KEGG   Homo sapiens (human): 29940
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)
SSDB
Motif
Pfam: DUF4962 SYF2
Other DBs
NCBI-GeneID: 29940
NCBI-ProteinID: NP_001074445
OMIM: 605942
HGNC: 21144
Ensembl: ENSG00000111817
UniProt: Q9UL01
Structure
Position
6:116254171..116444861
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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Network (2)   
   KEGG NETWORK (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (2)   
   KEGG COMPOUND (2)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (14)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (55)   
   RefSeq(nuc) (17)   
   GenBank (19)   
   EMBL (19)   
3D Structure (1)   
   PDB (1)   
Protein domain (2)   
   Pfam (2)   
All databases (99)   

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