DSE
entrez
29940
canonical
uniprot
Q9UL01
canonical
ensembl
ENSG00000111817
resolver
ensp
ENSP00000332151
resolver
ensp
ENSP00000352567
resolver
ensp
ENSP00000404049
resolver
ensp
ENSP00000494147
resolver
ensp
ENSP00000495184
resolver
ensp
ENSP00000495970
resolver
ensp
ENSP00000561601
resolver
ensp
ENSP00000561602
resolver
ensp
ENSP00000561603
resolver
ensp
ENSP00000621055
resolver
ensp
ENSP00000621056
resolver
ensp
ENSP00000621057
resolver
ensp
ENSP00000621058
resolver
ensp
ENSP00000621059
resolver
ensp
ENSP00000799611
resolver
enst
ENST00000331677
resolver
enst
ENST00000359564
resolver
enst
ENST00000452085
resolver
enst
ENST00000644252
resolver
enst
ENST00000646710
resolver
enst
ENST00000647244
resolver
enst
ENST00000891542
resolver
enst
ENST00000891543
resolver
enst
ENST00000891544
resolver
enst
ENST00000950996
resolver
enst
ENST00000950997
resolver
enst
ENST00000950998
resolver
enst
ENST00000950999
resolver
enst
ENST00000951000
resolver
genesymbol
DSE
resolver
genesymbol_syn
SART2
resolver
hgnc
HGNC:21144
resolver
uniprot
A0A2R8YE23
resolver
uniprot
A0A2U3TZJ0
resolver
uniprot
B3KY37
resolver
uniprot
B7Z1T3
resolver
uniprot
B7Z765
resolver
uniprot
Q5R3K6
resolver
uniprot_entry
A0A2R8YE23_HUMAN
resolver
uniprot_entry
A0A2U3TZJ0_HUMAN
resolver
uniprot_entry
B3KY37_HUMAN
resolver
uniprot_entry
B7Z1T3_HUMAN
resolver
uniprot_entry
B7Z765_HUMAN
resolver
uniprot_entry
DSE_HUMAN
resolver
uniprot_sec
Q5R3K6
resolver
amino_acid_sequence
MRTHTRGAPSVFFIYLLCFVSAYITDENPEVMIPFTNANYDSHPMLYFSRAEVAELQLRAASSHEHIAARLTEAVHTMLSSPLEYLPPWDPKDYSARWNEIFGNNLGALAMFCVLYPENIEARDMAKDYMERMAAQPSWLVKDAPWDEVPLAHSLVGFATAYDFLYNYLSKTQQEKFLEVIANASGYMYETSYRRGWGFQYLHNHQPTNCMALLTGSLVLMNQGYLQEAYLWTKQVLTIMEKSLVLLREVTDGSLYEGVAYGSYTTRSLFQYMFLVQRHFNINHFGHPWLKQHFAFMYRTILPGFQRTVAIADSNYNWFYGPESQLVFLDKFVMRNGSGNWLADQIRRNRVVEGPGTPSKGQRWCTLHTEFLWYDGSLKSVPPPDFGTPTLHYFEDWGVVTYGSALPAEINRSFLSFKSGKLGGRAIYDIVHRNKYKDWIKGWRNFNAGHEHPDQNSFTFAPNGVPFITEALYGPKYTFFNNVLMFSPAVSKSCFSPWVGQVTEDCSSKWSKYKHDLAASCQGRVVAAEEKNGVVFIRGEGVGAYNPQLNLKNVQRNLILLHPQLLLLVDQIHLGEESPLETAASFFHNVDVPFEETVVDGVHGAFIRQRDGLYKMYWMDDTGYSEKATFASVTYPRGYPYNGTNYVNVTMHLRSPITRAAYLFIGPSIDVQSFTVHGDSQQLDVFIATSKHAYATYLWTGEATGQSAFAQVIADRHKILFDRNSAIKSSIVPEVKDYAAIVEQNLQHFKPVFQLLEKQILSRVRNTASFRKTAERLLRFSDKRQTEEAIDRIFAISQQQQQQSKSKKNRRAGKRYKFVDAVPDIFAQIEVNEKKIRQKAQILAQKELPIDEDEEMKDLLDFADVTYEKHKNGGLIKGRFGQARMVTTTHSRAPSLSASYTRLFLILNIAIFFVMLAMQLTYFQRAQSLHGQRCLYAVLLIDSCILLWLYSSCSQSQC
uniprot
proteins
disease_involvement
DISEASE: Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) [MIM:615539]: A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood. {ECO:0000269|PubMed:23704329}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.1.3.19
uniprot
proteins
function
FUNCTION: Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. Plays an important role in the biosynthesis of the glycosaminoglycan/mucopolysaccharide dermatan sulfate. {ECO:0000269|PubMed:16505484, ECO:0000269|PubMed:19004833, ECO:0000269|PubMed:7092807, ECO:0000269|Ref.7}.
uniprot
proteins
mass_dalton
109773
uniprot
proteins
mutagenesis
MUTAGEN 98; /note="W->A: Severely impairs catalytic activity."; /evidence="ECO:0000269|Ref.7"; MUTAGEN 147; /note="D->A: Impairs catalytic activity."; /evidence="ECO:0000269|Ref.7"; MUTAGEN 203; /note="H->A,N: Severely impairs catalytic activity."; /evidence="ECO:0000269|PubMed:19004833"; MUTAGEN 205; /note="H->A,N: Abolishes catalytic activity."; /evidence="ECO:0000269|PubMed:19004833"; MUTAGEN 256; /note="Y->A: Moderately reduced catalytic activity."; /evidence="ECO:0000269|PubMed:19004833"; MUTAGEN 261; /note="Y->A,F: Abolishes catalytic activity."; /evidence="ECO:0000269|PubMed:19004833"; MUTAGEN 331; /note="K->A: No significant effect on catalytic activity."; /evidence="ECO:0000269|PubMed:19004833"; MUTAGEN 383; /note="P->A: Very low levels of protein expression and no detectable catalytic activity."; /evidence="ECO:0000269|Ref.7"; MUTAGEN 450; /note="H->A,N: Abolishes catalytic activity."; /evidence="ECO:0000269|PubMed:19004833"; MUTAGEN 452; /note="H->A: Abolishes catalytic activity."; /evidence="ECO:0000269|Ref.7"; MUTAGEN 470; /note="E->A: Abolishes catalytic activity."; /evidence="ECO:0000269|Ref.7"; MUTAGEN 473; /note="Y->A: Abolishes catalytic activity."; /evidence="ECO:0000269|Ref.7
uniprot
proteins
pathway_participation
PATHWAY: Glycan metabolism; chondroitin sulfate biosynthesis. {ECO:0000305|PubMed:16505484, ECO:0000305|PubMed:19004833, ECO:0000305|PubMed:7092807, ECO:0000305|Ref.7}.; PATHWAY: Glycan metabolism; heparan sulfate biosynthesis. {ECO:0000305|PubMed:16505484, ECO:0000305|PubMed:19004833, ECO:0000305|PubMed:7092807, ECO:0000305|Ref.7}.
uniprot
proteins
post_translational_modification
PTM: N-glycosylated (PubMed:19004833, Ref.7). Glycosylation is important for enzymatic activity (PubMed:19004833). {ECO:0000269|PubMed:19004833, ECO:0000269|Ref.7}.
uniprot
proteins
protein_family
Dermatan-sulfate isomerase family
uniprot
proteins
pubmed
10679095
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16505484
uniprot
proteins
pubmed
19004833
uniprot
proteins
pubmed
23704329
uniprot
proteins
pubmed
7092807
uniprot
proteins
sequence_length
958
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10679095, ECO:0000305|PubMed:7092807}; Multi-pass membrane protein {ECO:0000305}. Golgi apparatus membrane {ECO:0000269|PubMed:10679095}; Multi-pass membrane protein {ECO:0000305}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:10679095}; Multi-pass membrane protein {ECO:0000305}. Microsome membrane {ECO:0000269|PubMed:7092807}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 903..923; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 934..954; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins