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Protein

Glucoside xylosyltransferase 1

Gene

GXYLT1

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

Functioni

Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose.1 Publication

Catalytic activityi

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

GO - Molecular functioni

  • protein xylosyltransferase activity Source: Reactome
  • UDP-xylosyltransferase activity Source: UniProtKB

GO - Biological processi

  • glycosaminoglycan metabolic process Source: Reactome
  • O-glycan processing Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

ReactomeiR-HSA-1971475. A tetrasaccharide linker sequence is required for GAG synthesis.
SIGNORiQ4G148.

Protein family/group databases

CAZyiGT8. Glycosyltransferase Family 8.

Names & Taxonomyi

Protein namesi
Recommended name:
Glucoside xylosyltransferase 1 (EC:2.4.2.n2)
Alternative name(s):
Glycosyltransferase 8 domain-containing protein 3
Gene namesi
Name:GXYLT1
Synonyms:GLT8D3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:27482. GXYLT1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66CytoplasmicSequence analysis
Transmembranei7 – 2923Helical; Signal-anchor for type II membrane proteinSequence analysisAdd
BLAST
Topological domaini30 – 440411LumenalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165512868.

Polymorphism and mutation databases

BioMutaiGXYLT1.
DMDMi269849602.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 440440Glucoside xylosyltransferase 1PRO_0000288534Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi173 – 1731N-linked (GlcNAc...)Sequence analysis
Glycosylationi237 – 2371N-linked (GlcNAc...)1 Publication
Glycosylationi278 – 2781N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ4G148.
MaxQBiQ4G148.
PaxDbiQ4G148.
PeptideAtlasiQ4G148.
PRIDEiQ4G148.

PTM databases

iPTMnetiQ4G148.
PhosphoSiteiQ4G148.

Expressioni

Gene expression databases

BgeeiQ4G148.
CleanExiHS_GLT8D3.
GenevisibleiQ4G148. HS.

Interactioni

Protein-protein interaction databases

BioGridi129573. 8 interactions.
STRINGi9606.ENSP00000381666.

Structurei

3D structure databases

ProteinModelPortaliQ4G148.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 8 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3765. Eukaryota.
ENOG410XRNY. LUCA.
GeneTreeiENSGT00510000046589.
HOGENOMiHOG000264229.
HOVERGENiHBG059879.
InParanoidiQ4G148.
KOiK13676.
OMAiSLCYWNP.
OrthoDBiEOG7W6WMC.
PhylomeDBiQ4G148.
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 (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q4G148-1) [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
MRRYLRVVVL CVACGFCSLL YAFSQLAVSL EEGTGGGGGK PQAAVASWLA
60 70 80 90 100
GGGRGAVRGA GVAGPAAHPG VSDRCKDFSL CYWNPYWMLP SDVCGMNCFW
110 120 130 140 150
EAAFRYSLKI QPVEKMHLAV VACGERLEET MTMLKSAIIF SIKPLQFHIF
160 170 180 190 200
AEDQLHHSFK GRLDNWSFLQ TFNYTLYPIT FPSENAAEWK KLFKPCASQR
210 220 230 240 250
LFLPLILKEV DSLLYVDTDI LFLRPVDDIW SLLKKFNSTQ IAAMAPEHEE
260 270 280 290 300
PRIGWYNRFA RHPYYGKTGV NSGVMLMNMT RMRRKYFKND MTTVRLQWGD
310 320 330 340 350
ILMPLLKKYK LNITWGDQDL LNIVFFHNPE SLFVFPCQWN YRPDHCIYGS
360 370 380 390 400
NCQEAEEGGI FILHGNRGVY HDDKQPAFRA VYEALRNCSF EDDNIRSLLK
410 420 430 440
PLELELQKTV HTYCGKIYKI FIKQLAKSVR DRYARSPKEK
Length:440
Mass (Da):50,567
Last modified:November 24, 2009 - v2
Checksum:i1A68504D913DBF0E
GO
Isoform 2 (identifier: Q4G148-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     74-104: Missing.

Show »
Length:409
Mass (Da):46,800
Checksum:i668EAEE388CD2C8E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti211 – 2111D → N in AAH30023 (PubMed:15489334).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei74 – 10431Missing in isoform 2. 2 PublicationsVSP_025709Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK125141 mRNA. Translation: BAG54154.1.
CH471111 Genomic DNA. Translation: EAW57832.1.
BC015597 mRNA. Translation: AAH15597.2.
BC030023 mRNA. Translation: AAH30023.1.
BC039145 mRNA. Translation: AAH39145.1.
CCDSiCCDS41771.1. [Q4G148-2]
CCDS41772.1. [Q4G148-1]
RefSeqiNP_001093120.1. NM_001099650.1. [Q4G148-2]
NP_775872.1. NM_173601.1. [Q4G148-1]
UniGeneiHs.259347.

Genome annotation databases

EnsembliENST00000280876; ENSP00000280876; ENSG00000151233. [Q4G148-2]
ENST00000398675; ENSP00000381666; ENSG00000151233. [Q4G148-1]
GeneIDi283464.
KEGGihsa:283464.
UCSCiuc001rms.5. human. [Q4G148-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK125141 mRNA. Translation: BAG54154.1.
CH471111 Genomic DNA. Translation: EAW57832.1.
BC015597 mRNA. Translation: AAH15597.2.
BC030023 mRNA. Translation: AAH30023.1.
BC039145 mRNA. Translation: AAH39145.1.
CCDSiCCDS41771.1. [Q4G148-2]
CCDS41772.1. [Q4G148-1]
RefSeqiNP_001093120.1. NM_001099650.1. [Q4G148-2]
NP_775872.1. NM_173601.1. [Q4G148-1]
UniGeneiHs.259347.

3D structure databases

ProteinModelPortaliQ4G148.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129573. 8 interactions.
STRINGi9606.ENSP00000381666.

Protein family/group databases

CAZyiGT8. Glycosyltransferase Family 8.

PTM databases

iPTMnetiQ4G148.
PhosphoSiteiQ4G148.

Polymorphism and mutation databases

BioMutaiGXYLT1.
DMDMi269849602.

Proteomic databases

EPDiQ4G148.
MaxQBiQ4G148.
PaxDbiQ4G148.
PeptideAtlasiQ4G148.
PRIDEiQ4G148.

Protocols and materials databases

DNASUi283464.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000280876; ENSP00000280876; ENSG00000151233. [Q4G148-2]
ENST00000398675; ENSP00000381666; ENSG00000151233. [Q4G148-1]
GeneIDi283464.
KEGGihsa:283464.
UCSCiuc001rms.5. human. [Q4G148-1]

Organism-specific databases

CTDi283464.
GeneCardsiGXYLT1.
H-InvDBHIX0010550.
HGNCiHGNC:27482. GXYLT1.
MIMi613321. gene.
neXtProtiNX_Q4G148.
PharmGKBiPA165512868.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3765. Eukaryota.
ENOG410XRNY. LUCA.
GeneTreeiENSGT00510000046589.
HOGENOMiHOG000264229.
HOVERGENiHBG059879.
InParanoidiQ4G148.
KOiK13676.
OMAiSLCYWNP.
OrthoDBiEOG7W6WMC.
PhylomeDBiQ4G148.
TreeFamiTF323210.

Enzyme and pathway databases

ReactomeiR-HSA-1971475. A tetrasaccharide linker sequence is required for GAG synthesis.
SIGNORiQ4G148.

Miscellaneous databases

ChiTaRSiGXYLT1. human.
GenomeRNAii283464.
PROiQ4G148.
SOURCEiSearch...

Gene expression databases

BgeeiQ4G148.
CleanExiHS_GLT8D3.
GenevisibleiQ4G148. 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...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Placenta and Testis.
  4. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
    Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
    J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-278.
    Tissue: Plasma.
  5. "Identification of glycosyltransferase 8 family members as xylosyltransferases acting on o-glucosylated notch epidermal growth factor repeats."
    Sethi M.K., Buettner F.F., Krylov V.B., Takeuchi H., Nifantiev N.E., Haltiwanger R.S., Gerardy-Schahn R., Bakker H.
    J. Biol. Chem. 285:1582-1586(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  6. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-237.
    Tissue: Liver.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiGXLT1_HUMAN
AccessioniPrimary (citable) accession number: Q4G148
Secondary accession number(s): B3KWJ2, Q8IXV1, Q96BH4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: November 24, 2009
Last modified: July 6, 2016
This is version 95 of the entry and version 2 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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.