Homo sapiens (human): 2137
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Entry
2137 CDS
T01001
Symbol
EXTL3, BOTV, EXTL1L, EXTR1, ISDNA, REGR, RPR
Name
(RefSeq) exostosin like glycosyltransferase 3
KO
K02370
alpha-1,4-N-acetylglucosaminyltransferase EXTL3 [EC:
2.4.1.223
2.4.1.224
]
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
H02491
Immunoskeletal dysplasia with neurodevelopmental abnormalities
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin
2137 (EXTL3)
09180 Brite Hierarchies
09181 Protein families: metabolism
01003 Glycosyltransferases [BR:
hsa01003
]
2137 (EXTL3)
Enzymes [BR:
hsa01000
]
2. Transferases
2.4 Glycosyltransferases
2.4.1 Hexosyltransferases
2.4.1.223 glucuronosyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
2137 (EXTL3)
2.4.1.224 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
2137 (EXTL3)
Glycosyltransferases [BR:
hsa01003
]
Glycan extension
O-Glycan
2137 (EXTL3)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Glyco_transf_64
Exostosin
TPR_MLP1_2
ADIP
DUF1664
MscS_porin
Seryl_tRNA_N
EXOC6_Sec15_N
THOC7
CCDC22_CC
TBK1_CCD1
FapA
Motif
Other DBs
NCBI-GeneID:
2137
NCBI-ProteinID:
NP_001431
OMIM:
605744
HGNC:
3518
Ensembl:
ENSG00000012232
Pharos:
O43909
(Tbio)
UniProt:
O43909
A0A384NPY9
Structure
PDB
PDBj
LinkDB
All DBs
Position
8:28607736..28755599
Genome browser
AA seq
919 aa
AA seq
DB search
MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEA
GKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKS
IENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLH
NCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVI
LVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQ
STFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEA
RSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGERED
RLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNE
AALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQI
PAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDF
YRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPR
EQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRT
EKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDI
PHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLV
SHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVD
SVLFKTRLPHDKTKCFKFI
NT seq
2760 nt
NT seq
+upstream
nt +downstream
nt
atgacaggctataccatgctgcggaatgggggcgcggggaacggaggtcagacctgcatg
ctgcgctggtccaaccgcatccgcctcacgtggctcagcttcacgctctttgtcatcctg
gtcttcttcccgctcatcgcccactattacctcaccactctggatgaggctgatgaggca
ggcaagcggatttttggtccccgggtggggaacgagctgtgcgaggtgaagcacgtgctg
gatctgtgccgcatccgggagtcggtgagtgaagagctcctgcagctggaggccaagcgc
caagagctgaacagcgagatcgccaagctgaatctgaagatcgaagcctgtaagaagagc
attgagaacgccaagcaggacctgctccagctcaagaatgtcatcagccagaccgagcat
tcctacaaggagctcatggcccagaaccagcccaagctgtccctgcccatccgactgctc
ccagagaaggacgatgccggcctccctcccccgaaggccactcggggctgccggctacac
aactgctttgattattctcgttgccctctcacctctggcttcccggtctacgtctatgac
agtgaccagtttgtctttggcagctacctggatcccttggtcaagcaggcttttcaggcg
acagcacgagctaacgtttatgttacagaaaatgcagacatcgcctgcctttacgtgata
ctagtgggagagatgcaggagccggtggtgctgcggcctgctgagctggagaagcagttg
tattccctgccacactggcggacggatggacacaaccatgtcatcatcaatctgtcacgt
aagtcagatacacagaaccttctctataacgtcagtactggccgtgccatggtggcccag
tccaccttctacactgtccagtacagacctggctttgacttggtcgtatcaccgctggtc
catgccatgtctgagcccaacttcatggaaatcccaccacaggtgccggtgaagcggaaa
tatctcttcaccttccagggcgagaagattgagtctctgaggtctagccttcaggaggcc
cgctccttcgaagaggaaatggagggcgaccctcccgccgactacgatgaccggatcatt
gccaccctgaaggcggtgcaggacagcaagctggatcaggtcctggtggaattcacctgc
aaaaaccagcccaaacccagcctgccgactgagtgggcactgtgtggagagcgggaggac
cgcttggaattgctgaagctctccaccttcgccctcatcattacccccggggaccctcgc
ttggttatttcctctgggtgtgcaacacggctcttcgaagccctggaagtcggtgccgtc
ccggtggtgctgggggagcaggtccagcttccctaccaggacatgctgcagtggaacgag
gcggccctggtggtgccaaagcctcgtgttaccgaggttcatttcctgctcagaagcctc
tccgatagtgacctcctggctatgaggcggcaaggccgctttctctgggagacttacttc
tccactgctgacagtatttttaataccgtgctggctatgattaggactcgcatccagatc
ccagccgctcccatccgggaagaggcggcagctgagatcccccaccgttcaggcaaggcg
gctggaactgaccccaacatggctgacaacggggacctggacctggggccagtggagacg
gagccgccctacgcctcacccagatacctccgcaatttcactctgactgtcactgacttt
taccgcagctggaactgtgctccagggcctttccatcttttcccccacactccctttgac
cctgtgttgccctcagaggccaaattcttgggctcagggactggctttcggcctattggt
ggtggagctgggggttctggcaaggaatttcaggcagcgcttggaggcaatgttccccga
gagcagttcacggtggtgatgttgacttatgagcgggaggaagtgcttatgaactcttta
gagaggctgaatggcctcccttacctgaacaaggtcgtggtggtgtggaattctcccaag
ctgccatcagaggaccttctgtggcctgacattggcgtccccatcatggtggtccgtact
gagaagaacagtttgaacaaccgattcttaccctggaatgaaattgagacagaggccatc
ctgtccattgatgacgatgctcacctccgccatgacgaaatcatgtttgggttccgggtg
tggagagaagctcgggaccgcatcgtgggcttccctggccgttaccacgcatgggacatc
ccccatcagtcctggctctacaactccaactactcctgtgagctgtccatggtgctgaca
ggtgctgccttctttcacaagtattatgcctacctgtattcttatgtgatgccccaggcc
atccgggacatggtggatgaatacatcaactgtgaggacattgccatgaacttccttgtc
tcccacatcactcggaagccccccatcaaggtgacctcacggtggacattccgatgccca
ggatgccctcaggccctgtctcatgatgactcccacttccacgagcggcacaagtgcatc
aacttcttcgtgaaggtgtacggctacatgcccctcctgtacacgcagttcagggtggat
tctgtgctcttcaagacacgcctgccccatgacaagaccaagtgcttcaagttcatctag
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