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    B3GALT5 beta-1,3-galactosyltransferase 5 [ Homo sapiens (human) ]

    Gene ID: 10317, updated on 27-Nov-2024

    Summary

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    Official Symbol
    B3GALT5provided by HGNC
    Official Full Name
    beta-1,3-galactosyltransferase 5provided by HGNC
    Primary source
    HGNC:HGNC:920
    See related
    Ensembl:ENSG00000183778 MIM:604066; AllianceGenome:HGNC:920
    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
    B3T5; GLCT5; B3GalTx; B3GalT-V; beta3Gal-T5; beta-3-Gx-T5; beta-1,3-GalTase 5
    Summary
    This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alternate promoters have been observed for this gene. [provided by RefSeq, Sep 2017]
    Expression
    Biased expression in small intestine (RPKM 5.1), colon (RPKM 4.2) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See B3GALT5 in Genome Data Viewer
    Location:
    21q22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (39612940..39673137)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (37997410..38057589)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (40984867..41045064)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:40899605-40900600 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:40907492-40908386 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:40909281-40910174 Neighboring gene JCAD pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr21:40923594-40924095 Neighboring gene NANOG hESC enhancer GRCh37_chr21:40931347-40931936 Neighboring gene B3GALT5 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:41005119-41006318 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:41012219-41012718 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:41011717-41012218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:41015167-41015667 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:41020756-41021302 Neighboring gene B3GALT5 ERV-L LTR promoter Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:41044997-41045632 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:41079003-41079814 Neighboring gene uncharacterized LOC107985499 Neighboring gene immunoglobulin superfamily member 5 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:41150548-41151747 Neighboring gene uncharacterized LOC107985500

    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
    • 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. Cloning, expression, and characterization of a novel UDP-galactose:beta-N-acetylglucosamine beta1,3-galactosyltransferase (beta3Gal-T5) responsible for synthesis of type 1 chain in colorectal and pancreatic epithelia and tumor cells derived therefrom. Isshiki S, et al. J Biol Chem, 1999 Apr 30. PMID 10212226
    2. Enhanced expression of beta 3-galactosyltransferase 5 activity is sufficient to induce in vivo synthesis of extended type 1 chains on lactosylceramides of selected human colonic carcinoma cell lines. Lin CH, et al. Glycobiology, 2009 Apr. PMID 19136585
    3. Fold-recognition and comparative modeling of human beta3GalT I, II, IV, V and VI and beta3GalNAcT I: prediction of residues conferring acceptor substrate specificity. Patel RY, et al. J Mol Graph Model, 2007 Jul. PMID 17212986
    4. DNA methylation and histone modifications modulate the β1,3 galactosyltransferase β3Gal-T5 native promoter in cancer cells. Caretti A, et al. Int J Biochem Cell Biol, 2012 Jan. PMID 22001559
    5. Decreased salivary sulphotransferase activity correlated with inflammation and autoimmunity parameters in Sjogren's syndrome patients. Castro I, et al. Rheumatology (Oxford), 2012 Mar. PMID 22101162

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Highly expressed B3GALT5-AS1 contributes to gastric cancer progression by recruiting WDR5 to mediate B3GALT5 and regulating beta-catenin/ZEB1 axis.
      Title: Highly expressed B3GALT5-AS1 contributes to gastric cancer progression by recruiting WDR5 to mediate B3GALT5 and regulating β-catenin/ZEB1 axis.
    2. High expression of B3GALT5 suppresses the galectin-4-mediated peritoneal dissemination of poorly differentiated gastric cancer cells.
      Title: High expression of B3GALT5 suppresses the galectin-4-mediated peritoneal dissemination of poorly differentiated gastric cancer cells.
    3. B3galt5 deficiency attenuates hepatocellular carcinoma by suppressing mTOR/p70s6k-mediated glycolysis.
      Title: B3galt5 deficiency attenuates hepatocellular carcinoma by suppressing mTOR/p70s6k-mediated glycolysis.
    4. High B3GALT5 expression confers poor clinical outcome and contributes to tumor progression and metastasis in breast cancer.
      Title: High B3GALT5 expression confers poor clinical outcome and contributes to tumor progression and metastasis in breast cancer.
    5. Serum level of long noncoding RNA B3GALT5-AS1 as a diagnostic biomarker of colorectal cancer.
      Title: Serum level of long noncoding RNA B3GALT5-AS1 as a diagnostic biomarker of colorectal cancer.
    6. SSEA3 and Sialyl Lewis a Glycan Expression Is Controlled by B3GALT5 LTR through Lamin A-NFYA and SIRT1-STAT3 Signaling in Human ES Cells.
      Title: SSEA3 and Sialyl Lewis a Glycan Expression Is Controlled by B3GALT5 LTR through Lamin A-NFYA and SIRT1-STAT3 Signaling in Human ES Cells.
    7. B3GALT5 knockout alters gycosphingolipid profile and facilitates transition to human naive pluripotency.
      Title: B3GALT5 knockout alters gycosphingolipid profile and facilitates transition to human naïve pluripotency.
    8. In patients with hepatocellular carcinoma, Kaplan Meier survival analysis showed significantly shorter relapse-free survival for those with high expression of B3GALT5 and shorter overall survival.
      Title: High expression FUT1 and B3GALT5 is an independent predictor of postoperative recurrence and survival in hepatocellular carcinoma.
    9. Here we show that the expression of beta3GalT5 significantly correlates with tumor progression and poor survival in patients, and the globo-series GSLs in breast cancer cells form a complex in membrane lipid raft with caveolin-1 (CAV1) and focal adhesion kinase (FAK) which then interact with AKT and receptor-interacting protein kinase (RIP), respectively
      Title: Signaling pathway of globo-series glycosphingolipids and β1,3-galactosyltransferase V (β3GalT5) in breast cancer.
    10. CA19.9 appears as a physiological product whose synthesis strongly depends on the tissue specific and epigenetically-regulated expression of B3GALT5 and ST3GAL3.
      Title: Unexpected distribution of CA19.9 and other type 1 chain Lewis antigens in normal and cancer tissues of colon and pancreas: Importance of the detection method and role of glycosyltransferase regulation.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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
    Genome-wide association study of suicide attempts in mood disorder patients.
    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)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    involved_in protein glycosylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus HDA 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 endoplasmic reticulum HDA PubMed 

    General protein information

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    Preferred Names
    beta-1,3-galactosyltransferase 5
    Names
    UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5
    UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5
    homolog of C. elegans Bt toxin resistance gene bre-5
    NP_001265579.1
    NP_001343265.1
    NP_001343267.1
    NP_001343268.1
    NP_006048.1
    NP_149360.1
    NP_149361.1
    NP_149362.2

    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.

    mRNA and Protein(s)

    1. NM_001278650.2 → NP_001265579.1  beta-1,3-galactosyltransferase 5 isoform a

      See identical proteins and their annotated locations for NP_001265579.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents use of the alternate A promoter and contains an alternate 5' UTR compared to variant 1.
      Source sequence(s)
      AB020337, AF064860, AK292951, AW136254, KF457302
      Consensus CDS
      CCDS13667.1
      UniProtKB/Swiss-Prot
      A8KA86, D3DSI3, Q2M3L5, Q53Z19, Q9NY96, Q9P1X6, Q9P1X7, Q9Y2C3
      Related
      ENSP00000480285.1, ENST00000615480.5
      Conserved Domains (1) summary
      cl21608
      Location:71 → 261
      Galactosyl_T; Galactosyltransferase

    2. NM_001356336.2 → NP_001343265.1  beta-1,3-galactosyltransferase 5 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) represents use of the alternate A promoter and contains an alternate 5' UTR compared to variant 1.
      Source sequence(s)
      AB020337, AF064860, AK292951, AW136254, DQ645732, KF457302
      Consensus CDS
      CCDS13667.1
      UniProtKB/Swiss-Prot
      A8KA86, D3DSI3, Q2M3L5, Q53Z19, Q9NY96, Q9P1X6, Q9P1X7, Q9Y2C3
      Related
      ENSP00000506797.1, ENST00000684187.2
      Conserved Domains (1) summary
      cl21608
      Location:71 → 261
      Galactosyl_T; Galactosyltransferase

    3. NM_001356338.2 → NP_001343267.1  beta-1,3-galactosyltransferase 5 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) represents use of the alternate C promoter and contains an alternate 5' UTR compared to variant 1.
      Source sequence(s)
      AB020337, AF064860, AW136254, DQ645737, KF457302
      Consensus CDS
      CCDS13667.1
      UniProtKB/Swiss-Prot
      A8KA86, D3DSI3, Q2M3L5, Q53Z19, Q9NY96, Q9P1X6, Q9P1X7, Q9Y2C3
      Related
      ENSP00000507453.1, ENST00000682542.1
      Conserved Domains (1) summary
      cl21608
      Location:71 → 261
      Galactosyl_T; Galactosyltransferase

    4. NM_001356339.2 → NP_001343268.1  beta-1,3-galactosyltransferase 5 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) represents use of the alternate C promoter and contains an alternate 5' UTR compared to variant 1.
      Source sequence(s)
      AB020337, AF064860, AW136254, DQ645738, KF457302
      Consensus CDS
      CCDS13667.1
      UniProtKB/Swiss-Prot
      A8KA86, D3DSI3, Q2M3L5, Q53Z19, Q9NY96, Q9P1X6, Q9P1X7, Q9Y2C3
      Related
      ENSP00000343318.4, ENST00000343118.6
      Conserved Domains (1) summary
      cl21608
      Location:71 → 261
      Galactosyl_T; Galactosyltransferase

    5. NM_006057.3 → NP_006048.1  beta-1,3-galactosyltransferase 5 isoform a

      See identical proteins and their annotated locations for NP_006048.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents use of a promoter derived from long terminal repeat (LTR) and encodes isoform a.
      Source sequence(s)
      AB020337, AF064860, AW136254, KF457302
      Consensus CDS
      CCDS13667.1
      UniProtKB/Swiss-Prot
      A8KA86, D3DSI3, Q2M3L5, Q53Z19, Q9NY96, Q9P1X6, Q9P1X7, Q9Y2C3
      Related
      ENSP00000369992.1, ENST00000380618.5
      Conserved Domains (1) summary
      cl21608
      Location:71 → 261
      Galactosyl_T; Galactosyltransferase

    6. NM_033170.3 → NP_149360.1  beta-1,3-galactosyltransferase 5 isoform a

      See identical proteins and their annotated locations for NP_149360.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of a promoter derived from long terminal repeat (LTR) and uses an alternate splice site in the 5' UTR, compared to variant 1.
      Source sequence(s)
      AB020337, AF064860, AW136254, KF457302
      Consensus CDS
      CCDS13667.1
      UniProtKB/Swiss-Prot
      A8KA86, D3DSI3, Q2M3L5, Q53Z19, Q9NY96, Q9P1X6, Q9P1X7, Q9Y2C3
      Conserved Domains (1) summary
      cl21608
      Location:71 → 261
      Galactosyl_T; Galactosyltransferase

    7. NM_033171.3 → NP_149361.1  beta-1,3-galactosyltransferase 5 isoform a

      See identical proteins and their annotated locations for NP_149361.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents use of a promoter derived from long terminal repeat (LTR) and contains an alternate exon in the 5' UTR, compared to variant 1.
      Source sequence(s)
      AB020337, AF064860, AW136254, KF457302
      Consensus CDS
      CCDS13667.1
      UniProtKB/Swiss-Prot
      A8KA86, D3DSI3, Q2M3L5, Q53Z19, Q9NY96, Q9P1X6, Q9P1X7, Q9Y2C3
      Conserved Domains (1) summary
      cl21608
      Location:71 → 261
      Galactosyl_T; Galactosyltransferase

    8. NM_033172.3 → NP_149362.2  beta-1,3-galactosyltransferase 5 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4)represents use of a promoter derived from long terminal repeat (LTR), but differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a longer N-terminus, compared to isoform a.
      Source sequence(s)
      AB020337, AF064860, AW136254, KF457302
      UniProtKB/TrEMBL
      A0A0A0MS93
      Conserved Domains (1) summary
      cl21608
      Location:75 → 265
      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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      39612940..39673137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      37997410..38057589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033173.1: Suppressed sequence

      Description
      NM_033173.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2C3.1 GenPept UniProtKB/Swiss-Prot:Q9Y2C3

    Gene LinkOut

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

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