Q86Y38 (XYLT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	XYLT1
Synonyms:	XT1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	959 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Cofactor	Divalent cations. Ref.1 Ref.6
Pathway	Glycan metabolism; chondroitin sulfate biosynthesis. Glycan metabolism; heparan sulfate biosynthesis.
Subunit structure	Monomer. Ref.1
Subcellular location	Endoplasmic reticulum membrane; Single-pass type II membrane protein By similarity. Golgi apparatus membrane; Single-pass type II membrane protein By similarity. Secreted Probable. Note: Some fraction is also found in the extracellular space together with chondroitin sulfate proteoglycans, suggesting that it can be secreted. Ref.4
Tissue specificity	Widely expressed. Expressed at higher level in placenta, kidney and pancreas. Weakly expressed in skeletal muscle. Ref.2
Post-translational modification	Contains 7 disulfide bonds. N-glycosylated. Ref.3
Miscellaneous	Activity is strongly reduced in seminal plasma of unfertile men.
Sequence similarities	Belongs to the glycosyltransferase 14 family. XylT subfamily.
Biophysicochemical properties	Kinetic parameters: KM=0.9 µM for recombinant bikunin Ref.1 Ref.6 Vmax=764 pmol/h/mg enzyme with recombinant bikunin as substrate

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Golgi apparatus Membrane Secreted
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	glycosaminoglycan biosynthetic process Traceable author statement Ref.2. Source: UniProtKB
Cellular component	Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	acetylglucosaminyltransferase activity Inferred from electronic annotation. Source: InterPro protein xylosyltransferase activity Traceable author statement Ref.2. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 959	959	Xylosyltransferase 1		PRO_0000191400
Regions
	Topological domain	1 – 17	17	Cytoplasmic Potential
	Transmembrane	18 – 38	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	39 – 959	921	Lumenal Potential
Amino acid modifications
	Glycosylation	226	1	N-linked (GlcNAc...) Potential
	Glycosylation	421	1	N-linked (GlcNAc...) Potential
	Glycosylation	777	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	325	1	P → R. Corresponds to variant rs28709752 [ dbSNP | Ensembl ].		VAR_049324
	Natural variant	766	1	P → A. Corresponds to variant rs12325439 [ dbSNP | Ensembl ].		VAR_049325
	Natural variant	839	1	V → I. Corresponds to variant rs7200466 [ dbSNP | Ensembl ].		VAR_049326
	Natural variant	892	1	R → Q. Corresponds to variant rs35309694 [ dbSNP | Ensembl ].		VAR_049327
Experimental info
	Mutagenesis	257	1	C → A: No effect. Ref.1
	Mutagenesis	276	1	C → A: Strongly reduced enzyme activity. Ref.1
	Mutagenesis	285	1	C → A: No effect. Ref.1
	Mutagenesis	301	1	C → A: No effect. Ref.1
	Mutagenesis	314	1	D → G: No effect. Ref.6
	Mutagenesis	316	1	D → G: No effect. Ref.6
	Mutagenesis	471	1	C → A: Strongly reduced enzyme activity. Ref.1
	Mutagenesis	542	1	C → A: No effect. Ref.1
	Mutagenesis	561	1	C → A: Strongly reduced enzyme activity. Ref.1
	Mutagenesis	563	1	C → A: No effect. Ref.1
	Mutagenesis	572	1	C → A: Strongly reduced enzyme activity. Ref.1
	Mutagenesis	574	1	C → A: Strongly reduced enzyme activity. Ref.1
	Mutagenesis	675	1	C → A: No effect. Ref.1
	Mutagenesis	745	1	D → E: No effect. Ref.6
	Mutagenesis	745	1	D → G: Abolishes enzyme activity but does not affect UDP-binding. Ref.6
	Mutagenesis	746	1	W → D, N or G: Strongly reduced enzyme activity but does not affect UDP-binding. Ref.6
	Mutagenesis	747	1	D → G or E: Reduced enzyme activity but does not affect UDP-binding. Ref.6
	Mutagenesis	920	1	C → A: No effect. Ref.1
	Mutagenesis	927	1	C → A: No effect. Ref.1
	Mutagenesis	933	1	C → A: No effect. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q86Y38 [UniParc]. Last modified June 1, 2003. Version 1. Checksum: 056FC3F66EFD4D81	FASTA	959	107,569
	10 20 30 40 50 60 MVAAPCARRL ARRSHSALLA ALTVLLLQTL VVWNFSSLDS GAGERRGGAA VGGGEQPPPA 70 80 90 100 110 120 PAPRRERRDL PAEPAAARGG GGGGGGGGGG RGPQARARGG GPGEPRGQQP ASRGALPARA 130 140 150 160 170 180 LDPHPSPLIT LETQDGYFSH RPKEKVRTDS NNENSVPKDF ENVDNSNFAP RTQKQKHQPE 190 200 210 220 230 240 LAKKPPSRQK ELLKRKLEQQ EKGKGHTFPG KGPGEVLPPG DRAAANSSHG KDVSRPPHAR 250 260 270 280 290 300 KTGGSSPETK YDQPPKCDIS GKEAISALSR AKSKHCRQEI GETYCRHKLG LLMPEKVTRF 310 320 330 340 350 360 CPLEGKANKN VQWDEDSVEY MPANPVRIAF VLVVHGRASR QLQRMFKAIY HKDHFYYIHV 370 380 390 400 410 420 DKRSNYLHRQ VLQVSRQYSN VRVTPWRMAT IWGGASLLST YLQSMRDLLE MTDWPWDFFI 430 440 450 460 470 480 NLSAADYPIR TNDQLVAFLS RYRDMNFLKS HGRDNARFIR KQGLDRLFLE CDAHMWRLGD 490 500 510 520 530 540 RRIPEGIAVD GGSDWFLLNR RFVEYVTFST DDLVTKMKQF YSYTLLPAES FFHTVLENSP 550 560 570 580 590 600 HCDTMVDNNL RITNWNRKLG CKCQYKHIVD WCGCSPNDFK PQDFHRFQQT ARPTFFARKF 610 620 630 640 650 660 EAVVNQEIIG QLDYYLYGNY PAGTPGLRSY WENVYDEPDG IHSLSDVTLT LYHSFARLGL 670 680 690 700 710 720 RRAETSLHTD GENSCRYYPM GHPASVHLYF LADRFQGFLI KHHATNLAVS KLETLETWVM 730 740 750 760 770 780 PKKVFKIASP PSDFGRLQFS EVGTDWDAKE RLFRNFGGLL GPMDEPVGMQ KWGKGPNVTV 790 800 810 820 830 840 TVIWVDPVNV IAATYDILIE STAEFTHYKP PLNLPLRPGV WTVKILHHWV PVAETKFLVA 850 860 870 880 890 900 PLTFSNRQPI KPEEALKLHN GPLRNAYMEQ SFQSLNPVLS LPINPAQVEQ ARRNAASTGT 910 920 930 940 950 ALEGWLDSLV GGMWTAMDIC ATGPTACPVM QTCSQTAWSS FSPDPKSELG AVKPDGRLR

References

[1]	"Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity." Mueller S., Schoettler M., Schoen S., Prante C., Brinkmann T., Kuhn J., Goetting C., Kleesiek K. Biochem. J. 386:227-236(2005) [PubMed: 15461586] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], DISULFIDE BONDS, COFACTOR, BIOPHYSICOCHEMICAL PROPERTIES, SUBUNIT, MUTAGENESIS OF CYS-257; CYS-276; CYS-285; CYS-301; CYS-471; CYS-542; CYS-561; CYS-563; CYS-572; CYS-574; CYS-675; CYS-920; CYS-927 AND CYS-933.
[2]	"Molecular cloning and expression of human UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase and its first isoform XT-II." Goetting C., Kuhn J., Zahn R., Brinkmann T., Kleesiek K. J. Mol. Biol. 304:517-528(2000) [PubMed: 11099377] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 133-959, TISSUE SPECIFICITY.
[3]	"First isolation of human UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase secreted from cultured JAR choriocarcinoma cells." Kuhn J., Goetting C., Schnoelzer M., Kempf T., Brinkmann T., Kleesiek K. J. Biol. Chem. 276:4940-4947(2001) [PubMed: 11087729] [Abstract] Cited for: PROTEIN SEQUENCE OF 159-171; 185-202; 289-296; 444-449; 593-598; 727-748 AND 948-959, GLYCOSYLATION.
[4]	"Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis." Goetting C., Sollberg S., Kuhn J., Weilke C., Huerkamp C., Brinkmann T., Krieg T., Kleesiek K. J. Invest. Dermatol. 112:919-924(1999) [PubMed: 10383739] [Abstract] Cited for: SUBCELLULAR LOCATION.
[5]	"Xylosyltransferase activity in seminal plasma of infertile men." Goetting C., Kuhn J., Brinkmann T., Kleesiek K. Clin. Chim. Acta 317:199-202(2002) [PubMed: 11814476] [Abstract] Cited for: REDUCED ACTIVITY IN SEMINAL PLASMA.
[6]	"Analysis of the DXD motifs in human xylosyltransferase I required for enzyme activity." Goetting C., Mueller S., Schoettler M., Schoen S., Prante C., Brinkmann T., Kuhn J., Kleesiek K. J. Biol. Chem. 279:42566-42573(2004) [PubMed: 15294915] [Abstract] Cited for: BIOPHYSICOCHEMICAL PROPERTIES, COFACTOR, MUTAGENESIS OF ASP-314; ASP-316; ASP-745; TRP-746 AND ASP-747.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ539163 mRNA. Translation: CAD62248.1. AJ277441 mRNA. Translation: CAC16787.1.
IPI	IPI00183487.
RefSeq	NP_071449.1. NM_022166.3.
UniGene	Hs.22907. Hs.610023.
3D structure databases
ProteinModelPortal	Q86Y38.
SMR	Q86Y38. Positions 326-619.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q86Y38. 1 interaction.
STRING	Q86Y38.
Protein family/group databases
CAZy	GT14. Glycosyltransferase Family 14.
Polymorphism databases
DMDM	71164803.
Proteomic databases
PRIDE	Q86Y38.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000261381; ENSP00000261381; ENSG00000103489.
GeneID	64131.
KEGG	hsa:64131.
UCSC	uc002dfa.1. human.
Organism-specific databases
CTD	64131.
GeneCards	GC16M017196.
H-InvDB	HIX0012845.
HGNC	HGNC:15516. XYLT1.
HPA	HPA007478. HPA007966.
MIM	608124. gene.
neXtProt	NX_Q86Y38.
PharmGKB	PA37973.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG12140.
GeneTree	ENSGT00550000074330.
HOGENOM	HBG446141.
HOVERGEN	HBG059443.
InParanoid	Q86Y38.
OMA	ETYCRHK.
OrthoDB	EOG4255S3.
PhylomeDB	Q86Y38.
Enzyme and pathway databases
BioCyc	MetaCyc:HS02509-MONOMER.
BRENDA	2.4.2.26. 2681.
Gene expression databases
ArrayExpress	Q86Y38.
Bgee	Q86Y38.
CleanEx	HS_XYLT1.
Genevestigator	Q86Y38.
GermOnline	ENSG00000103489. Homo sapiens.
Family and domain databases
InterPro	IPR003406. Glyco_trans_14. IPR024448. XylT_met. [Graphical view]
KO	K00771.
Pfam	PF02485. Branch. 1 hit. PF12529. Xylo_C. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	66024.
SOURCE	Search...

Entry information

Entry name

XYLT1_HUMAN

Accession

Primary (citable) accession number: Q86Y38
Secondary accession number(s): Q9H1B6

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 10, 2005
Last sequence update:	June 1, 2003
Last modified:	January 25, 2012
This is version 68 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.