KEGG   Homo sapiens (human): 2137Help
Entry
2137              CDS       T01001                                 

Gene name
EXTL3, BOTV, EXTL1L, EXTR1, ISDNA, REGR, RPR
Definition
(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
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Glycan biosynthesis and metabolism
   00534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin
    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 OrthologParalogGFIT
Motif
Pfam: Glyco_transf_64 Exostosin TPR_MLP1_2 DUF1664 ADIP Seryl_tRNA_N THOC7 MscS_porin Jnk-SapK_ap_N DUF812 EzrA Tropomyosin_1 Bap31 Atg14 CAMSAP_CC1 TMPIT
Motif
Other DBs
NCBI-GeneID: 2137
NCBI-ProteinID: NP_001431
OMIM: 605744
HGNC: 3518
Ensembl: ENSG00000012232
Vega: OTTHUMG00000102146
Pharos: O43909(Tbio)
UniProt: O43909
Position
8p21.1
AA seq 919 aa AA seqDB search
MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEA
GKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKS
IENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLH
NCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVI
LVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQ
STFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEA
RSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGERED
RLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNE
AALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQI
PAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDF
YRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPR
EQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRT
EKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDI
PHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLV
SHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVD
SVLFKTRLPHDKTKCFKFI
NT seq 2760 nt NT seq  +upstreamnt  +downstreamnt
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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