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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.
BRENDAi2.4.2.26. 2681.
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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1717CytoplasmicSequence analysisAdd
BLAST
Transmembranei18 – 3821Helical; Signal-anchor for type II membrane proteinSequence analysisAdd
BLAST
Topological domaini39 – 959921LumenalSequence analysisAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti481 – 4811R → 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 Publication
Corresponds to variant rs587777366 [ dbSNP | Ensembl ].
VAR_071273
Natural varianti598 – 5981R → C in DBQD2. 1 Publication
Corresponds to variant rs587777367 [ dbSNP | Ensembl ].
VAR_071274
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti115 – 1151A → S in PXE; acts as a modifier of disease severity; results in higher serum xylosyltransferase activity. 1 Publication
Corresponds to variant rs61758388 [ dbSNP | Ensembl ].
VAR_071271

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi257 – 2571C → A: No effect. 1 Publication
Mutagenesisi276 – 2761C → A: Strongly reduced enzyme activity. 1 Publication
Mutagenesisi285 – 2851C → A: No effect. 1 Publication
Mutagenesisi301 – 3011C → A: No effect. 1 Publication
Mutagenesisi314 – 3141D → G: No effect. 1 Publication
Mutagenesisi316 – 3161D → G: No effect. 1 Publication
Mutagenesisi471 – 4711C → A: Strongly reduced enzyme activity. 1 Publication
Mutagenesisi542 – 5421C → A: No effect. 1 Publication
Mutagenesisi561 – 5611C → A: Strongly reduced enzyme activity. 1 Publication
Mutagenesisi563 – 5631C → A: No effect. 1 Publication
Mutagenesisi572 – 5721C → A: Strongly reduced enzyme activity. 1 Publication
Mutagenesisi574 – 5741C → A: Strongly reduced enzyme activity. 1 Publication
Mutagenesisi675 – 6751C → A: No effect. 1 Publication
Mutagenesisi745 – 7451D → E: No effect. 1 Publication
Mutagenesisi745 – 7451D → G: Abolishes enzyme activity but does not affect UDP-binding. 1 Publication
Mutagenesisi746 – 7461W → D, N or G: Strongly reduced enzyme activity but does not affect UDP-binding. 1 Publication
Mutagenesisi747 – 7471D → G or E: Reduced enzyme activity but does not affect UDP-binding. 1 Publication
Mutagenesisi920 – 9201C → A: No effect. 1 Publication
Mutagenesisi927 – 9271C → A: No effect. 1 Publication
Mutagenesisi933 – 9331C → A: No effect. 1 Publication

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiXYLT1.
DMDMi71164803.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 959959Xylosyltransferase 1PRO_0000191400Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi226 – 2261N-linked (GlcNAc...)Sequence analysis
Glycosylationi421 – 4211N-linked (GlcNAc...)Sequence analysis
Glycosylationi777 – 7771N-linked (GlcNAc...)Sequence analysis

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.
PhosphoSiteiQ86Y38.

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 interactions.
IntActiQ86Y38. 2 interactions.
STRINGi9606.ENSP00000261381.

Structurei

3D structure databases

ProteinModelPortaliQ86Y38.
SMRiQ86Y38. Positions 328-535.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti115 – 1151A → S in PXE; acts as a modifier of disease severity; results in higher serum xylosyltransferase activity. 1 Publication
Corresponds to variant rs61758388 [ dbSNP | Ensembl ].
VAR_071271
Natural varianti325 – 3251P → R.
Corresponds to variant rs28709752 [ dbSNP | Ensembl ].
VAR_049324
Natural varianti406 – 4061R → W.1 Publication
Corresponds to variant rs201009902 [ dbSNP | Ensembl ].
VAR_071272
Natural varianti481 – 4811R → 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 Publication
Corresponds to variant rs587777366 [ dbSNP | Ensembl ].
VAR_071273
Natural varianti598 – 5981R → C in DBQD2. 1 Publication
Corresponds to variant rs587777367 [ dbSNP | Ensembl ].
VAR_071274
Natural varianti665 – 6651T → M.1 Publication
Corresponds to variant rs79030430 [ dbSNP | Ensembl ].
VAR_071275
Natural varianti766 – 7661P → A.
Corresponds to variant rs12325439 [ dbSNP | Ensembl ].
VAR_049325
Natural varianti839 – 8391V → I.
Corresponds to variant rs7200466 [ dbSNP | Ensembl ].
VAR_049326
Natural varianti892 – 8921R → Q.
Corresponds to variant rs35309694 [ dbSNP | Ensembl ].
VAR_049327

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.
SMRiQ86Y38. Positions 328-535.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122080. 3 interactions.
IntActiQ86Y38. 2 interactions.
STRINGi9606.ENSP00000261381.

Protein family/group databases

CAZyiGT14. Glycosyltransferase Family 14.

PTM databases

iPTMnetiQ86Y38.
PhosphoSiteiQ86Y38.

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.
GeneCardsiXYLT1.
HGNCiHGNC:15516. XYLT1.
HPAiHPA007478.
HPA007966.
MalaCardsiXYLT1.
MIMi264800. phenotype.
608124. gene.
615777. phenotype.
neXtProtiNX_Q86Y38.
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.
BRENDAi2.4.2.26. 2681.
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: September 7, 2016
This is version 108 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.