exostosin
Motif
Other DBs
NCBI-GeneID:
2131
NCBI-ProteinID:
NP_000118
OMIM:
608177
HGNC:
3512
Ensembl:
ENSG00000182197
Pharos:
Q16394
(Tbio)
UniProt:
Q16394
Structure
PDB
LinkDB
All DBs
Position
8:complement(117794490..118111826)
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AA seq
746 aa
AA seq
DB search
MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPD
ALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYP
QQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQS
LHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKD
HPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKH
GKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVML
SNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVE
KIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKF
TAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIE
GESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWD
NSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFL
VSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHS
QMRLDPVLFKDQVSILRKKYRDIERL
NT seq
2241 nt
NT seq
+upstream
nt +downstream
nt
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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