Homo sapiens (human): 29940
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Entry
29940 CDS
T01001
Symbol
DSE, DS-epi1, DSEP, DSEPI, EDSMC2, SART-2, SART2
Name
(RefSeq) dermatan sulfate epimerase
KO
K01794
chondroitin-glucuronate 5-epimerase [EC:
5.1.3.19
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00532
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
hsa01100
Metabolic pathways
Network
nt06029
Glycosaminoglycan biosynthesis
Element
N01581
Dermatan sulfate biosynthesis
Disease
H02246
Ehlers-Danlos syndrome musculocontractural type
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09107 Glycan biosynthesis and metabolism
00532 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
29940 (DSE)
Enzymes [BR:
hsa01000
]
5. Isomerases
5.1 Racemases and epimerases
5.1.3 Acting on carbohydrates and derivatives
5.1.3.19 chondroitin-glucuronate 5-epimerase
29940 (DSE)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
DUF4962
SYF2
Motif
Other DBs
NCBI-GeneID:
29940
NCBI-ProteinID:
NP_001074445
OMIM:
605942
HGNC:
21144
Ensembl:
ENSG00000111817
UniProt:
Q9UL01
Structure
PDB
LinkDB
All DBs
Position
6:116254171..116444861
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AA seq
958 aa
AA seq
DB search
MRTHTRGAPSVFFIYLLCFVSAYITDENPEVMIPFTNANYDSHPMLYFSRAEVAELQLRA
ASSHEHIAARLTEAVHTMLSSPLEYLPPWDPKDYSARWNEIFGNNLGALAMFCVLYPENI
EARDMAKDYMERMAAQPSWLVKDAPWDEVPLAHSLVGFATAYDFLYNYLSKTQQEKFLEV
IANASGYMYETSYRRGWGFQYLHNHQPTNCMALLTGSLVLMNQGYLQEAYLWTKQVLTIM
EKSLVLLREVTDGSLYEGVAYGSYTTRSLFQYMFLVQRHFNINHFGHPWLKQHFAFMYRT
ILPGFQRTVAIADSNYNWFYGPESQLVFLDKFVMRNGSGNWLADQIRRNRVVEGPGTPSK
GQRWCTLHTEFLWYDGSLKSVPPPDFGTPTLHYFEDWGVVTYGSALPAEINRSFLSFKSG
KLGGRAIYDIVHRNKYKDWIKGWRNFNAGHEHPDQNSFTFAPNGVPFITEALYGPKYTFF
NNVLMFSPAVSKSCFSPWVGQVTEDCSSKWSKYKHDLAASCQGRVVAAEEKNGVVFIRGE
GVGAYNPQLNLKNVQRNLILLHPQLLLLVDQIHLGEESPLETAASFFHNVDVPFEETVVD
GVHGAFIRQRDGLYKMYWMDDTGYSEKATFASVTYPRGYPYNGTNYVNVTMHLRSPITRA
AYLFIGPSIDVQSFTVHGDSQQLDVFIATSKHAYATYLWTGEATGQSAFAQVIADRHKIL
FDRNSAIKSSIVPEVKDYAAIVEQNLQHFKPVFQLLEKQILSRVRNTASFRKTAERLLRF
SDKRQTEEAIDRIFAISQQQQQQSKSKKNRRAGKRYKFVDAVPDIFAQIEVNEKKIRQKA
QILAQKELPIDEDEEMKDLLDFADVTYEKHKNGGLIKGRFGQARMVTTTHSRAPSLSASY
TRLFLILNIAIFFVMLAMQLTYFQRAQSLHGQRCLYAVLLIDSCILLWLYSSCSQSQC
NT seq
2877 nt
NT seq
+upstream
nt +downstream
nt
atgaggactcacacacggggggctcccagtgtgtttttcatatatttgctttgctttgtg
tcagcctacatcaccgacgagaacccagaagttatgattcccttcaccaatgccaactac
gacagccatcccatgctgtacttctccagggcagaagtggcggagctgcagctcagggct
gccagctcgcacgagcacattgcagcccgcctcacggaggctgtgcacacgatgctgtcc
agccccttggaatacctccctccctgggatcccaaggactacagtgcccgctggaatgaa
atttttggaaacaacttgggtgccttggcaatgttctgtgtgctgtatcctgagaacatt
gaagcccgagacatggccaaagactacatggagaggatggcagcgcagcctagttggttg
gtgaaagatgctccttgggatgaggtcccgcttgctcactccctggttggttttgccact
gcttatgacttcttgtacaactacctgagcaagacacaacaggagaagtttcttgaagtg
attgccaatgcctcagggtatatgtatgaaacttcatacaggagaggatggggatttcaa
tacctgcacaatcatcagcccaccaactgtatggctttgctcacgggaagcctagtcctg
atgaatcaaggatatcttcaagaagcctacttatggaccaaacaagttctgaccatcatg
gagaaatctctggtcttgctcagggaggtgacggatggctccctctatgaaggagttgcg
tatggcagctacaccactagatcactcttccaatacatgtttctcgtccagaggcacttc
aacatcaaccactttggccatccgtggcttaaacaacactttgcatttatgtatagaacc
atcctgccagggtttcaaaggactgtggctattgcggactcaaattacaactggttttat
ggtccagaaagccaattagtgttccttgataaatttgtcatgcgtaatggcagtggtaac
tggctagctgaccaaatcagaaggaaccgtgtggtggaaggtccaggaacaccatccaaa
gggcagcgctggtgcactctgcacacagaatttctctggtatgatggcagcttgaaatcg
gttcctcctccagactttggcacccctacactgcattattttgaagactggggtgtcgtg
acttatggaagtgcactacctgcagaaatcaatagatctttcctttccttcaagtctgga
aaactggggggacgtgcaatatatgacattgtccacagaaacaaatacaaagattggatc
aaaggatggagaaattttaatgcagggcatgaacatcctgatcaaaactcatttactttt
gctcccaatggtgtgcctttcattactgaggctctgtacgggccaaagtacaccttcttc
aacaatgttttgatgttttccccagctgtgtcaaagagctgcttttctccctgggtgggt
caggtcacagaagactgctcatcaaaatggtctaaatacaagcatgacctggcagctagt
tgtcaggggagggtggttgcagcagaggagaaaaatggggtggttttcatccgaggagaa
ggtgtgggagcttataacccccagctcaacctgaagaatgttcagaggaatctcatcctc
ctacatccacagctgcttctccttgtagaccaaatacacctgggagaggagagtcccttg
gagacagcagcgagcttcttccataatgtggatgttccttttgaggagactgtggtagat
ggtgtccatggggctttcatcaggcagagagatggtctctataaaatgtactggatggac
gatactggctacagcgagaaagcaacctttgcctcagtgacatatcctcggggctatccc
tacaatgggacaaactatgtgaatgtcaccatgcacctccgaagtcccatcaccagggca
gcttacctcttcatagggccatctatagatgttcagagcttcactgtccacggagactct
cagcaactggatgtgttcatagccaccagcaaacatgcctacgccacatacctgtggaca
ggtgaggccacaggacagtctgcctttgcacaggtcattgctgatcgtcacaaaattctg
tttgaccggaattcagccatcaagagcagcattgtccctgaggtgaaggactatgctgct
attgtggaacagaacttgcagcattttaaaccagtgtttcagctgctggagaagcagata
ctgtcccgagtccggaacacagctagctttaggaagactgctgaacgcctgctgagattt
tcagataagagacagactgaggaggccattgacaggatttttgccatatcacagcaacag
cagcagcaaagcaagtcaaagaaaaaccgaagggcaggcaaacgctataaatttgtggat
gctgtccctgatatttttgcacagattgaagtcaatgagaaaaagattagacagaaagct
cagattttggcacagaaagaactacccatagatgaagatgaagaaatgaaagacctttta
gattttgcagatgtaacatacgagaaacataaaaatgggggcttgattaaaggccggttt
ggacaggcacggatggtgacaactacacacagcagggccccatcactgtctgcttcctat
accaggttgttcctgattctgaacattgctattttctttgtcatgttggcaatgcaactg
acttatttccagagggcccagagcctacatggccaaagatgtctttatgcagttcttctc
atagatagctgtattttattatggttgtactcttcttgttcccaatcacagtgttag
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