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

Gene ID: 11285, updated on 11-Sep-2019

Summary

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
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

Genomic context

See B4GALT7 in Genome Data Viewer
Location:
5q35.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (177600102..177610330)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (177027119..177037348)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377750 Neighboring gene transmembrane p24 trafficking protein 9 Neighboring gene SUMO interacting motifs containing 1 pseudogene Neighboring gene uncharacterized LOC107986489 Neighboring gene family with sequence similarity 153 member A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
glycosaminoglycan biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
glycosaminoglycan metabolic process TAS
Traceable Author Statement
more info
 
negative regulation of fibroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein N-linked glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
proteoglycan metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
supramolecular fiber organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_007255.3NP_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
    Q9UBV7
    Related
    ENSP00000029410.5, ENST00000029410.10
    Conserved Domains (1) summary
    cd00899
    Location:92315
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    177600102..177610330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714816.4XP_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:1155
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  2. XM_017008999.2XP_016864488.1  beta-1,4-galactosyltransferase 7 isoform X1

    Conserved Domains (1) summary
    cd00899
    Location:1201
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
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