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Protein

Xyloside xylosyltransferase 1

Gene

XXYLT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of target proteins by catalyzing the addition of the second xylose (PubMed:22117070, PubMed:8982869). Known targets include Notch proteins and coagulation factors, such as F9 (PubMed:22117070, PubMed:8982869).2 Publications

Catalytic activityi

UDP-alpha-D-xylose + alpha-D-xylose-(1->3)-beta-D-glucosyl-R = UDP + alpha-D-xylose-(1->3)-alpha-D-xylose-(1->3)-beta-D-glucosyl-R.2 Publications

Cofactori

Mg2+1 Publication, Mn2+1 PublicationNote: Has the highest in vitro activity with 20 mM Mn2+, a concentration entirely out of the physiological range. Can also utilize Mg2+, suggesting this may be the physiological cofactor.1 Publication

Kineticsi

  1. KM=0.28 mM for UDP-alpha-D-xylose1 Publication

    pH dependencei

    Optimum pH is 7.2.1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Metal bindingi226ManganeseBy similarity1
    Binding sitei227UDP-alpha-D-xylose; via amide nitrogenBy similarity1
    Metal bindingi228ManganeseBy similarity1
    Binding sitei290UDP-alpha-D-xyloseBy similarity1
    Binding sitei328UDP-alpha-D-xylose; via carbonyl oxygenBy similarity1
    Binding sitei331Substrate glycopeptideBy similarity1
    Binding sitei331UDP-alpha-D-xyloseBy similarity1
    Binding sitei360Substrate glycopeptideBy similarity1
    Metal bindingi383ManganeseBy similarity1
    Binding sitei385Substrate glycopeptideBy similarity1

    GO - Molecular functioni

    GO - Biological processi

    • O-glycan processing Source: UniProtKB
    Complete GO annotation...

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Ligandi

    Magnesium, Manganese, Metal-binding

    Enzyme and pathway databases

    SIGNORiQ8NBI6.

    Protein family/group databases

    CAZyiGT8. Glycosyltransferase Family 8.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Xyloside xylosyltransferase 11 Publication (EC:2.4.2.n32 Publications)
    Alternative name(s):
    UDP-xylose:alpha-xyloside alpha-1,3-xylosyltransferase
    Gene namesi
    Name:XXYLT1
    Synonyms:C3orf21
    ORF Names:PSEC0251
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:26639. XXYLT1.

    Subcellular locationi

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Topological domaini1 – 23Cytoplasmic1 PublicationAdd BLAST23
    Transmembranei24 – 44Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
    Topological domaini45 – 393Lumenal1 PublicationAdd BLAST349

    GO - Cellular componenti

    • integral component of endoplasmic reticulum membrane Source: UniProtKB
    Complete GO annotation...

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    DisGeNETi152002.
    OpenTargetsiENSG00000173950.
    PharmGKBiPA134925222.

    Polymorphism and mutation databases

    BioMutaiXXYLT1.
    DMDMi74751171.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00002344271 – 393Xyloside xylosyltransferase 1Add BLAST393

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Disulfide bondi350 ↔ 375By similarity
    Disulfide bondi357 ↔ 386By similarity

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    EPDiQ8NBI6.
    MaxQBiQ8NBI6.
    PaxDbiQ8NBI6.
    PeptideAtlasiQ8NBI6.
    PRIDEiQ8NBI6.

    PTM databases

    iPTMnetiQ8NBI6.
    PhosphoSitePlusiQ8NBI6.

    Expressioni

    Gene expression databases

    BgeeiENSG00000173950.
    CleanExiHS_C3orf21.
    ExpressionAtlasiQ8NBI6. baseline and differential.
    GenevisibleiQ8NBI6. HS.

    Interactioni

    Subunit structurei

    Homodimer (PubMed:22117070). Dimer formation may be essential for the retention in endoplasmic reticulum (Probable).Curated1 Publication

    Protein-protein interaction databases

    BioGridi127415. 9 interactors.
    STRINGi9606.ENSP00000309640.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NBI6.
    SMRiQ8NBI6.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni104 – 106UDP-alpha-D-xylose bindingBy similarity3
    Regioni263 – 266Interaction with target proteinsBy similarity4

    Sequence similaritiesi

    Belongs to the glycosyltransferase 8 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiKOG3765. Eukaryota.
    ENOG410XRNY. LUCA.
    GeneTreeiENSGT00530000063165.
    HOGENOMiHOG000007690.
    HOVERGENiHBG061240.
    InParanoidiQ8NBI6.
    OMAiCAEKISD.
    OrthoDBiEOG091G0GY6.
    PhylomeDBiQ8NBI6.
    TreeFamiTF323210.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR002495. Glyco_trans_8.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PfamiPF01501. Glyco_transf_8. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

    Isoform 1 (identifier: Q8NBI6-1) [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
    MGLLRGGLPC ARAMARLGAV RSHYCALLLA AALAVCAFYY LGSGRETFSS
    60 70 80 90 100
    ATKRLKEARA GAPAAPSPPA LELARGSVAP APGAKAKSLE GGGAGPVDYH
    110 120 130 140 150
    LLMMFTKAEH NAALQAKARV ALRSLLRLAK FEAHEVLNLH FVSEEASREV
    160 170 180 190 200
    AKGLLRELLP PAAGFKCKVI FHDVAVLTDK LFPIVEAMQK HFSAGLGTYY
    210 220 230 240 250
    SDSIFFLSVA MHQIMPKEIL QIIQLDLDLK FKTNIRELFE EFDSFLPGAI
    260 270 280 290 300
    IGIAREMQPV YRHTFWQFRH ENPQTRVGGP PPEGLPGFNS GVMLLNLEAM
    310 320 330 340 350
    RQSPLYSRLL EPAQVQQLAD KYHFRGHLGD QDFFTMIGME HPKLFHVLDC
    360 370 380 390
    TWNRQLCTWW RDHGYSDVFE AYFRCEGHVK IYHGNCNTPI PED
    Length:393
    Mass (Da):43,807
    Last modified:October 1, 2002 - v1
    Checksum:i3C788AFDF933A23D
    GO
    Isoform 2 (identifier: Q8NBI6-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-203: Missing.
         204-217: IFFLSVAMHQIMPK → MWPPRCKDPGRQSA

    Note: No experimental confirmation available.
    Show »
    Length:190
    Mass (Da):22,304
    Checksum:i8E76B9CC7AFB4FD5
    GO
    Isoform 3 (identifier: Q8NBI6-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-203: Missing.
         204-206: Missing.
         207-262: LSVAMHQIMP...IAREMQPVYR → MNGMSVLMKE...WSWTSQPLEL

    Note: No experimental confirmation available.
    Show »
    Length:187
    Mass (Da):21,817
    Checksum:i9A49152D460573D2
    GO

    Sequence cautioni

    The sequence AAH19036 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_0183151 – 203Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST203
    Alternative sequenceiVSP_018317204 – 217IFFLS…QIMPK → MWPPRCKDPGRQSA in isoform 2. 1 PublicationAdd BLAST14
    Alternative sequenceiVSP_018316204 – 206Missing in isoform 3. 1 Publication3
    Alternative sequenceiVSP_018318207 – 262LSVAM…QPVYR → MNGMSVLMKETLKSSVTPSP YEETGERQPSVNWAVSPHQT QNQWARWSWTSQPLEL in isoform 3. 1 PublicationAdd BLAST56

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AK057046 mRNA. Translation: BAB71355.1.
    AK092474 mRNA. Translation: BAC03899.1.
    AK075551 mRNA. Translation: BAC11694.1.
    CH471052 Genomic DNA. Translation: EAW78028.1.
    CH471052 Genomic DNA. Translation: EAW78029.1.
    BC019036 mRNA. Translation: AAH19036.1. Different initiation.
    BC039067 mRNA. Translation: AAH39067.2.
    CCDSiCCDS43188.1. [Q8NBI6-1]
    RefSeqiNP_689744.3. NM_152531.4. [Q8NBI6-1]
    XP_016861239.1. XM_017005750.1. [Q8NBI6-2]
    UniGeneiHs.478741.
    Hs.744847.

    Genome annotation databases

    EnsembliENST00000310380; ENSP00000309640; ENSG00000173950. [Q8NBI6-1]
    ENST00000356740; ENSP00000349179; ENSG00000173950. [Q8NBI6-3]
    ENST00000437101; ENSP00000409865; ENSG00000173950. [Q8NBI6-2]
    GeneIDi152002.
    KEGGihsa:152002.
    UCSCiuc003fuk.4. human. [Q8NBI6-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AK057046 mRNA. Translation: BAB71355.1.
    AK092474 mRNA. Translation: BAC03899.1.
    AK075551 mRNA. Translation: BAC11694.1.
    CH471052 Genomic DNA. Translation: EAW78028.1.
    CH471052 Genomic DNA. Translation: EAW78029.1.
    BC019036 mRNA. Translation: AAH19036.1. Different initiation.
    BC039067 mRNA. Translation: AAH39067.2.
    CCDSiCCDS43188.1. [Q8NBI6-1]
    RefSeqiNP_689744.3. NM_152531.4. [Q8NBI6-1]
    XP_016861239.1. XM_017005750.1. [Q8NBI6-2]
    UniGeneiHs.478741.
    Hs.744847.

    3D structure databases

    ProteinModelPortaliQ8NBI6.
    SMRiQ8NBI6.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi127415. 9 interactors.
    STRINGi9606.ENSP00000309640.

    Protein family/group databases

    CAZyiGT8. Glycosyltransferase Family 8.

    PTM databases

    iPTMnetiQ8NBI6.
    PhosphoSitePlusiQ8NBI6.

    Polymorphism and mutation databases

    BioMutaiXXYLT1.
    DMDMi74751171.

    Proteomic databases

    EPDiQ8NBI6.
    MaxQBiQ8NBI6.
    PaxDbiQ8NBI6.
    PeptideAtlasiQ8NBI6.
    PRIDEiQ8NBI6.

    Protocols and materials databases

    DNASUi152002.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000310380; ENSP00000309640; ENSG00000173950. [Q8NBI6-1]
    ENST00000356740; ENSP00000349179; ENSG00000173950. [Q8NBI6-3]
    ENST00000437101; ENSP00000409865; ENSG00000173950. [Q8NBI6-2]
    GeneIDi152002.
    KEGGihsa:152002.
    UCSCiuc003fuk.4. human. [Q8NBI6-1]

    Organism-specific databases

    CTDi152002.
    DisGeNETi152002.
    GeneCardsiXXYLT1.
    H-InvDBHIX0017512.
    HGNCiHGNC:26639. XXYLT1.
    MIMi614552. gene.
    neXtProtiNX_Q8NBI6.
    OpenTargetsiENSG00000173950.
    PharmGKBiPA134925222.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG3765. Eukaryota.
    ENOG410XRNY. LUCA.
    GeneTreeiENSGT00530000063165.
    HOGENOMiHOG000007690.
    HOVERGENiHBG061240.
    InParanoidiQ8NBI6.
    OMAiCAEKISD.
    OrthoDBiEOG091G0GY6.
    PhylomeDBiQ8NBI6.
    TreeFamiTF323210.

    Enzyme and pathway databases

    SIGNORiQ8NBI6.

    Miscellaneous databases

    ChiTaRSiXXYLT1. human.
    GenomeRNAii152002.
    PROiQ8NBI6.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000173950.
    CleanExiHS_C3orf21.
    ExpressionAtlasiQ8NBI6. baseline and differential.
    GenevisibleiQ8NBI6. HS.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR002495. Glyco_trans_8.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PfamiPF01501. Glyco_transf_8. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.
    ProtoNetiSearch...

    Entry informationi

    Entry nameiXXLT1_HUMAN
    AccessioniPrimary (citable) accession number: Q8NBI6
    Secondary accession number(s): D3DNW5
    , Q8NAL3, Q8WV03, Q96ME0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 16, 2006
    Last sequence update: October 1, 2002
    Last modified: November 30, 2016
    This is version 106 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

    Caution

    It is uncertain whether Met-1 or Met-14 is the initiator.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. 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.