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    B4GALT7 beta-1,4-galactosyltransferase 7 [ Homo sapiens (human) ]

    Gene ID: 11285, updated on 3-Apr-2024

    Summary

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    Official Symbol
    B4GALT7provided by HGNC
    Official Full Name
    beta-1,4-galactosyltransferase 7provided by HGNC
    Primary source
    HGNC:HGNC:930
    See related
    Ensembl:ENSG00000027847 MIM:604327; AllianceGenome:HGNC:930
    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
    XGPT; EDSP1; XGPT1; EDSSLA; XGALT1; EDSSPD1
    Summary
    This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in testis (RPKM 4.7), prostate (RPKM 3.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See B4GALT7 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (177600132..177610330)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (178142412..178152606)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (177027133..177037331)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176981263-176981766 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4836 Neighboring gene FAM193B divergent transcript Neighboring gene CRISPRi-validated cis-regulatory element chr5.4837 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:177020409-177021608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:177033623-177034226 Neighboring gene transmembrane p24 trafficking protein 9 Neighboring gene SIMC1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16706 Neighboring gene uncharacterized LOC107986489 Neighboring gene family with sequence similarity 153 member A

    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. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. Mihalic Mosher T, et al. Eur J Hum Genet, 2019 Oct. PMID 31278392, Free PMC Article
    2. Further defining the phenotypic spectrum of B4GALT7 mutations. Salter CG, et al. Am J Med Genet A, 2016 Jun. PMID 26940150
    3. Probing the acceptor active site organization of the human recombinant β1,4-galactosyltransferase 7 and design of xyloside-based inhibitors. Saliba M, et al. J Biol Chem, 2015 Mar 20. PMID 25568325, Free PMC Article
    4. Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. Cartault F, et al. Eur J Hum Genet, 2015 Jan. PMID 24755949, Free PMC Article
    5. Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS). Bui C, et al. FEBS Lett, 2010 Sep 24. PMID 20691685

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Targeting B4GALT7 suppresses the proliferation, migration and invasion of hepatocellular carcinoma through the Cdc2/CyclinB1 and miR-338-3p/MMP2 pathway.
      Title: Targeting B4GALT7 suppresses the proliferation, migration and invasion of hepatocellular carcinoma through the Cdc2/CyclinB1 and miR-338-3p/MMP2 pathway.
    2. The findings in this family expand the clinical phenotype of B4GALT7-related linkeropathies to include perinatal lethal skeletal dysplasia
      Title: Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
    3. Define 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.
    4. The phenotypes described in this article caused by bi-allelic mutations in B4GALT7 would benefit from reclassification and loss of its current association with PEDS. These conditions would be better grouped with the other linkeropathies.
      Title: Further defining the phenotypic spectrum of B4GALT7 mutations.
    5. Our findings demonstrate that B4GALT7 is the causative gene for LRS. The identification of a unique homozygous mutation argues in favor of a founder effect. B4GALT7 encodes a galactosyltransferase.
      Title: Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
    6. identified two key structural features forming stacking interactions with the aglycone, and the hydrogen bond between the His(195) nitrogen backbone and the carbonyl group of the coumarinyl molecule to develop a tight binder of hbeta4GalT7
      Title: Probing the acceptor active site organization of the human recombinant β1,4-galactosyltransferase 7 and design of xyloside-based inhibitors.
    7. a Michaelis complex of a glycosyltransferase has been described, and it clearly suggests an SN2 type catalytic mechanism for the beta4GalT7 enzyme.
      Title: Crystal structures of β-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate binding.
    8. Two evolutionary conserved motifs, (163)DVD(165) and (221)FWGWGREDDE(230), are central in the organization of the enzyme active site.
      Title: Identification of key functional residues in the active site of human {beta}1,4-galactosyltransferase 7: a major enzyme in the glycosaminoglycan synthesis pathway.
    9. Mutated ennzyme affects glycosaminoglycan synthesis and is involved Ehlers-Danlos syndrome.
      Title: Biochemical and thermodynamic characterization of mutated β1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers-Danlos syndrome.
    10. This study establishes the molecular basis for beta4GalT7 defects associated with altered GAG synthesis in Ehlers-Danlos syndrome.
      Title: Molecular characterization of β1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS).
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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
    Ehlers-Danlos syndrome, spondylodysplastic type, 1
    MedGen: C4552003 OMIM: 130070 GeneReviews: Not available
    		Compare labs

    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

    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 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables galactosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables galactosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables manganese ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables xylosylprotein 4-beta-galactosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables xylosylprotein 4-beta-galactosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables xylosylprotein 4-beta-galactosyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycosaminoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycosaminoglycan metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein N-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein modification process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in proteoglycan biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteoglycan metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in supramolecular fiber organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    beta-1,4-galactosyltransferase 7
    Names
    UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7
    UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7
    UDP-galactose:beta-xylose beta-1,4-galactosyltransferase
    beta-1,4-GalTase 7
    beta-1,4-galactosyltransferase VII
    beta4Gal-T7
    beta4GalT-VII
    galactosyltransferase I
    proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I
    xylosylprotein 4-beta-galactosyltransferase
    xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
    xylosylprotein beta-1,4-galactosyltransferase
    NP_009186.1
    XP_006714879.1
    XP_016864488.1
    XP_047272636.1
    XP_047272637.1
    XP_047272638.1
    XP_054207507.1
    XP_054207508.1
    XP_054207509.1
    XP_054207510.1

    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_015977.1 RefSeqGene

      Range
      5015..15213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007255.3 → NP_009186.1  beta-1,4-galactosyltransferase 7

      See identical proteins and their annotated locations for NP_009186.1

      Status: REVIEWED

      Source sequence(s)
      AF142675, BC072403
      Consensus CDS
      CCDS4429.1
      UniProtKB/Swiss-Prot
      B3KN39, Q9UBV7, Q9UHN2
      Related
      ENSP00000029410.5, ENST00000029410.10
      Conserved Domains (1) summary
      cd00899
      Location:92 → 315
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      177600132..177610330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416681.1 → XP_047272637.1  beta-1,4-galactosyltransferase 7 isoform X1

    2. XM_047416682.1 → XP_047272638.1  beta-1,4-galactosyltransferase 7 isoform X1

    3. XM_047416680.1 → XP_047272636.1  beta-1,4-galactosyltransferase 7 isoform X1

    4. XM_017008999.3 → XP_016864488.1  beta-1,4-galactosyltransferase 7 isoform X1

      UniProtKB/TrEMBL
      B3KTP5
      Conserved Domains (1) summary
      cd00899
      Location:1 → 201
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

    5. XM_006714816.5 → XP_006714879.1  beta-1,4-galactosyltransferase 7 isoform X2

      See identical proteins and their annotated locations for XP_006714879.1

      UniProtKB/TrEMBL
      B3KMT1
      Conserved Domains (1) summary
      cl11394
      Location:1 → 155
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      178142412..178152606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351532.1 → XP_054207507.1  beta-1,4-galactosyltransferase 7 isoform X1

    2. XM_054351534.1 → XP_054207509.1  beta-1,4-galactosyltransferase 7 isoform X1

    3. XM_054351533.1 → XP_054207508.1  beta-1,4-galactosyltransferase 7 isoform X1

    4. XM_054351535.1 → XP_054207510.1  beta-1,4-galactosyltransferase 7 isoform X2

      UniProtKB/TrEMBL
      B3KMT1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBV7.1 GenPept UniProtKB/Swiss-Prot:Q9UBV7

    Gene LinkOut

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

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