Sequence of XYLT1_HUMAN
EC Number:2.4.2.26
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
UDP-alpha-D-xylose + [protein]-L-serine = UDP + [protein]-3-O-(beta-D-xylosyl)-L-serine
Other sequences found for EC No. 2.4.2.26
General information:
Sequence
0 MVAAPCARRL ARRSHSALLA ALTVLLLQTL VVWNFSSLDS GAGERRGGAA VGGGEQPPPA
60 PAPRRERRDL PAEPAAARGG GGGGGGGGGG RGPQARARGG GPGEPRGQQP ASRGALPARA
120 LDPHPSPLIT LETQDGYFSH RPKEKVRTDS NNENSVPKDF ENVDNSNFAP RTQKQKHQPE
180 LAKKPPSRQK ELLKRKLEQQ EKGKGHTFPG KGPGEVLPPG DRAAANSSHG KDVSRPPHAR
240 KTGGSSPETK YDQPPKCDIS GKEAISALSR AKSKHCRQEI GETYCRHKLG LLMPEKVTRF
300 CPLEGKANKN VQWDEDSVEY MPANPVRIAF VLVVHGRASR QLQRMFKAIY HKDHFYYIHV
360 DKRSNYLHRQ VLQVSRQYSN VRVTPWRMAT IWGGASLLST YLQSMRDLLE MTDWPWDFFI
420 NLSAADYPIR TNDQLVAFLS RYRDMNFLKS HGRDNARFIR KQGLDRLFLE CDAHMWRLGD
480 RRIPEGIAVD GGSDWFLLNR RFVEYVTFST DDLVTKMKQF YSYTLLPAES FFHTVLENSP
540 HCDTMVDNNL RITNWNRKLG CKCQYKHIVD WCGCSPNDFK PQDFHRFQQT ARPTFFARKF
600 EAVVNQEIIG QLDYYLYGNY PAGTPGLRSY WENVYDEPDG IHSLSDVTLT LYHSFARLGL
660 RRAETSLHTD GENSCRYYPM GHPASVHLYF LADRFQGFLI KHHATNLAVS KLETLETWVM
720 PKKVFKIASP PSDFGRLQFS EVGTDWDAKE RLFRNFGGLL GPMDEPVGMQ KWGKGPNVTV
780 TVIWVDPVNV IAATYDILIE STAEFTHYKP PLNLPLRPGV WTVKILHHWV PVAETKFLVA
840 PLTFSNRQPI KPEEALKLHN GPLRNAYMEQ SFQSLNPVLS LPINPAQVEQ ARRNAASTGT
900 ALEGWLDSLV GGMWTAMDIC ATGPTACPVM QTCSQTAWSS FSPDPKSELG AVKPDGRLR
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
502087
Mueller S.,Schoettler M.,Schoen S.,Prante C.,Brinkmann T.,Kuhn J.,Goetting C.,Kleesiek K.
Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity.
Biochem. J.
386
227-236
2005
502088
Goetting C.,Kuhn J.,Zahn R.,Brinkmann T.,Kleesiek K.
Molecular cloning and expression of human UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase and its first isoform XT-II.
J. Mol. Biol.
304
517-528
2000
502089
Kuhn J.,Goetting C.,Schnoelzer M.,Kempf T.,Brinkmann T.,Kleesiek K.
First isolation of human UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase secreted from cultured JAR choriocarcinoma cells.
J. Biol. Chem.
276
4940-4947
2001
502090
Goetting C.,Kuhn J.,Brinkmann T.,Kleesiek K.
Xylosyltransferase activity in seminal plasma of infertile men.
Clin. Chim. Acta
317
199-202
2002
502091
Goetting C.,Mueller S.,Schoettler M.,Schoen S.,Prante C.,Brinkmann T.,Kuhn J.,Kleesiek K.
Analysis of the DXD motifs in human xylosyltransferase I required for enzyme activity.
J. Biol. Chem.
279
42566-42573
2004
502092
Poenighaus C.,Ambrosius M.,Casanova J.C.,Prante C.,Kuhn J.,Esko J.D.,Kleesiek K.,Goetting C.
Human xylosyltransferase II is involved in the biosynthesis of the uniform tetrasaccharide linkage region in chondroitin sulfate and heparan sulfate proteoglycans.
J. Biol. Chem.
282
5201-5206
2007
502093
Briggs D.C.,Hohenester E.
Structural Basis for the Initiation of Glycosaminoglycan Biosynthesis by Human Xylosyltransferase 1.
Structure
0
0-0
2018
502094
Schon S.,Schulz V.,Prante C.,Hendig D.,Szliska C.,Kuhn J.,Kleesiek K.,Gotting C.
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.
J. Med. Genet.
43
745-749
2006
502095
Bui C.,Huber C.,Tuysuz B.,Alanay Y.,Bole-Feysot C.,Leroy J.G.,Mortier G.,Nitschke P.,Munnich A.,Cormier-Daire V.
XYLT1 mutations in Desbuquois dysplasia type 2.
Am. J. Hum. Genet.
94
405-414
2014
502096
Schreml J.,Durmaz B.,Cogulu O.,Keupp K.,Beleggia F.,Pohl E.,Milz E.,Coker M.,Ucar S.K.,Nurnberg G.,Nurnberg P.,Kuhn J.,Ozkinay F.
The missing 'link': an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Hum. Genet.
133
29-39
2014
502097
Al-Jezawi N.K.,Ali B.R.,Al-Gazali L.
Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.
Am. J. Med. Genet. A
173
1773-1781
2017
