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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
    mouse all
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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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