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Protein

Xylosyltransferase 2

Gene

XYLT2

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

Functioni

Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein.2 Publications

Catalytic activityi

UDP-alpha-D-xylose + [protein]-L-serine = UDP + [protein]-3-O-(beta-D-xylosyl)-L-serine.4 Publications

Cofactori

Mg2+1 Publication, Mn2+1 PublicationNote: Active with either Mg2+ or Mn2+, but activity is highest when both are present.1 Publication

Pathwayi: chondroitin sulfate biosynthesis

This protein is involved in the pathway chondroitin sulfate biosynthesis, which is part of Glycan metabolism.1 Publication
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.2 Publications
View all proteins of this organism that are known to be involved in the pathway heparan sulfate biosynthesis and in Glycan metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei239UDP-xylose; via carbonyl oxygenBy similarity1
Binding sitei267UDP-xyloseBy similarity1
Binding sitei481UDP-xyloseBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase
LigandMagnesium, Manganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00371-MONOMER
BRENDAi2.4.2.26 2681
ReactomeiR-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
SignaLinkiQ9H1B5
UniPathwayi
UPA00755

UPA00756

Protein family/group databases

CAZyiGT14 Glycosyltransferase Family 14

Names & Taxonomyi

Protein namesi
Recommended name:
Xylosyltransferase 2 (EC:2.4.2.264 Publications)
Alternative name(s):
Peptide O-xylosyltransferase 1
Xylosyltransferase II1 Publication
Short name:
XT-II1 Publication
Short name:
XylT-II
Gene namesi
Name:XYLT2
Synonyms:XT2
ORF Names:UNQ3058/PRO9878
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000015532.9
HGNCiHGNC:15517 XYLT2
MIMi608125 gene
neXtProtiNX_Q9H1B5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 15CytoplasmicSequence analysisAdd BLAST15
Transmembranei16 – 36Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini37 – 865LumenalSequence analysisAdd BLAST829

Keywords - Cellular componenti

Golgi apparatus, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Spondyloocular syndrome (SOS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, osteoporosis, immobile spine with thoracic kyphosis and reduced lumbal lordosis.
See also OMIM:605822
Pseudoxanthoma elasticum (PXE)1 Publication
The gene represented in this entry acts as a disease modifier. PXE patients carrying causative ABCC6 mutations, manifest a more severe disease course characterized by earlier onset, frequent skin lesions and higher organ involvement, in the presence of XYLT2 variants.1 Publication
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_022454801T → R in PXE; acts as a modifier of disease severity; more frequent in patients with a severe disease course. 1 PublicationCorresponds to variant dbSNP:rs6504649EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi64132
MalaCardsiXYLT2
MIMi264800 phenotype
605822 phenotype
OpenTargetsiENSG00000015532
PharmGKBiPA37974

Polymorphism and mutation databases

BioMutaiXYLT2
DMDMi126302616

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001914061 – 865Xylosyltransferase 2Add BLAST865

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi122N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi162 ↔ 190By similarity
Disulfide bondi206 ↔ 448By similarity
Glycosylationi327N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi467 ↔ 480By similarity
Disulfide bondi469 ↔ 478By similarity
Disulfide bondi581 ↔ 833By similarity
Glycosylationi683N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi826 ↔ 839By similarity

Post-translational modificationi

Contains disulfide bonds.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9H1B5
MaxQBiQ9H1B5
PaxDbiQ9H1B5
PeptideAtlasiQ9H1B5
PRIDEiQ9H1B5
ProteomicsDBi80393
80394 [Q9H1B5-2]

PTM databases

iPTMnetiQ9H1B5
PhosphoSitePlusiQ9H1B5

Expressioni

Tissue specificityi

Widely expressed. Expressed at higher level in kidney and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000015532 Expressed in 188 organ(s), highest expression level in fundus of stomach
CleanExiHS_XYLT2
ExpressionAtlasiQ9H1B5 baseline and differential
GenevisibleiQ9H1B5 HS

Organism-specific databases

HPAiHPA016456

Interactioni

Subunit structurei

Monomer.By similarity

Protein-protein interaction databases

BioGridi122081, 25 interactors
IntActiQ9H1B5, 1 interactor
STRINGi9606.ENSP00000017003

Structurei

3D structure databases

ProteinModelPortaliQ9H1B5
SMRiQ9H1B5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni296 – 298UDP-xylose bindingBy similarity3
Regioni400 – 401UDP-xylose bindingBy similarity2
Regioni504 – 505UDP-xylose bindingBy similarity2

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0799 Eukaryota
ENOG410XQ7M LUCA
GeneTreeiENSGT00760000119183
HOGENOMiHOG000070086
HOVERGENiHBG059443
InParanoidiQ9H1B5
KOiK00771
OMAiWRMVTIW
OrthoDBiEOG091G020K
PhylomeDBiQ9H1B5
TreeFamiTF315534

Family and domain databases

InterProiView protein in InterPro
IPR003406 Glyco_trans_14
IPR024448 XylT
PfamiView protein in Pfam
PF02485 Branch, 1 hit
PF12529 Xylo_C, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H1B5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVASARVQKL VRRYKLAIAT ALAILLLQGL VVWSFSGLEE DEAGEKGRQR
60 70 80 90 100
KPRPLDPGEG SKDTDSSAGR RGSTGRRHGR WRGRAESPGV PVAKVVRAVT
110 120 130 140 150
SRQRASRRVP PAPPPEAPGR QNLSGAAAGE ALVGAAGFPP HGDTGSVEGA
160 170 180 190 200
PQPTDNGFTP KCEIVGKDAL SALARASTKQ CQQEIANVVC LHQAGSLMPK
210 220 230 240 250
AVPRHCQLTG KMSPGIQWDE SQAQQPMDGP PVRIAYMLVV HGRAIRQLKR
260 270 280 290 300
LLKAVYHEQH FFYIHVDKRS DYLHREVVEL AQGYDNVRVT PWRMVTIWGG
310 320 330 340 350
ASLLRMYLRS MRDLLEVPGW AWDFFINLSA TDYPTRTNEE LVAFLSKNRD
360 370 380 390 400
KNFLKSHGRD NSRFIKKQGL DRLFHECDSH MWRLGERQIP AGIVVDGGSD
410 420 430 440 450
WFVLTRSFVE YVVYTDDPLV AQLRQFYTYT LLPAESFFHT VLENSLACET
460 470 480 490 500
LVDNNLRVTN WNRKLGCKCQ YKHIVDWCGC SPNDFKPQDF LRLQQVSRPT
510 520 530 540 550
FFARKFESTV NQEVLEILDF HLYGSYPPGT PALKAYWENT YDAADGPSGL
560 570 580 590 600
SDVMLTAYTA FARLSLHHAA TAAPPMGTPL CRFEPRGLPS SVHLYFYDDH
610 620 630 640 650
FQGYLVTQAV QPSAQGPAET LEMWLMPQGS LKLLGRSDQA SRLQSLEVGT
660 670 680 690 700
DWDPKERLFR NFGGLLGPLD EPVAVQRWAR GPNLTATVVW IDPTYVVATS
710 720 730 740 750
YDITVDTETE VTQYKPPLSR PLRPGPWTVR LLQFWEPLGE TRFLVLPLTF
760 770 780 790 800
NRKLPLRKDD ASWLHAGPPH NEYMEQSFQG LSSILNLPQP ELAEEAAQRH
810 820 830 840 850
TQLTGPALEA WTDRELSSFW SVAGLCAIGP SPCPSLEPCR LTSWSSLSPD
860
PKSELGPVKA DGRLR
Length:865
Mass (Da):96,767
Last modified:February 20, 2007 - v2
Checksum:iEF477B7C3C1B964B
GO
Isoform 2 (identifier: Q9H1B5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     583-638: FEPRGLPSSV...GSLKLLGRSD → LALIGTPKSV...PMWWPHLMTS
     639-865: Missing.

Note: No experimental confirmation available.
Show »
Length:638
Mass (Da):71,115
Checksum:i0E8F1F0B3ED470CF
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DT06B4DT06_HUMAN
Xylosyltransferase 2
XYLT2
676Annotation score:
A0A0C4DFW8A0A0C4DFW8_HUMAN
Xylosyltransferase 2
XYLT2 hCG_29612
639Annotation score:
H0YB00H0YB00_HUMAN
Xylosyltransferase 2
XYLT2
117Annotation score:
I3L3K2I3L3K2_HUMAN
Xylosyltransferase 2
XYLT2
46Annotation score:
D6RCT0D6RCT0_HUMAN
Xylosyltransferase 2
XYLT2
45Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07127656D → N1 PublicationCorresponds to variant dbSNP:rs113835371Ensembl.1
Natural variantiVAR_04932860G → R. Corresponds to variant dbSNP:rs739990Ensembl.1
Natural variantiVAR_071277115P → L1 PublicationCorresponds to variant dbSNP:rs748114111Ensembl.1
Natural variantiVAR_022453305R → T3 PublicationsCorresponds to variant dbSNP:rs12451299Ensembl.1
Natural variantiVAR_071278418P → L1 PublicationCorresponds to variant dbSNP:rs72832454Ensembl.1
Natural variantiVAR_022454801T → R in PXE; acts as a modifier of disease severity; more frequent in patients with a severe disease course. 1 PublicationCorresponds to variant dbSNP:rs6504649EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_013758583 – 638FEPRG…LGRSD → LALIGTPKSVFSGTLGGYWG RWTSLWPCSAGPGAPTSQPQ WSGSTQPMWWPHLMTS in isoform 2. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_013759639 – 865Missing in isoform 2. 1 PublicationAdd BLAST227

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ277442 mRNA Translation: CAC16788.1
AY358090 mRNA Translation: AAQ88457.1
BC052262 mRNA Translation: AAH52262.2
CCDSiCCDS11563.1 [Q9H1B5-1]
RefSeqiNP_071450.2, NM_022167.3 [Q9H1B5-1]
UniGeneiHs.463416
Hs.718822

Genome annotation databases

EnsembliENST00000017003; ENSP00000017003; ENSG00000015532 [Q9H1B5-1]
GeneIDi64132
KEGGihsa:64132
UCSCiuc002iqo.5 human [Q9H1B5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ277442 mRNA Translation: CAC16788.1
AY358090 mRNA Translation: AAQ88457.1
BC052262 mRNA Translation: AAH52262.2
CCDSiCCDS11563.1 [Q9H1B5-1]
RefSeqiNP_071450.2, NM_022167.3 [Q9H1B5-1]
UniGeneiHs.463416
Hs.718822

3D structure databases

ProteinModelPortaliQ9H1B5
SMRiQ9H1B5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122081, 25 interactors
IntActiQ9H1B5, 1 interactor
STRINGi9606.ENSP00000017003

Protein family/group databases

CAZyiGT14 Glycosyltransferase Family 14

PTM databases

iPTMnetiQ9H1B5
PhosphoSitePlusiQ9H1B5

Polymorphism and mutation databases

BioMutaiXYLT2
DMDMi126302616

Proteomic databases

EPDiQ9H1B5
MaxQBiQ9H1B5
PaxDbiQ9H1B5
PeptideAtlasiQ9H1B5
PRIDEiQ9H1B5
ProteomicsDBi80393
80394 [Q9H1B5-2]

Protocols and materials databases

DNASUi64132
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000017003; ENSP00000017003; ENSG00000015532 [Q9H1B5-1]
GeneIDi64132
KEGGihsa:64132
UCSCiuc002iqo.5 human [Q9H1B5-1]

Organism-specific databases

CTDi64132
DisGeNETi64132
EuPathDBiHostDB:ENSG00000015532.9
GeneCardsiXYLT2
H-InvDBiHIX0013973
HGNCiHGNC:15517 XYLT2
HPAiHPA016456
MalaCardsiXYLT2
MIMi264800 phenotype
605822 phenotype
608125 gene
neXtProtiNX_Q9H1B5
OpenTargetsiENSG00000015532
PharmGKBiPA37974
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0799 Eukaryota
ENOG410XQ7M LUCA
GeneTreeiENSGT00760000119183
HOGENOMiHOG000070086
HOVERGENiHBG059443
InParanoidiQ9H1B5
KOiK00771
OMAiWRMVTIW
OrthoDBiEOG091G020K
PhylomeDBiQ9H1B5
TreeFamiTF315534

Enzyme and pathway databases

UniPathwayi
UPA00755

UPA00756

BioCyciMetaCyc:HS00371-MONOMER
BRENDAi2.4.2.26 2681
ReactomeiR-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
SignaLinkiQ9H1B5

Miscellaneous databases

GeneWikiiXYLT2
GenomeRNAii64132
PROiPR:Q9H1B5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000015532 Expressed in 188 organ(s), highest expression level in fundus of stomach
CleanExiHS_XYLT2
ExpressionAtlasiQ9H1B5 baseline and differential
GenevisibleiQ9H1B5 HS

Family and domain databases

InterProiView protein in InterPro
IPR003406 Glyco_trans_14
IPR024448 XylT
PfamiView protein in Pfam
PF02485 Branch, 1 hit
PF12529 Xylo_C, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiXYLT2_HUMAN
AccessioniPrimary (citable) accession number: Q9H1B5
Secondary accession number(s): Q6UY41, Q86V00
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: February 20, 2007
Last modified: October 10, 2018
This is version 137 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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