Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Beta-1,3-galactosyltransferase 6

Gene

B3GALT6

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

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

<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

Mn2+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.
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.

<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

  • galactosyltransferase activity Source: GO_Central
  • galactosylxylosylprotein 3-beta-galactosyltransferase activity Source: Reactome
  • UDP-galactosyltransferase activity Source: UniProtKB

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
LigandManganese

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS10991-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.4.1.134 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-4420332 Defective B3GALT6 causes EDSP2 and SEMDJL1

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

More...
UniPathwayi
UPA00755

UPA00756

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GT31 Glycosyltransferase Family 31

<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:
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
<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:B3GALT6
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000176022.4

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17978 B3GALT6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615291 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96L58

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

Keywords - Cellular componenti

Golgi apparatus, Membrane

<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

Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD2 is an autosomal recessive form 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
<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_0701326R → W in EDSSPD2. 1 PublicationCorresponds to variant dbSNP:rs397514722EnsemblClinVar.1
Natural variantiVAR_070135139 – 141Missing in EDSSPD2. 1 Publication3
Natural variantiVAR_070141309S → T in EDSSPD2. 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

DisGeNET

More...
DisGeNETi
126792

MalaCards human disease database

More...
MalaCardsi
B3GALT6
MIMi271640 phenotype
615349 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000176022

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

More...
Orphaneti
75496 Ehlers-Danlos syndrome, progeroid type
93359 Spondyloepimetaphyseal dysplasia with joint laxity

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25214

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
B3GALT6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
61211870

<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_00002191681 – 329Beta-1,3-galactosyltransferase 6Add BLAST329

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>Glycosylationi131N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96L58

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96L58

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96L58

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

More...
PaxDbi
Q96L58

PeptideAtlas

More...
PeptideAtlasi
Q96L58

PRoteomics IDEntifications database

More...
PRIDEi
Q96L58

ProteomicsDB human proteome resource

More...
ProteomicsDBi
77152

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1030

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96L58

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

More...
PhosphoSitePlusi
Q96L58

<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

Ubiquitous.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000176022 Expressed in 191 organ(s), highest expression level in tendon of biceps brachii

CleanEx database of gene expression profiles

More...
CleanExi
HS_B3GALT6

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96L58 HS

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
126016, 7 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000368496

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q96L58

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi47 – 52Poly-Pro6

<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

Belongs to the glycosyltransferase 31 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2288 Eukaryota
ENOG410XV5H LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162229

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230579

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG050652

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96L58

KEGG Orthology (KO)

More...
KOi
K00734

Identification of Orthologs from Complete Genome Data

More...
OMAi
HRTLTHE

Database of Orthologous Groups

More...
OrthoDBi
640360at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96L58

TreeFam database of animal gene trees

More...
TreeFami
TF314311

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002659 Glyco_trans_31

The PANTHER Classification System

More...
PANTHERi
PTHR11214 PTHR11214, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01762 Galactosyl_T, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<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.

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
<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:iF4E2A219B1DC11F7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti2K → N in AAL11442 (PubMed:11551958).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0701326R → W in EDSSPD2. 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 EDSSPD2. 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 EDSSPD2. 1 PublicationCorresponds to variant dbSNP:rs397514721EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY050570 mRNA Translation: AAL11442.1
AL162741 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13.1

NCBI Reference Sequences

More...
RefSeqi
NP_542172.2, NM_080605.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.284284

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000379198; ENSP00000368496; ENSG00000176022
ENST00000647651; ENSP00000496787; ENSG00000176022

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
126792

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:126792

UCSC genome browser

More...
UCSCi
uc001adk.4 human

Keywords - Coding sequence diversityi

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Functional Glycomics Gateway - GTase

Beta-1,3-galactosyltransferase 6

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

3D structure databases

ProteinModelPortaliQ96L58
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126016, 7 interactors
STRINGi9606.ENSP00000368496

Protein family/group databases

CAZyiGT31 Glycosyltransferase Family 31

PTM databases

GlyConnecti1030
iPTMnetiQ96L58
PhosphoSitePlusiQ96L58

Polymorphism and mutation databases

BioMutaiB3GALT6
DMDMi61211870

Proteomic databases

EPDiQ96L58
jPOSTiQ96L58
MaxQBiQ96L58
PaxDbiQ96L58
PeptideAtlasiQ96L58
PRIDEiQ96L58
ProteomicsDBi77152

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
126792
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379198; ENSP00000368496; ENSG00000176022
ENST00000647651; ENSP00000496787; ENSG00000176022
GeneIDi126792
KEGGihsa:126792
UCSCiuc001adk.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
126792
DisGeNETi126792
EuPathDBiHostDB:ENSG00000176022.4

GeneCards: human genes, protein and diseases

More...
GeneCardsi
B3GALT6

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0028666
HGNCiHGNC:17978 B3GALT6
MalaCardsiB3GALT6
MIMi271640 phenotype
615291 gene
615349 phenotype
neXtProtiNX_Q96L58
OpenTargetsiENSG00000176022
Orphaneti75496 Ehlers-Danlos syndrome, progeroid type
93359 Spondyloepimetaphyseal dysplasia with joint laxity
PharmGKBiPA25214

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2288 Eukaryota
ENOG410XV5H LUCA
GeneTreeiENSGT00940000162229
HOGENOMiHOG000230579
HOVERGENiHBG050652
InParanoidiQ96L58
KOiK00734
OMAiHRTLTHE
OrthoDBi640360at2759
PhylomeDBiQ96L58
TreeFamiTF314311

Enzyme and pathway databases

UniPathwayi
UPA00755

UPA00756

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
B3GALT6 human

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

More...
GenomeRNAii
126792

Protein Ontology

More...
PROi
PR:Q96L58

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000176022 Expressed in 191 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_B3GALT6
GenevisibleiQ96L58 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiB3GT6_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: Q96L58
Secondary accession number(s): Q5T7M5
<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: March 15, 2005
Last sequence update: March 15, 2005
Last modified: January 16, 2019
This is version 144 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. 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again