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Protein

Xylosyltransferase 1

Gene

XYLT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 activityi

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

Cofactori

a divalent metal cation2 Publications

Kineticsi

  1. KM=0.9 µM for recombinant bikunin2 Publications
  1. Vmax=764 pmol/h/mg enzyme with recombinant bikunin as substrate2 Publications

Pathwayi: chondroitin sulfate biosynthesis

This protein is involved in the pathway chondroitin sulfate biosynthesis, which is part of Glycan metabolism.
View all proteins of this organism that are known to be involved in the pathway chondroitin sulfate biosynthesis and in Glycan metabolism.

Pathwayi: heparan sulfate biosynthesis

This protein is involved in the pathway heparan sulfate biosynthesis, which is part of Glycan metabolism.
View all proteins of this organism that are known to be involved in the pathway heparan sulfate biosynthesis and in Glycan metabolism.

GO - Molecular functioni

  • acetylglucosaminyltransferase activity Source: InterPro
  • protein xylosyltransferase activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciMetaCyc:HS02509-MONOMER.
ZFISH:HS02509-MONOMER.
BRENDAi2.4.2.26. 2681.
ReactomeiR-HSA-1971475. A tetrasaccharide linker sequence is required for GAG synthesis.
SignaLinkiQ86Y38.
UniPathwayiUPA00755.
UPA00756.

Protein family/group databases

CAZyiGT14. Glycosyltransferase Family 14.

Names & Taxonomyi

Protein namesi
Recommended name:
Xylosyltransferase 1 (EC:2.4.2.26)
Alternative name(s):
Peptide O-xylosyltransferase 1
Xylosyltransferase I
Short name:
XT-I
Short name:
XylT-I
Gene namesi
Name:XYLT1
Synonyms:XT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:15516. XYLT1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 17CytoplasmicSequence analysisAdd BLAST17
Transmembranei18 – 38Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini39 – 959LumenalSequence analysisAdd BLAST921

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Desbuquois dysplasia 2 (DBQD2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615777
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071273481R → W in DBQD2; loss of predominance of Golgi localization in mutant cells; DCN in cell culture supernatant demonstrates glycosylation differences between patient and control cells. 1 PublicationCorresponds to variant rs587777366dbSNPEnsembl.1
Natural variantiVAR_071274598R → C in DBQD2. 1 PublicationCorresponds to variant rs587777367dbSNPEnsembl.1
Pseudoxanthoma elasticum (PXE)1 Publication
The gene represented in this entry acts as a disease modifier.
Disease descriptionA multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings.
See also OMIM:264800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071271115A → S in PXE; acts as a modifier of disease severity; results in higher serum xylosyltransferase activity. 1 PublicationCorresponds to variant rs61758388dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi257C → A: No effect. 1 Publication1
Mutagenesisi276C → A: Strongly reduced enzyme activity. 1 Publication1
Mutagenesisi285C → A: No effect. 1 Publication1
Mutagenesisi301C → A: No effect. 1 Publication1
Mutagenesisi314D → G: No effect. 1 Publication1
Mutagenesisi316D → G: No effect. 1 Publication1
Mutagenesisi471C → A: Strongly reduced enzyme activity. 1 Publication1
Mutagenesisi542C → A: No effect. 1 Publication1
Mutagenesisi561C → A: Strongly reduced enzyme activity. 1 Publication1
Mutagenesisi563C → A: No effect. 1 Publication1
Mutagenesisi572C → A: Strongly reduced enzyme activity. 1 Publication1
Mutagenesisi574C → A: Strongly reduced enzyme activity. 1 Publication1
Mutagenesisi675C → A: No effect. 1 Publication1
Mutagenesisi745D → E: No effect. 1 Publication1
Mutagenesisi745D → G: Abolishes enzyme activity but does not affect UDP-binding. 1 Publication1
Mutagenesisi746W → D, N or G: Strongly reduced enzyme activity but does not affect UDP-binding. 1 Publication1
Mutagenesisi747D → G or E: Reduced enzyme activity but does not affect UDP-binding. 1 Publication1
Mutagenesisi920C → A: No effect. 1 Publication1
Mutagenesisi927C → A: No effect. 1 Publication1
Mutagenesisi933C → A: No effect. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi64131.
MalaCardsiXYLT1.
MIMi264800. phenotype.
615777. phenotype.
OpenTargetsiENSG00000103489.
Orphaneti1425. Desbuquois syndrome.
370930. XYLT1-CDG.
PharmGKBiPA37973.

Polymorphism and mutation databases

BioMutaiXYLT1.
DMDMi71164803.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001914001 – 959Xylosyltransferase 1Add BLAST959

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi226N-linked (GlcNAc...)Sequence analysis1
Glycosylationi421N-linked (GlcNAc...)Sequence analysis1
Glycosylationi777N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

Contains 7 disulfide bonds.
N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ86Y38.
MaxQBiQ86Y38.
PaxDbiQ86Y38.
PeptideAtlasiQ86Y38.
PRIDEiQ86Y38.

PTM databases

iPTMnetiQ86Y38.
PhosphoSitePlusiQ86Y38.

Expressioni

Tissue specificityi

Widely expressed. Expressed at higher level in placenta, kidney and pancreas. Weakly expressed in skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000103489.
CleanExiHS_XYLT1.
GenevisibleiQ86Y38. HS.

Organism-specific databases

HPAiHPA007478.
HPA007966.

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi122080. 3 interactors.
IntActiQ86Y38. 2 interactors.
STRINGi9606.ENSP00000261381.

Structurei

3D structure databases

ProteinModelPortaliQ86Y38.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0799. Eukaryota.
ENOG410XQ7M. LUCA.
GeneTreeiENSGT00760000119183.
HOGENOMiHOG000070086.
HOVERGENiHBG059443.
InParanoidiQ86Y38.
KOiK00771.
OMAiIGTEWDA.
OrthoDBiEOG091G020K.
PhylomeDBiQ86Y38.
TreeFamiTF315534.

Family and domain databases

InterProiIPR003406. Glyco_trans_14.
IPR024448. XylT.
[Graphical view]
PfamiPF02485. Branch. 1 hit.
PF12529. Xylo_C. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q86Y38-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVAAPCARRL ARRSHSALLA ALTVLLLQTL VVWNFSSLDS GAGERRGGAA
60 70 80 90 100
VGGGEQPPPA PAPRRERRDL PAEPAAARGG GGGGGGGGGG RGPQARARGG
110 120 130 140 150
GPGEPRGQQP ASRGALPARA LDPHPSPLIT LETQDGYFSH RPKEKVRTDS
160 170 180 190 200
NNENSVPKDF ENVDNSNFAP RTQKQKHQPE LAKKPPSRQK ELLKRKLEQQ
210 220 230 240 250
EKGKGHTFPG KGPGEVLPPG DRAAANSSHG KDVSRPPHAR KTGGSSPETK
260 270 280 290 300
YDQPPKCDIS GKEAISALSR AKSKHCRQEI GETYCRHKLG LLMPEKVTRF
310 320 330 340 350
CPLEGKANKN VQWDEDSVEY MPANPVRIAF VLVVHGRASR QLQRMFKAIY
360 370 380 390 400
HKDHFYYIHV DKRSNYLHRQ VLQVSRQYSN VRVTPWRMAT IWGGASLLST
410 420 430 440 450
YLQSMRDLLE MTDWPWDFFI NLSAADYPIR TNDQLVAFLS RYRDMNFLKS
460 470 480 490 500
HGRDNARFIR KQGLDRLFLE CDAHMWRLGD RRIPEGIAVD GGSDWFLLNR
510 520 530 540 550
RFVEYVTFST DDLVTKMKQF YSYTLLPAES FFHTVLENSP HCDTMVDNNL
560 570 580 590 600
RITNWNRKLG CKCQYKHIVD WCGCSPNDFK PQDFHRFQQT ARPTFFARKF
610 620 630 640 650
EAVVNQEIIG QLDYYLYGNY PAGTPGLRSY WENVYDEPDG IHSLSDVTLT
660 670 680 690 700
LYHSFARLGL RRAETSLHTD GENSCRYYPM GHPASVHLYF LADRFQGFLI
710 720 730 740 750
KHHATNLAVS KLETLETWVM PKKVFKIASP PSDFGRLQFS EVGTDWDAKE
760 770 780 790 800
RLFRNFGGLL GPMDEPVGMQ KWGKGPNVTV TVIWVDPVNV IAATYDILIE
810 820 830 840 850
STAEFTHYKP PLNLPLRPGV WTVKILHHWV PVAETKFLVA PLTFSNRQPI
860 870 880 890 900
KPEEALKLHN GPLRNAYMEQ SFQSLNPVLS LPINPAQVEQ ARRNAASTGT
910 920 930 940 950
ALEGWLDSLV GGMWTAMDIC ATGPTACPVM QTCSQTAWSS FSPDPKSELG

AVKPDGRLR
Length:959
Mass (Da):107,569
Last modified:June 1, 2003 - v1
Checksum:i056FC3F66EFD4D81
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071271115A → S in PXE; acts as a modifier of disease severity; results in higher serum xylosyltransferase activity. 1 PublicationCorresponds to variant rs61758388dbSNPEnsembl.1
Natural variantiVAR_049324325P → R.Corresponds to variant rs28709752dbSNPEnsembl.1
Natural variantiVAR_071272406R → W.1 PublicationCorresponds to variant rs201009902dbSNPEnsembl.1
Natural variantiVAR_071273481R → W in DBQD2; loss of predominance of Golgi localization in mutant cells; DCN in cell culture supernatant demonstrates glycosylation differences between patient and control cells. 1 PublicationCorresponds to variant rs587777366dbSNPEnsembl.1
Natural variantiVAR_071274598R → C in DBQD2. 1 PublicationCorresponds to variant rs587777367dbSNPEnsembl.1
Natural variantiVAR_071275665T → M.1 PublicationCorresponds to variant rs79030430dbSNPEnsembl.1
Natural variantiVAR_049325766P → A.Corresponds to variant rs12325439dbSNPEnsembl.1
Natural variantiVAR_049326839V → I.Corresponds to variant rs7200466dbSNPEnsembl.1
Natural variantiVAR_049327892R → Q.Corresponds to variant rs35309694dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ539163 mRNA. Translation: CAD62248.1.
AJ277441 mRNA. Translation: CAC16787.1.
CCDSiCCDS10569.1.
RefSeqiNP_071449.1. NM_022166.3.
UniGeneiHs.22907.

Genome annotation databases

EnsembliENST00000261381; ENSP00000261381; ENSG00000103489.
GeneIDi64131.
KEGGihsa:64131.
UCSCiuc002dfa.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ539163 mRNA. Translation: CAD62248.1.
AJ277441 mRNA. Translation: CAC16787.1.
CCDSiCCDS10569.1.
RefSeqiNP_071449.1. NM_022166.3.
UniGeneiHs.22907.

3D structure databases

ProteinModelPortaliQ86Y38.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122080. 3 interactors.
IntActiQ86Y38. 2 interactors.
STRINGi9606.ENSP00000261381.

Protein family/group databases

CAZyiGT14. Glycosyltransferase Family 14.

PTM databases

iPTMnetiQ86Y38.
PhosphoSitePlusiQ86Y38.

Polymorphism and mutation databases

BioMutaiXYLT1.
DMDMi71164803.

Proteomic databases

EPDiQ86Y38.
MaxQBiQ86Y38.
PaxDbiQ86Y38.
PeptideAtlasiQ86Y38.
PRIDEiQ86Y38.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261381; ENSP00000261381; ENSG00000103489.
GeneIDi64131.
KEGGihsa:64131.
UCSCiuc002dfa.4. human.

Organism-specific databases

CTDi64131.
DisGeNETi64131.
GeneCardsiXYLT1.
HGNCiHGNC:15516. XYLT1.
HPAiHPA007478.
HPA007966.
MalaCardsiXYLT1.
MIMi264800. phenotype.
608124. gene.
615777. phenotype.
neXtProtiNX_Q86Y38.
OpenTargetsiENSG00000103489.
Orphaneti1425. Desbuquois syndrome.
370930. XYLT1-CDG.
PharmGKBiPA37973.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0799. Eukaryota.
ENOG410XQ7M. LUCA.
GeneTreeiENSGT00760000119183.
HOGENOMiHOG000070086.
HOVERGENiHBG059443.
InParanoidiQ86Y38.
KOiK00771.
OMAiIGTEWDA.
OrthoDBiEOG091G020K.
PhylomeDBiQ86Y38.
TreeFamiTF315534.

Enzyme and pathway databases

UniPathwayiUPA00755.
UPA00756.
BioCyciMetaCyc:HS02509-MONOMER.
ZFISH:HS02509-MONOMER.
BRENDAi2.4.2.26. 2681.
ReactomeiR-HSA-1971475. A tetrasaccharide linker sequence is required for GAG synthesis.
SignaLinkiQ86Y38.

Miscellaneous databases

ChiTaRSiXYLT1. human.
GeneWikiiXYLT1.
GenomeRNAii64131.
PROiQ86Y38.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103489.
CleanExiHS_XYLT1.
GenevisibleiQ86Y38. HS.

Family and domain databases

InterProiIPR003406. Glyco_trans_14.
IPR024448. XylT.
[Graphical view]
PfamiPF02485. Branch. 1 hit.
PF12529. Xylo_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiXYLT1_HUMAN
AccessioniPrimary (citable) accession number: Q86Y38
Secondary accession number(s): Q9H1B6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: June 1, 2003
Last modified: November 2, 2016
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Activity is strongly reduced in seminal plasma of unfertile men.

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.