XYLT1_HUMAN » Xylosyltransferase 1

XYLT1_HUMAN » Xylosyltransferase 1
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Topology in Golgi apparatus membrane
TopologyGolgi lumenal side
cytoplasmic side
XYLT1_HUMAN » Xylosyltransferase 1 » Peptide O-xylosyltransferase 1;Xylosyltransferase I;XT-I; XylT-I;
Hydrophobic Thickness 29.4 ± 3.5 Å
Tilt Angle 2 ± 5°
ΔGtransfer -17.0 kcal/mol
ΔGfold -13.3 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, HMDB
Topology In
TM Segments 17-37 (15-38)
Pathways

chondroitin sulfate biosynthesis (BioCyc)

dermatan sulfate biosynthesis (BioCyc)

glycoaminoglycan-protein linkage region biosynthesis (BioCyc)

Glycosaminoglycan biosynthesis (KEGG)

Glycosaminoglycan biosynthesis (KEGG)

heparan sulfate biosynthesis (BioCyc)

PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 328-583, PDBID: 2GAK, Subunit B, Seq Identity:23%, Core-2/I-Branching enzyme

AA: 613-793, Xylosyltransferase C terminal

UniProt annotation for XYLT1_HUMAN » Xylosyltransferase 1
FUNCTION: Catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes.

CATALYTIC ACTIVITY: Transfers a beta-D-xylosyl residue from UDP-D- xylose to the serine hydroxy group of an acceptor protein substrate.

SUBUNIT: Monomer.

TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in placenta, kidney and pancreas. Weakly expressed in skeletal muscle.

DISEASE: Desbuquois dysplasia 2 (DBQD2) OMIM: A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a "Swedish key" appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. Note=The disease is caused by mutations affecting the gene represented in this entry.

MISCELLANEOUS: Activity is strongly reduced in seminal plasma of unfertile men.

UniProt features for XYLT1_HUMAN » Xylosyltransferase 1
CHAIN 1 959 Xylosyltransferase 1.
Amino Acid Sequence for XYLT1_HUMAN » Xylosyltransferase 1
MVAAPCARRL ARRSHSALLA ALTVLLLQTL VVWNFSSLDS GAGERRGGAA VGGGEQPPPA PAPRRERRDL PAEPAAARGG GGGGGGGGGG RGPQARARGG GPGEPRGQQP ASRGALPARA LDPHPSPLIT LETQDGYFSH RPKEKVRTDS NNENSVPKDF ENVDNSNFAP RTQKQKHQPE LAKKPPSRQK ELLKRKLEQQ EKGKGHTFPG KGPGEVLPPG DRAAANSSHG KDVSRPPHAR KTGGSSPETK YDQPPKCDIS GKEAISALSR AKSKHCRQEI GETYCRHKLG LLMPEKVTRF CPLEGKANKN VQWDEDSVEY MPANPVRIAF VLVVHGRASR QLQRMFKAIY HKDHFYYIHV DKRSNYLHRQ VLQVSRQYSN VRVTPWRMAT IWGGASLLST YLQSMRDLLE MTDWPWDFFI NLSAADYPIR TNDQLVAFLS RYRDMNFLKS HGRDNARFIR KQGLDRLFLE CDAHMWRLGD RRIPEGIAVD GGSDWFLLNR RFVEYVTFST DDLVTKMKQF YSYTLLPAES FFHTVLENSP HCDTMVDNNL RITNWNRKLG CKCQYKHIVD WCGCSPNDFK PQDFHRFQQT ARPTFFARKF EAVVNQEIIG QLDYYLYGNY PAGTPGLRSY WENVYDEPDG IHSLSDVTLT LYHSFARLGL RRAETSLHTD GENSCRYYPM GHPASVHLYF LADRFQGFLI KHHATNLAVS KLETLETWVM PKKVFKIASP PSDFGRLQFS EVGTDWDAKE RLFRNFGGLL GPMDEPVGMQ KWGKGPNVTV TVIWVDPVNV IAATYDILIE STAEFTHYKP PLNLPLRPGV WTVKILHHWV PVAETKFLVA PLTFSNRQPI KPEEALKLHN GPLRNAYMEQ SFQSLNPVLS LPINPAQVEQ ARRNAASTGT ALEGWLDSLV GGMWTAMDIC ATGPTACPVM QTCSQTAWSS FSPDPKSELG AVKPDGRLR