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B3GALT1 beta-1,3-galactosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 8708, updated on 2-Nov-2024

Summary

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Official Symbol
B3GALT1provided by HGNC
Official Full Name
beta-1,3-galactosyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:916
See related
Ensembl:ENSG00000172318 MIM:603093; AllianceGenome:HGNC:916
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
beta3Gal-T1
Summary
This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]
Expression
Biased expression in colon (RPKM 1.2), brain (RPKM 0.9) and 2 other tissues See more
Orthologs
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Genomic context

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See B3GALT1 in Genome Data Viewer
Location:
2q24.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (167293001..167874045)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (167750886..168331887)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (168149511..168730555)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985958 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:167465572-167466152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:167467227-167467749 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:167485044-167485544 Neighboring gene NANOG hESC enhancer GRCh37_chr2:167817284-167817785 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:167844661-167845264 Neighboring gene xin actin binding repeat containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:167943626-167944126 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:167996802-167998001 Neighboring gene XIRP2 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:168131495-168132298 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:168148777-168149390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:168150619-168151231 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:168188999-168189770 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:168188227-168188998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:168187453-168188226 Neighboring gene Sharpr-MPRA regulatory region 15114 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:168262488-168263041 Neighboring gene RNA, U7 small nuclear 148 pseudogene Neighboring gene CTAGE family member 14, pseudogene Neighboring gene B3GALT1 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:168700657-168701624 Neighboring gene NANOG hESC enhancer GRCh37_chr2:168718058-168718586 Neighboring gene uncharacterized LOC124907903 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:168801351-168802550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16730 Neighboring gene NANOG hESC enhancer GRCh37_chr2:168920562-168921101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12071 Neighboring gene serine/threonine kinase 39 Neighboring gene NANOG hESC enhancer GRCh37_chr2:168972872-168973411 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:169067330-169068529 Neighboring gene uncharacterized LOC124906088

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Differential expression of beta1,3galactosyltransferases in human colon cells derived from adenocarcinomas or normal mucosa. Bardoni A, et al. FEBS Lett, 1999 May 14. PMID 10356986
  2. A new allele with 303 base pairs insertion in B3GALT1 gene identified in an individual with P(1) (k) phenotype. Hong X, et al. Transfusion, 2023 Aug. PMID 37283178
  3. Cloning of a human UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase catalyzing the formation of type 1 chains. Kolbinger F, et al. J Biol Chem, 1998 Jan 2. PMID 9417100
  4. Association of the Golgi UDP-galactose transporter with UDP-galactose:ceramide galactosyltransferase allows UDP-galactose import in the endoplasmic reticulum. Sprong H, et al. Mol Biol Cell, 2003 Aug. PMID 12925779, Free PMC Article
  5. A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family. Amado M, et al. J Biol Chem, 1998 May 22. PMID 9582303

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A new allele with 303 base pairs insertion in B3GALT1 gene identified in an individual with P1 [k] phenotype.
    Title: A new allele with 303 base pairs insertion in B3GALT1 gene identified in an individual with P(1) (k) phenotype.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC126594, AC074363.1

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity TAS
Traceable Author Statement
more info
  
enables glucosaminylgalactosylglucosylceramide beta-galactosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in galactosylceramide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lipid glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipid glycosylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in oligosaccharide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in oligosaccharide biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in protein O-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
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 NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
beta-1,3-galactosyltransferase 1
Names
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1
UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1
beta-1,3-GalTase 1
beta3GalT1
NP_066191.1
XP_006712882.1
XP_011510387.1
XP_047302115.1
XP_047302116.1
XP_054200307.1
XP_054200308.1
XP_054200309.1
XP_054200310.1

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.

Genomic

  1. NG_050644.1 RefSeqGene

    Range
    530612..582796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020981.4 → NP_066191.1  beta-1,3-galactosyltransferase 1

    See identical proteins and their annotated locations for NP_066191.1

    Status: REVIEWED

    Source sequence(s)
    AC016723, AC017070, AC074363, AC093684
    Consensus CDS
    CCDS2227.1
    UniProtKB/Swiss-Prot
    D3DPB8, Q53SS2, Q9Y5Z6
    Related
    ENSP00000376456.2, ENST00000392690.4
    Conserved Domains (1) summary
    pfam01762
    Location:92 → 279
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    167293001..167874045
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512085.3 → XP_011510387.1  beta-1,3-galactosyltransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_011510387.1

    UniProtKB/Swiss-Prot
    D3DPB8, Q53SS2, Q9Y5Z6
    Conserved Domains (1) summary
    pfam01762
    Location:92 → 279
    Galactosyl_T; Galactosyltransferase

  2. XM_047446159.1 → XP_047302115.1  beta-1,3-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    D3DPB8, Q53SS2, Q9Y5Z6

  3. XM_047446160.1 → XP_047302116.1  beta-1,3-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    D3DPB8, Q53SS2, Q9Y5Z6

  4. XM_006712819.4 → XP_006712882.1  beta-1,3-galactosyltransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_006712882.1

    UniProtKB/Swiss-Prot
    D3DPB8, Q53SS2, Q9Y5Z6
    Conserved Domains (1) summary
    pfam01762
    Location:92 → 279
    Galactosyl_T; Galactosyltransferase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    167750886..168331887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344334.1 → XP_054200309.1  beta-1,3-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    D3DPB8, Q53SS2, Q9Y5Z6

  2. XM_054344332.1 → XP_054200307.1  beta-1,3-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    D3DPB8, Q53SS2, Q9Y5Z6

  3. XM_054344335.1 → XP_054200310.1  beta-1,3-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    D3DPB8, Q53SS2, Q9Y5Z6

  4. XM_054344333.1 → XP_054200308.1  beta-1,3-galactosyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    D3DPB8, Q53SS2, Q9Y5Z6
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y5Z6.1 GenPept UniProtKB/Swiss-Prot:Q9Y5Z6

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