Q9H1B5 (XYLT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Xylosyltransferase 2
EC=2.4.2.26

Alternative name(s):
Peptide O-xylosyltransferase 1
Xylosyltransferase II
Short name=XT-II
Short name=XylT-II

Gene names

Name:	XYLT2
Synonyms:	XT2
ORF Names:	UNQ3058/PRO9878

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	865 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Probably 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 By similarity. Its enzyme activity has not been demonstrated.
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 By similarity.
Pathway	Glycan metabolism; chondroitin sulfate biosynthesis. Glycan metabolism; heparan sulfate biosynthesis.
Subunit structure	Monomer By similarity.
Subcellular location	Endoplasmic reticulum membrane; Single-pass type II membrane protein By similarity. Golgi apparatus membrane; Single-pass type II membrane protein By similarity.
Tissue specificity	Widely expressed. Expressed at higher level in kidney and pancreas. Ref.1
Post-translational modification	Contains disulfide bonds By similarity.
Sequence similarities	Belongs to the glycosyltransferase 14 family. XylT subfamily.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	glycosaminoglycan biosynthetic process Non-traceable author statement Ref.1. Source: UniProtKB
Cellular component	Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum membrane 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 Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9H1B5-1)

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.

Isoform 2 (identifier: Q9H1B5-2)

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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 865	865	Xylosyltransferase 2		PRO_0000191406
Regions
	Topological domain	1 – 15	15	Cytoplasmic Potential
	Transmembrane	16 – 36	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	37 – 865	829	Lumenal Potential
Amino acid modifications
	Glycosylation	122	1	N-linked (GlcNAc...) Potential
	Glycosylation	327	1	N-linked (GlcNAc...) Potential
	Glycosylation	683	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	583 – 638	56	FEPRG…LGRSD → LALIGTPKSVFSGTLGGYWG RWTSLWPCSAGPGAPTSQPQ WSGSTQPMWWPHLMTS in isoform 2.		VSP_013758
	Alternative sequence	639 – 865	227	Missing in isoform 2.		VSP_013759
	Natural variant	60	1	G → R. Corresponds to variant rs739990 [ dbSNP | Ensembl ].		VAR_049328
	Natural variant	305	1	R → T. Ref.1 Ref.3 Corresponds to variant rs12451299 [ dbSNP | Ensembl ].		VAR_022453
	Natural variant	801	1	T → R. Corresponds to variant rs6504649 [ dbSNP | Ensembl ].		VAR_022454

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 20, 2007. Version 2. Checksum: EF477B7C3C1B964B	FASTA	865	96,767
	10 20 30 40 50 60 MVASARVQKL VRRYKLAIAT ALAILLLQGL VVWSFSGLEE DEAGEKGRQR KPRPLDPGEG 70 80 90 100 110 120 SKDTDSSAGR RGSTGRRHGR WRGRAESPGV PVAKVVRAVT SRQRASRRVP PAPPPEAPGR 130 140 150 160 170 180 QNLSGAAAGE ALVGAAGFPP HGDTGSVEGA PQPTDNGFTP KCEIVGKDAL SALARASTKQ 190 200 210 220 230 240 CQQEIANVVC LHQAGSLMPK AVPRHCQLTG KMSPGIQWDE SQAQQPMDGP PVRIAYMLVV 250 260 270 280 290 300 HGRAIRQLKR LLKAVYHEQH FFYIHVDKRS DYLHREVVEL AQGYDNVRVT PWRMVTIWGG 310 320 330 340 350 360 ASLLRMYLRS MRDLLEVPGW AWDFFINLSA TDYPTRTNEE LVAFLSKNRD KNFLKSHGRD 370 380 390 400 410 420 NSRFIKKQGL DRLFHECDSH MWRLGERQIP AGIVVDGGSD WFVLTRSFVE YVVYTDDPLV 430 440 450 460 470 480 AQLRQFYTYT LLPAESFFHT VLENSLACET LVDNNLRVTN WNRKLGCKCQ YKHIVDWCGC 490 500 510 520 530 540 SPNDFKPQDF LRLQQVSRPT FFARKFESTV NQEVLEILDF HLYGSYPPGT PALKAYWENT 550 560 570 580 590 600 YDAADGPSGL SDVMLTAYTA FARLSLHHAA TAAPPMGTPL CRFEPRGLPS SVHLYFYDDH 610 620 630 640 650 660 FQGYLVTQAV QPSAQGPAET LEMWLMPQGS LKLLGRSDQA SRLQSLEVGT DWDPKERLFR 670 680 690 700 710 720 NFGGLLGPLD EPVAVQRWAR GPNLTATVVW IDPTYVVATS YDITVDTETE VTQYKPPLSR 730 740 750 760 770 780 PLRPGPWTVR LLQFWEPLGE TRFLVLPLTF NRKLPLRKDD ASWLHAGPPH NEYMEQSFQG 790 800 810 820 830 840 LSSILNLPQP ELAEEAAQRH TQLTGPALEA WTDRELSSFW SVAGLCAIGP SPCPSLEPCR 850 860 LTSWSSLSPD PKSELGPVKA DGRLR
	Isoform 2 [UniParc]. Checksum: 0E8F1F0B3ED470CF	FASTA	638	71,115
	10 20 30 40 50 60 MVASARVQKL VRRYKLAIAT ALAILLLQGL VVWSFSGLEE DEAGEKGRQR KPRPLDPGEG 70 80 90 100 110 120 SKDTDSSAGR RGSTGRRHGR WRGRAESPGV PVAKVVRAVT SRQRASRRVP PAPPPEAPGR 130 140 150 160 170 180 QNLSGAAAGE ALVGAAGFPP HGDTGSVEGA PQPTDNGFTP KCEIVGKDAL SALARASTKQ 190 200 210 220 230 240 CQQEIANVVC LHQAGSLMPK AVPRHCQLTG KMSPGIQWDE SQAQQPMDGP PVRIAYMLVV 250 260 270 280 290 300 HGRAIRQLKR LLKAVYHEQH FFYIHVDKRS DYLHREVVEL AQGYDNVRVT PWRMVTIWGG 310 320 330 340 350 360 ASLLRMYLRS MRDLLEVPGW AWDFFINLSA TDYPTRTNEE LVAFLSKNRD KNFLKSHGRD 370 380 390 400 410 420 NSRFIKKQGL DRLFHECDSH MWRLGERQIP AGIVVDGGSD WFVLTRSFVE YVVYTDDPLV 430 440 450 460 470 480 AQLRQFYTYT LLPAESFFHT VLENSLACET LVDNNLRVTN WNRKLGCKCQ YKHIVDWCGC 490 500 510 520 530 540 SPNDFKPQDF LRLQQVSRPT FFARKFESTV NQEVLEILDF HLYGSYPPGT PALKAYWENT 550 560 570 580 590 600 YDAADGPSGL SDVMLTAYTA FARLSLHHAA TAAPPMGTPL CRLALIGTPK SVFSGTLGGY 610 620 630 WGRWTSLWPC SAGPGAPTSQ PQWSGSTQPM WWPHLMTS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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] (ISOFORM 1), VARIANT THR-305, TISSUE SPECIFICITY. Tissue: Chondrosarcoma.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-305. Tissue: Pancreas.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ277442 mRNA. Translation: CAC16788.1. AY358090 mRNA. Translation: AAQ88457.1. BC052262 mRNA. Translation: AAH52262.2.
IPI	IPI00432723. IPI00556347.
RefSeq	NP_071450.2. NM_022167.2.
UniGene	Hs.463416.
3D structure databases
ProteinModelPortal	Q9H1B5.
SMR	Q9H1B5. Positions 233-525.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9H1B5.
Protein family/group databases
CAZy	GT14. Glycosyltransferase Family 14.
Polymorphism databases
DMDM	126302616.
Proteomic databases
PRIDE	Q9H1B5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000017003; ENSP00000017003; ENSG00000015532.
GeneID	64132.
KEGG	hsa:64132.
NMPDR	fig|9606.3.peg.14042.
UCSC	uc002iqo.1. human.
Organism-specific databases
CTD	64132.
GeneCards	GC17P048423.
H-InvDB	HIX0013973.
HGNC	HGNC:15517. XYLT2.
HPA	HPA016456.
MIM	608125. gene.
neXtProt	NX_Q9H1B5.
PharmGKB	PA37974.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG17270.
GeneTree	ENSGT00550000074330.
HOGENOM	HBG446141.
HOVERGEN	HBG059443.
InParanoid	Q9H1B5.
OMA	DYPTRTN.
OrthoDB	EOG4RR6GN.
PhylomeDB	Q9H1B5.
Enzyme and pathway databases
BioCyc	MetaCyc:HS00371-MONOMER.
BRENDA	2.4.2.26. 2681.
Gene expression databases
ArrayExpress	Q9H1B5.
Bgee	Q9H1B5.
CleanEx	HS_XYLT2.
Genevestigator	Q9H1B5.
GermOnline	ENSG00000015532. 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	66030.
SOURCE	Search...

Entry information

Entry name

XYLT2_HUMAN

Accession

Primary (citable) accession number: Q9H1B5
Secondary accession number(s): Q6UY41, Q86V00

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 10, 2005
Last sequence update:	February 20, 2007
Last modified:	January 25, 2012
This is version 76 of the entry and version 2 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.