B3GALT6 beta-1,3-galactosyltransferase 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B3GALT6provided by HGNC
Official Full Name: beta-1,3-galactosyltransferase 6provided by HGNC
Primary source: HGNC:HGNC:17978
See related: Ensembl:ENSG00000176022 MIM:615291; AllianceGenome:HGNC:17978
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ALGAZ; EDSP2; EDSSPD2; SEMDJL1; beta3GalT6
Summary: The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]
Orthologs: mouse all
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Genomic context

Location:: 1p36.33

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (1232237..1235041)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (660694..663498)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (1167617..1170421)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

B3GALT6 promotes dormant breast cancer cell survival and recurrence by enabling heparan sulfate-mediated FGF signaling.
Title: B3GALT6 promotes dormant breast cancer cell survival and recurrence by enabling heparan sulfate-mediated FGF signaling.
Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease.
Title: Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease.
Keratoconus in a patient with B3GALT6-related disorder.
Title: Keratoconus in a patient with B3GALT6-related disorder.
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Title: Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Defineed some of the clinical features of B4GALT7 and B3GALT6-related conditions and underlined the extreme hypermobility of distal joints and the soft, doughy skin on the hands and feet as features that may be useful as the first clues for a correct diagnosis.
Title: Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
These findings confirm the involvement of B3GALT6 in the pathogenesis of Al-Gazali syndrome.
Title: A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.
This study redefines the phenotype associated with B3GALT6 mutations on the basis of clinical, molecular and biochemical data in 12 patients, and provides an in-depth assessment of beta3GalT6 activity and glycosaminoglycan synthesis.
Title: Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Genetic association between B3GALT6 and Ehlers-Danlos-syndrome-like connective tissue disorder in 3 families.
Title: Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.
B3GALT6 encoding an enzyme involved in the biosynthesis of the GAG linker region is responsible for a severe skeletal dysplasia, spondyloepimetaphyseal dysplasia with joint laxity type 1.
Title: Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Al-Gazali syndrome MedGen: C1836121 OMIM: 609465 GeneReviews: Not available	Compare labs
Ehlers-Danlos syndrome, spondylodysplastic type, 2 MedGen: C3809210 OMIM: 615349 GeneReviews: Not available	Compare labs
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures MedGen: C4017377 OMIM: 271640 GeneReviews: Not available	Compare labs

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74127 (e-PCR)
- UniSTS:69650

NoName (e-PCR)
- UniSTS:484488

SHGC-74129 (e-PCR)
- UniSTS:19083

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables UDP-galactosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables galactosylxylosylprotein 3-beta-galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables galactosylxylosylprotein 3-beta-galactosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables galactosylxylosylprotein 3-beta-galactosyltransferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in chondroitin sulfate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in glycosaminoglycan biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycosaminoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycosaminoglycan metabolic process	TAS Traceable Author Statement more info
involved_in heparan sulfate proteoglycan biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IMP Inferred from Mutant Phenotype more info	PubMed
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi medial cisterna	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: beta-1,3-galactosyltransferase 6

Names: GAG GalTII; UDP-Gal:betaGal beta 1,3-galactosyltransferase 6; UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6; UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6; beta-1,3-GalTase 6; beta3Gal-T6; galactosyltransferase II; galactosylxylosylprotein 3-beta-galactosyltransferase

NP_542172.2

EC 2.4.1.134

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.