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Entry version 145 (16 Oct 2019)
Sequence version 2 (20 Feb 2007)
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Protein

Xylosyltransferase 2

Gene

XYLT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei239UDP-xylose; via carbonyl oxygenBy similarity1
Binding sitei267UDP-xyloseBy similarity1
Binding sitei481UDP-xyloseBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosyltransferase, Transferase
LigandMagnesium, Manganese, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS00371-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.4.2.26 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q9H1B5

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00755
UPA00756

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GT14 Glycosyltransferase Family 14

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:XYLT2
Synonyms:XT2
ORF Names:UNQ3058/PRO9878
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15517 XYLT2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608125 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H1B5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 15CytoplasmicSequence analysisAdd BLAST15
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei16 – 36Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini37 – 865LumenalSequence analysisAdd BLAST829

Keywords - Cellular componenti

Golgi apparatus, Membrane, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
64132

MalaCards human disease database

More...
MalaCardsi
XYLT2
MIMi264800 phenotype
605822 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000015532

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
85194 Spondylo-ocular syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37974

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H1B5

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
XYLT2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
126302616

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001914061 – 865Xylosyltransferase 2Add BLAST865

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi122N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Contains disulfide bonds.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9H1B5

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9H1B5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H1B5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H1B5

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H1B5

PeptideAtlas

More...
PeptideAtlasi
Q9H1B5

PRoteomics IDEntifications database

More...
PRIDEi
Q9H1B5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
80393 [Q9H1B5-1]
80394 [Q9H1B5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H1B5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H1B5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000015532 Expressed in 188 organ(s), highest expression level in fundus of stomach

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H1B5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H1B5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA016456

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122081, 26 interactors

Protein interaction database and analysis system

More...
IntActi
Q9H1B5, 13 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000017003

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9H1B5

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni296 – 298UDP-xylose bindingBy similarity3
Regioni400 – 401UDP-xylose bindingBy similarity2
Regioni504 – 505UDP-xylose bindingBy similarity2

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0799 Eukaryota
ENOG410XQ7M LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158326

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000070086

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H1B5

KEGG Orthology (KO)

More...
KOi
K00771

Identification of Orthologs from Complete Genome Data

More...
OMAi
RHFFYIH

Database of Orthologous Groups

More...
OrthoDBi
564384at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H1B5

TreeFam database of animal gene trees

More...
TreeFami
TF315534

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003406 Glyco_trans_14
IPR024448 XylT

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02485 Branch, 1 hit
PF12529 Xylo_C, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DFW8A0A0C4DFW8_HUMAN
Xylosyltransferase 2
XYLT2 hCG_29612
639Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YB00H0YB00_HUMAN
Xylosyltransferase 2
XYLT2
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RCT0D6RCT0_HUMAN
Xylosyltransferase 2
XYLT2
45Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L3K2I3L3K2_HUMAN
Xylosyltransferase 2
XYLT2
46Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AJ277442 mRNA Translation: CAC16788.1
AY358090 mRNA Translation: AAQ88457.1
BC052262 mRNA Translation: AAH52262.2

The Consensus CDS (CCDS) project

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CCDSi
CCDS11563.1 [Q9H1B5-1]

NCBI Reference Sequences

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RefSeqi
NP_071450.2, NM_022167.3 [Q9H1B5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000017003; ENSP00000017003; ENSG00000015532 [Q9H1B5-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64132

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64132

UCSC genome browser

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UCSCi
uc002iqo.5 human [Q9H1B5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ9H1B5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi122081, 26 interactors
IntActiQ9H1B5, 13 interactors
STRINGi9606.ENSP00000017003

Protein family/group databases

CAZyiGT14 Glycosyltransferase Family 14

PTM databases

iPTMnetiQ9H1B5
PhosphoSitePlusiQ9H1B5

Polymorphism and mutation databases

BioMutaiXYLT2
DMDMi126302616

Proteomic databases

EPDiQ9H1B5
jPOSTiQ9H1B5
MassIVEiQ9H1B5
MaxQBiQ9H1B5
PaxDbiQ9H1B5
PeptideAtlasiQ9H1B5
PRIDEiQ9H1B5
ProteomicsDBi80393 [Q9H1B5-1]
80394 [Q9H1B5-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
64132

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64132
DisGeNETi64132

GeneCards: human genes, protein and diseases

More...
GeneCardsi
XYLT2
HGNCiHGNC:15517 XYLT2
HPAiHPA016456
MalaCardsiXYLT2
MIMi264800 phenotype
605822 phenotype
608125 gene
neXtProtiNX_Q9H1B5
OpenTargetsiENSG00000015532
Orphaneti85194 Spondylo-ocular syndrome
PharmGKBiPA37974

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0799 Eukaryota
ENOG410XQ7M LUCA
GeneTreeiENSGT00940000158326
HOGENOMiHOG000070086
InParanoidiQ9H1B5
KOiK00771
OMAiRHFFYIH
OrthoDBi564384at2759
PhylomeDBiQ9H1B5
TreeFamiTF315534

Enzyme and pathway databases

UniPathwayiUPA00755
UPA00756
BioCyciMetaCyc:HS00371-MONOMER
BRENDAi2.4.2.26 2681
ReactomeiR-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
SignaLinkiQ9H1B5

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
XYLT2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
64132
PharosiQ9H1B5

Protein Ontology

More...
PROi
PR:Q9H1B5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000015532 Expressed in 188 organ(s), highest expression level in fundus of stomach
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiXYLT2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H1B5
Secondary accession number(s): Q6UY41, Q86V00
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: February 20, 2007
Last modified: October 16, 2019
This is version 145 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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