KEGG   Homo sapiens (human): 29940
Entry
29940             CDS       T01001                                 

Gene name
DSE, DS-epi1, DSEP, DSEPI, EDSMC2, SART-2, SART2
Definition
(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
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)
SSDB
Motif
Pfam: DUF4962 SYF2
Other DBs
NCBI-GeneID: 29940
NCBI-ProteinID: NP_001074445
OMIM: 605942
HGNC: 21144
Ensembl: ENSG00000111817
Vega: OTTHUMG00000015434
Pharos: Q9UL01(Tbio)
UniProt: Q9UL01
Position
6q22.1
AA seq 958 aa
MRTHTRGAPSVFFIYLLCFVSAYITDENPEVMIPFTNANYDSHPMLYFSRAEVAELQLRA
ASSHEHIAARLTEAVHTMLSSPLEYLPPWDPKDYSARWNEIFGNNLGALAMFCVLYPENI
EARDMAKDYMERMAAQPSWLVKDAPWDEVPLAHSLVGFATAYDFLYNYLSKTQQEKFLEV
IANASGYMYETSYRRGWGFQYLHNHQPTNCMALLTGSLVLMNQGYLQEAYLWTKQVLTIM
EKSLVLLREVTDGSLYEGVAYGSYTTRSLFQYMFLVQRHFNINHFGHPWLKQHFAFMYRT
ILPGFQRTVAIADSNYNWFYGPESQLVFLDKFVMRNGSGNWLADQIRRNRVVEGPGTPSK
GQRWCTLHTEFLWYDGSLKSVPPPDFGTPTLHYFEDWGVVTYGSALPAEINRSFLSFKSG
KLGGRAIYDIVHRNKYKDWIKGWRNFNAGHEHPDQNSFTFAPNGVPFITEALYGPKYTFF
NNVLMFSPAVSKSCFSPWVGQVTEDCSSKWSKYKHDLAASCQGRVVAAEEKNGVVFIRGE
GVGAYNPQLNLKNVQRNLILLHPQLLLLVDQIHLGEESPLETAASFFHNVDVPFEETVVD
GVHGAFIRQRDGLYKMYWMDDTGYSEKATFASVTYPRGYPYNGTNYVNVTMHLRSPITRA
AYLFIGPSIDVQSFTVHGDSQQLDVFIATSKHAYATYLWTGEATGQSAFAQVIADRHKIL
FDRNSAIKSSIVPEVKDYAAIVEQNLQHFKPVFQLLEKQILSRVRNTASFRKTAERLLRF
SDKRQTEEAIDRIFAISQQQQQQSKSKKNRRAGKRYKFVDAVPDIFAQIEVNEKKIRQKA
QILAQKELPIDEDEEMKDLLDFADVTYEKHKNGGLIKGRFGQARMVTTTHSRAPSLSASY
TRLFLILNIAIFFVMLAMQLTYFQRAQSLHGQRCLYAVLLIDSCILLWLYSSCSQSQC
NT seq 2877 nt   +upstreamnt  +downstreamnt
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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