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Protein

Beta-1,3-glucosyltransferase

Gene

B3GLCT

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

Functioni

O-glucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan.1 Publication

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

  • acetylglucosaminyltransferase activity Source: GO_Central
  • transferase activity, transferring glycosyl groups Source: Reactome

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase
Biological processCarbohydrate metabolism, Fucose metabolism

Enzyme and pathway databases

ReactomeiR-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins
UniPathwayi
UPA00378

Protein family/group databases

CAZyiGT31 Glycosyltransferase Family 31

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-1,3-glucosyltransferase (EC:2.4.1.-)
Short name:
Beta3Glc-T
Alternative name(s):
Beta 3-glucosyltransferaseImported
Beta-3-glycosyltransferase-like
Gene namesi
Name:B3GLCTImported
Synonyms:B3GALTL, B3GTL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000187676.7
HGNCiHGNC:20207 B3GLCT
MIMi610308 gene
neXtProtiNX_Q6Y288

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 6CytoplasmicSequence analysis6
Transmembranei7 – 27Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini28 – 498LumenalSequence analysisAdd BLAST471

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Peters-plus syndrome (PPLS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate.
See also OMIM:261540

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi495 – 498Missing : Abolishes endoplasmic reticulum localization. 1 Publication4

Keywords - Diseasei

Congenital disorder of glycosylation

Organism-specific databases

DisGeNETi145173
GeneReviewsiB3GALTL
MalaCardsiB3GLCT
MIMi261540 phenotype
OpenTargetsiENSG00000187676
Orphaneti709 Peters plus syndrome
PharmGKBiPA144596515

Polymorphism and mutation databases

BioMutaiB3GALTL
DMDMi116243011

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002523991 – 498Beta-1,3-glucosyltransferaseAdd BLAST498

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi336N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ6Y288
MaxQBiQ6Y288
PaxDbiQ6Y288
PeptideAtlasiQ6Y288
PRIDEiQ6Y288
ProteomicsDBi67832

PTM databases

iPTMnetiQ6Y288
PhosphoSitePlusiQ6Y288
SwissPalmiQ6Y288

Expressioni

Tissue specificityi

Widely expressed, with highest levels in testis and uterus.2 Publications

Gene expression databases

BgeeiENSG00000187676 Expressed in 170 organ(s), highest expression level in female gonad
CleanExiHS_B3GALTL
GenevisibleiQ6Y288 HS

Interactioni

Protein-protein interaction databases

BioGridi126890, 21 interactors
IntActiQ6Y288, 4 interactors
STRINGi9606.ENSP00000343002

Structurei

3D structure databases

ProteinModelPortaliQ6Y288
SMRiQ6Y288
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi495 – 498Prevents secretion from ER4

Sequence similaritiesi

Belongs to the glycosyltransferase 31 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE18 Eukaryota
ENOG410XWFG LUCA
GeneTreeiENSGT00530000063264
HOGENOMiHOG000007375
HOVERGENiHBG059386
InParanoidiQ6Y288
KOiK13675
OMAiPEFCTDD
OrthoDBiEOG091G09KK
PhylomeDBiQ6Y288
TreeFamiTF313496

Family and domain databases

InterProiView protein in InterPro
IPR003378 Fringe-like
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF02434 Fringe, 2 hits
SUPFAMiSSF53448 SSF53448, 1 hit
PROSITEiView protein in PROSITE
PS00014 ER_TARGET, 1 hit

Sequencei

Sequence statusi: Complete.

Q6Y288-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRPPACWWLL APPALLALLT CSLAFGLASE DTKKEVKQSQ DLEKSGISRK
60 70 80 90 100
NDIDLKGIVF VIQSQSNSFH AKRAEQLKKS ILKQAADLTQ ELPSVLLLHQ
110 120 130 140 150
LAKQEGAWTI LPLLPHFSVT YSRNSSWIFF CEEETRIQIP KLLETLRRYD
160 170 180 190 200
PSKEWFLGKA LHDEEATIIH HYAFSENPTV FKYPDFAAGW ALSIPLVNKL
210 220 230 240 250
TKRLKSESLK SDFTIDLKHE IALYIWDKGG GPPLTPVPEF CTNDVDFYCA
260 270 280 290 300
TTFHSFLPLC RKPVKKKDIF VAVKTCKKFH GDRIPIVKQT WESQASLIEY
310 320 330 340 350
YSDYTENSIP TVDLGIPNTD RGHCGKTFAI LERFLNRSQD KTAWLVIVDD
360 370 380 390 400
DTLISISRLQ HLLSCYDSGE PVFLGERYGY GLGTGGYSYI TGGGGMVFSR
410 420 430 440 450
EAVRRLLASK CRCYSNDAPD DMVLGMCFSG LGIPVTHSPL FHQARPVDYP
460 470 480 490
KDYLSHQVPI SFHKHWNIDP VKVYFTWLAP SDEDKARQET QKGFREEL
Length:498
Mass (Da):56,564
Last modified:October 17, 2006 - v2
Checksum:iCDC6A479A1564D48
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti284I → M in AAH68595 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027849370E → K4 PublicationsCorresponds to variant dbSNP:rs1041073EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY190526 mRNA Translation: AAO37647.1
AB101481 mRNA Translation: BAD13528.1
AK291273 mRNA Translation: BAF83962.1
AL137142 Genomic DNA No translation available.
AL138965 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08483.1
BC068595 mRNA Translation: AAH68595.1
CCDSiCCDS9341.1
RefSeqiNP_919299.3, NM_194318.3
UniGeneiHs.13205

Genome annotation databases

EnsembliENST00000343307; ENSP00000343002; ENSG00000187676
GeneIDi145173
KEGGihsa:145173
UCSCiuc010aaz.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY190526 mRNA Translation: AAO37647.1
AB101481 mRNA Translation: BAD13528.1
AK291273 mRNA Translation: BAF83962.1
AL137142 Genomic DNA No translation available.
AL138965 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08483.1
BC068595 mRNA Translation: AAH68595.1
CCDSiCCDS9341.1
RefSeqiNP_919299.3, NM_194318.3
UniGeneiHs.13205

3D structure databases

ProteinModelPortaliQ6Y288
SMRiQ6Y288
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126890, 21 interactors
IntActiQ6Y288, 4 interactors
STRINGi9606.ENSP00000343002

Protein family/group databases

CAZyiGT31 Glycosyltransferase Family 31

PTM databases

iPTMnetiQ6Y288
PhosphoSitePlusiQ6Y288
SwissPalmiQ6Y288

Polymorphism and mutation databases

BioMutaiB3GALTL
DMDMi116243011

Proteomic databases

EPDiQ6Y288
MaxQBiQ6Y288
PaxDbiQ6Y288
PeptideAtlasiQ6Y288
PRIDEiQ6Y288
ProteomicsDBi67832

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343307; ENSP00000343002; ENSG00000187676
GeneIDi145173
KEGGihsa:145173
UCSCiuc010aaz.4 human

Organism-specific databases

CTDi145173
DisGeNETi145173
EuPathDBiHostDB:ENSG00000187676.7
GeneCardsiB3GLCT
GeneReviewsiB3GALTL
H-InvDBiHIX0011217
HGNCiHGNC:20207 B3GLCT
MalaCardsiB3GLCT
MIMi261540 phenotype
610308 gene
neXtProtiNX_Q6Y288
OpenTargetsiENSG00000187676
Orphaneti709 Peters plus syndrome
PharmGKBiPA144596515
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE18 Eukaryota
ENOG410XWFG LUCA
GeneTreeiENSGT00530000063264
HOGENOMiHOG000007375
HOVERGENiHBG059386
InParanoidiQ6Y288
KOiK13675
OMAiPEFCTDD
OrthoDBiEOG091G09KK
PhylomeDBiQ6Y288
TreeFamiTF313496

Enzyme and pathway databases

UniPathwayi
UPA00378

ReactomeiR-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins

Miscellaneous databases

ChiTaRSiB3GLCT human
GeneWikiiB3GALTL
GenomeRNAii145173
PROiPR:Q6Y288
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187676 Expressed in 170 organ(s), highest expression level in female gonad
CleanExiHS_B3GALTL
GenevisibleiQ6Y288 HS

Family and domain databases

InterProiView protein in InterPro
IPR003378 Fringe-like
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF02434 Fringe, 2 hits
SUPFAMiSSF53448 SSF53448, 1 hit
PROSITEiView protein in PROSITE
PS00014 ER_TARGET, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiB3GLT_HUMAN
AccessioniPrimary (citable) accession number: Q6Y288
Secondary accession number(s): A8K5F8, Q5W0H2, Q6NUI3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 122 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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