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Protein

Beta-1,3-galactosyltransferase 6

Gene

B3GALT6

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

Functioni

Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues.1 Publication

Caution

PubMed:9892646 describes the wrong protein; the cDNAs used had been switched inadvertently.Curated

Catalytic activityi

UDP-alpha-D-galactose + 4-beta-D-galactosyl-O-beta-D-xylosyl-[protein] = UDP + 3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosyl-[protein].

Cofactori

Mn2+1 Publication

Pathwayi: chondroitin sulfate biosynthesis

This protein is involved in the pathway chondroitin sulfate biosynthesis, which is part of Glycan metabolism.
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.
View all proteins of this organism that are known to be involved in the pathway heparan sulfate biosynthesis and in Glycan metabolism.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase
LigandManganese

Enzyme and pathway databases

BioCyciMetaCyc:HS10991-MONOMER
BRENDAi2.4.1.134 2681
ReactomeiR-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-4420332 Defective B3GALT6 causes EDSP2 and SEMDJL1
UniPathwayiUPA00755
UPA00756

Protein family/group databases

CAZyiGT31 Glycosyltransferase Family 31

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-1,3-galactosyltransferase 6 (EC:2.4.1.134)
Short name:
Beta-1,3-GalTase 6
Short name:
Beta3Gal-T6
Short name:
Beta3GalT6
Alternative name(s):
GAG GalTII
Galactosyltransferase II
Galactosylxylosylprotein 3-beta-galactosyltransferase
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
Gene namesi
Name:B3GALT6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000176022.4
HGNCiHGNC:17978 B3GALT6
MIMi615291 gene
neXtProtiNX_Q96L58

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 – 11CytoplasmicSequence analysisAdd BLAST11
Transmembranei12 – 34Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST23
Topological domaini35 – 329LumenalSequence analysisAdd BLAST295

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA variant form of Ehlers-Danlos syndrome characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin.
See also OMIM:615349
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0701326R → W in EDSP2. 1 PublicationCorresponds to variant dbSNP:rs397514722EnsemblClinVar.1
Natural variantiVAR_070135139 – 141Missing in EDSP2. 1 Publication3
Natural variantiVAR_070141309S → T in EDSP2. 1 PublicationCorresponds to variant dbSNP:rs397514721EnsemblClinVar.1
Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed.
See also OMIM:271640
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07013365S → G in SEMDJL1; the activity of the enzyme is significantly decreased. 1 PublicationCorresponds to variant dbSNP:rs397514719EnsemblClinVar.1
Natural variantiVAR_07013467P → L in SEMDJL1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs397514720EnsemblClinVar.1
Natural variantiVAR_070136156D → N in SEMDJL1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs397514718EnsemblClinVar.1
Natural variantiVAR_070137207D → H in SEMDJL1. 1 PublicationCorresponds to variant dbSNP:rs397514723EnsemblClinVar.1
Natural variantiVAR_070138217G → S in SEMDJL1. 1 PublicationCorresponds to variant dbSNP:rs397514724EnsemblClinVar.1
Natural variantiVAR_070139232R → C in SEMDJL1; the activity of the enzyme is significantly decreased. 1 PublicationCorresponds to variant dbSNP:rs397514717EnsemblClinVar.1
Natural variantiVAR_070140300C → S in SEMDJL1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs786200939EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism, Ehlers-Danlos syndrome

Organism-specific databases

DisGeNETi126792
MalaCardsiB3GALT6
MIMi271640 phenotype
615349 phenotype
OpenTargetsiENSG00000176022
Orphaneti75496 Ehlers-Danlos syndrome, progeroid type
93359 Spondyloepimetaphyseal dysplasia with joint laxity
PharmGKBiPA25214

Polymorphism and mutation databases

BioMutaiB3GALT6
DMDMi61211870

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002191681 – 329Beta-1,3-galactosyltransferase 6Add BLAST329

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi131N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ96L58
MaxQBiQ96L58
PaxDbiQ96L58
PeptideAtlasiQ96L58
PRIDEiQ96L58
ProteomicsDBi77152

PTM databases

iPTMnetiQ96L58
PhosphoSitePlusiQ96L58

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000176022
CleanExiHS_B3GALT6
GenevisibleiQ96L58 HS

Interactioni

Protein-protein interaction databases

BioGridi126016, 7 interactors
STRINGi9606.ENSP00000368496

Structurei

3D structure databases

ProteinModelPortaliQ96L58
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi47 – 52Poly-Pro6

Sequence similaritiesi

Belongs to the glycosyltransferase 31 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2288 Eukaryota
ENOG410XV5H LUCA
GeneTreeiENSGT00530000063810
HOGENOMiHOG000230579
HOVERGENiHBG050652
InParanoidiQ96L58
KOiK00734
OMAiCCQRKDG
OrthoDBiEOG091G0G46
PhylomeDBiQ96L58
TreeFamiTF314311

Family and domain databases

InterProiView protein in InterPro
IPR002659 Glyco_trans_31
PANTHERiPTHR11214 PTHR11214, 1 hit
PfamiView protein in Pfam
PF01762 Galactosyl_T, 1 hit

Sequencei

Sequence statusi: Complete.

Q96L58-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKLLRRAWRR RAALGLGTLA LCGAALLYLA RCAAEPGDPR AMSGRSPPPP
60 70 80 90 100
APARAAAFLA VLVASAPRAA ERRSVIRSTW LARRGAPGDV WARFAVGTAG
110 120 130 140 150
LGAEERRALE REQARHGDLL LLPALRDAYE NLTAKVLAML AWLDEHVAFE
160 170 180 190 200
FVLKADDDSF ARLDALLAEL RAREPARRRR LYWGFFSGRG RVKPGGRWRE
210 220 230 240 250
AAWQLCDYYL PYALGGGYVL SADLVHYLRL SRDYLRAWHS EDVSLGAWLA
260 270 280 290 300
PVDVQREHDP RFDTEYRSRG CSNQYLVTHK QSLEDMLEKH ATLAREGRLC
310 320
KREVQLRLSY VYDWSAPPSQ CCQRREGIP
Length:329
Mass (Da):37,138
Last modified:March 15, 2005 - v2
Checksum:iF4E2A219B1DC11F7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2K → N in AAL11442 (PubMed:11551958).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0701326R → W in EDSP2. 1 PublicationCorresponds to variant dbSNP:rs397514722EnsemblClinVar.1
Natural variantiVAR_07013365S → G in SEMDJL1; the activity of the enzyme is significantly decreased. 1 PublicationCorresponds to variant dbSNP:rs397514719EnsemblClinVar.1
Natural variantiVAR_07013467P → L in SEMDJL1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs397514720EnsemblClinVar.1
Natural variantiVAR_070135139 – 141Missing in EDSP2. 1 Publication3
Natural variantiVAR_070136156D → N in SEMDJL1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs397514718EnsemblClinVar.1
Natural variantiVAR_059317174E → D. Corresponds to variant dbSNP:rs12085009EnsemblClinVar.1
Natural variantiVAR_070137207D → H in SEMDJL1. 1 PublicationCorresponds to variant dbSNP:rs397514723EnsemblClinVar.1
Natural variantiVAR_070138217G → S in SEMDJL1. 1 PublicationCorresponds to variant dbSNP:rs397514724EnsemblClinVar.1
Natural variantiVAR_070139232R → C in SEMDJL1; the activity of the enzyme is significantly decreased. 1 PublicationCorresponds to variant dbSNP:rs397514717EnsemblClinVar.1
Natural variantiVAR_070140300C → S in SEMDJL1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs786200939EnsemblClinVar.1
Natural variantiVAR_070141309S → T in EDSP2. 1 PublicationCorresponds to variant dbSNP:rs397514721EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY050570 mRNA Translation: AAL11442.1
AL162741 Genomic DNA No translation available.
CCDSiCCDS13.1
RefSeqiNP_542172.2, NM_080605.3
UniGeneiHs.284284

Genome annotation databases

EnsembliENST00000379198; ENSP00000368496; ENSG00000176022
GeneIDi126792
KEGGihsa:126792
UCSCiuc001adk.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiB3GT6_HUMAN
AccessioniPrimary (citable) accession number: Q96L58
Secondary accession number(s): Q5T7M5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: March 15, 2005
Last modified: June 20, 2018
This is version 139 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

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