Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

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

Gene ID: 11285, updated on 19-Jul-2014
Official Symbol
B4GALT7provided by HGNC
Official Full Name
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7provided by HGNC
Primary source
HGNC:930
Locus tag
UNQ748/PRO1478
See related
Ensembl:ENSG00000027847; HPRD:05060; MIM:604327; Vega:OTTHUMG00000130851
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
EDSP1; XGPT1; XGALT1
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]
See B4GALT7 in Epigenomics, MapViewer
Location:
5q35.2-q35.3
Exon count :
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (177600118..177610347)
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 family with sequence similarity 193, member B Neighboring gene transmembrane emp24 protein transport domain containing 9 Neighboring gene SUMO-interacting motifs containing 1 pseudogene Neighboring gene family with sequence similarity 153, member A Neighboring gene uncharacterized LOC101928247

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • A tetrasaccharide linker sequence is required for GAG synthesis, organism-specific biosystem (from REACTOME)
    A tetrasaccharide linker sequence is required for GAG synthesis, organism-specific biosystemThe biosynthesis of dermatan sulfate/chondroitin sulfate and heparin/heparan sulfate glycosaminoglycans (GAGs) starts with the formation of a tetrasaccharide linker sequence to the core protein. The ...
  • Chondroitin sulfate/dermatan sulfate metabolism, organism-specific biosystem (from REACTOME)
    Chondroitin sulfate/dermatan sulfate metabolism, organism-specific biosystemChondroitin sulfate (CS) is a sulfated glycosaminoglycan (GAG). CS chains are unbranched polysaccharides of varying length containing two alternating monosaccharides: D-glucuronic acid (GlcA) and N-a...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Glycogen storage diseases, organism-specific biosystem (from REACTOME)
    Glycogen storage diseases, organism-specific biosystemThe regulated turnover of glycogen plays a central, tissue-specific role in the maintenance of blood glucose levels and in the provision of glucose to tissues such as muscle and brain in response to ...
  • Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, organism-specific biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, organism-specific biosystemGlycosaminoglycans (GAGs) are linear polysaccharide chains consisting of repeating disaccharide units and form proteglycans by covalently attaching to their core proteins. Chondroitin sulfate (CS) is...
  • Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, conserved biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate, conserved biosystemGlycosaminoglycans (GAGs) are linear polysaccharide chains consisting of repeating disaccharide units and form proteglycans by covalently attaching to their core proteins. Chondroitin sulfate (CS) is...
  • Glycosaminoglycan biosynthesis - heparan sulfate / heparin, organism-specific biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin, organism-specific biosystemHeparan sulfate (HS) and heparin (Hep) are glycosaminoglycans with repeating disaccharide units that consist of alternating residues of alpha-D-glucosamine (GlcN) and uronic acid, the latter being ei...
  • Glycosaminoglycan biosynthesis - heparan sulfate / heparin, conserved biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin, conserved biosystemHeparan sulfate (HS) and heparin (Hep) are glycosaminoglycans with repeating disaccharide units that consist of alternating residues of alpha-D-glucosamine (GlcN) and uronic acid, the latter being ei...
  • Glycosaminoglycan biosynthesis, linkage tetrasaccharide, organism-specific biosystem (from KEGG)
    Glycosaminoglycan biosynthesis, linkage tetrasaccharide, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
  • Glycosaminoglycan biosynthesis, linkage tetrasaccharide, conserved biosystem (from KEGG)
    Glycosaminoglycan biosynthesis, linkage tetrasaccharide, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystem (from REACTOME)
    Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystemThe acronym HS-GAG is used to describe both heparin and heparan sulfate. HS-GAG is a member of the glycosaminoglycan family and consists of a variably sulfated repeating disaccharide unit, the most ...
  • MPS I - Hurler syndrome, organism-specific biosystem (from REACTOME)
    MPS I - Hurler syndrome, organism-specific biosystemMucopolysaccharidosis type I (MPS I, Hurler syndrome, Hurler's disease, gargoylism, Scheie, Hirler-Scheie syndrome; MIM:607014, 607015 and 607016) is an autosomal recessive genetic disorder where th...
  • MPS II - Hunter syndrome, organism-specific biosystem (from REACTOME)
    MPS II - Hunter syndrome, organism-specific biosystemMucopolysaccharidosis II (MPS II, Hunter syndrome, MIM:309900) is an X-linked, recessive genetic disorder which therefore primarily affects males. MPS II was first described in 1917, by Major Charles...
  • MPS IIIA - Sanfilippo syndrome A, organism-specific biosystem (from REACTOME)
    MPS IIIA - Sanfilippo syndrome A, organism-specific biosystemMucopolysaccharidosis III (MPS III, Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis IIIA (M...
  • MPS IIIB - Sanfilippo syndrome B, organism-specific biosystem (from REACTOME)
    MPS IIIB - Sanfilippo syndrome B, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). MPS IIIB (Mucopolysaccharidosis type II...
  • MPS IIIC - Sanfilippo syndrome C, organism-specific biosystem (from REACTOME)
    MPS IIIC - Sanfilippo syndrome C, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). Mucopolysaccharidosis type IIIC (MPS II...
  • MPS IIID - Sanfilippo syndrome D, organism-specific biosystem (from REACTOME)
    MPS IIID - Sanfilippo syndrome D, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis type IIID (MPS I...
  • MPS IV - Morquio syndrome A, organism-specific biosystem (from REACTOME)
    MPS IV - Morquio syndrome A, organism-specific biosystemMucopolysaccharidosis IV A (MPS IVA, MPS4A, Morquio's syndrome, Morquio's; MIM:253000) is a rare, autosomal recessive mucopolysaccharide storage disease, first described simultaneously in 1929 by L M...
  • MPS IV - Morquio syndrome B, organism-specific biosystem (from REACTOME)
    MPS IV - Morquio syndrome B, organism-specific biosystemDefects in beta-galactosidase (GLB1; MIM:611458) can result in GM1 gangliosidosis (GM1; MIM:230500) (Nishimoto et al. 1991) (not described here), with several phenotypes indicating mental deteriorati...
  • MPS IX - Natowicz syndrome, organism-specific biosystem (from REACTOME)
    MPS IX - Natowicz syndrome, organism-specific biosystemMucopolysaccharidosis type IX (MPS IX, Natowicz syndrome, Hyaluronidase deficiency, MIM:601492) is a rare lysosomal storage disease characterized by high hyaluronan (HA) concentration in the serum re...
  • MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystem (from REACTOME)
    MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystemMucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, polydystrophic dwarfism; MIM:253200) is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (AR...
  • MPS VII - Sly syndrome, organism-specific biosystem (from REACTOME)
    MPS VII - Sly syndrome, organism-specific biosystemMucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-glucuronidase deficiency; MIM:253220) is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme beta-...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Mucopolysaccharidoses, organism-specific biosystem (from REACTOME)
    Mucopolysaccharidoses, organism-specific biosystemThe mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders caused by deficiencies of enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs, originall...
  • Myoclonic epilepsy of Lafora, organism-specific biosystem (from REACTOME)
    Myoclonic epilepsy of Lafora, organism-specific biosystemLafora disease is a progressive neurodegenerative disorder with onset typically late in childhood, characterized by seizures and progressive neurological deterioration and death within ten years of o...
  • chondroitin sulfate biosynthesis, organism-specific biosystem (from BIOCYC)
    chondroitin sulfate biosynthesis, organism-specific biosystem
    chondroitin sulfate biosynthesis
  • chondroitin sulfate biosynthesis, conserved biosystem (from BIOCYC)
    chondroitin sulfate biosynthesis, conserved biosystemGeneral Background |FRAME: Chondroitin-sulfates "Chondroitin sulfate"| is a sulfated |FRAME: Glycosaminoglycans glycosaminoglycan"| composed of alternating units of sulfated |FRAME:CPD-12557| and |F...
  • dermatan sulfate biosynthesis, organism-specific biosystem (from BIOCYC)
    dermatan sulfate biosynthesis, organism-specific biosystem
    dermatan sulfate biosynthesis
  • dermatan sulfate biosynthesis, conserved biosystem (from BIOCYC)
    dermatan sulfate biosynthesis, conserved biosystem|FRAME: Dermatan-Sulfate "Dermatan sulfate"| is a sulfated |FRAME: Glycosaminoglycans "glycosaminoglycan"| composed of alternating units of sulfated |FRAME: CPD-3604| and |FRAME: CPD-12515| (and some...
  • glycoaminoglycan-protein linkage region biosynthesis, organism-specific biosystem (from BIOCYC)
    glycoaminoglycan-protein linkage region biosynthesis, organism-specific biosystem: Glycosaminoglycans "Glycosaminoglycans" (also known as mucopolysaccharides) are long unbranched polysaccharides consisting of a repeating disaccharide unit that consists of an N-acetyl-hexosamine a...
  • glycoaminoglycan-protein linkage region biosynthesis, conserved biosystem (from BIOCYC)
    glycoaminoglycan-protein linkage region biosynthesis, conserved biosystem|FRAME: Glycosaminoglycans "Glycosaminoglycans"| (also known as mucopolysaccharides) are long unbranched polysaccharides consisting of a repeating disaccharide unit that consists of an N-acetyl-hexos...
  • heparan sulfate biosynthesis, organism-specific biosystem (from BIOCYC)
    heparan sulfate biosynthesis, organism-specific biosystem
    heparan sulfate biosynthesis
  • heparan sulfate biosynthesis, conserved biosystem (from BIOCYC)
    heparan sulfate biosynthesis, conserved biosystemBackground |FRAME: Heparan-Sulfate "Heparan sulfate"| is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to...

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
cellular protein modification process TAS
Traceable Author Statement
more info
PubMed 
chondroitin sulfate metabolic process TAS
Traceable Author Statement
more info
 
extracellular fibril organization IMP
Inferred from Mutant Phenotype
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
 
proteoglycan metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
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 
Preferred Names
beta-1,4-galactosyltransferase 7
Names
beta-1,4-galactosyltransferase 7
beta4Gal-T7
beta4GalT-VII
beta-1,4-GalTase 7
galactosyltransferase I
beta-1,4-galactosyltransferase VII
UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7
proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I
UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7
NP_009186.1

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 

    Range
    5001..15230
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_007255.2NP_009186.1  beta-1,4-galactosyltransferase 7

    See proteins identical to NP_009186.1

    Status: REVIEWED

    Source sequence(s)
    AF142675, BC007317, BC072403
    Consensus CDS
    CCDS4429.1
    UniProtKB/Swiss-Prot
    Q9UBV7
    Related
    ENSP00000029410, OTTHUMP00000161440, ENST00000029410, OTTHUMT00000253421
    Conserved Domains (1) summary
    cd00899
    Location:92315
    Blast Score: 870
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    177600118..177610347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714815.1XP_006714878.1  

    Conserved Domains (1) summary
    cd00899
    Location:146369
    Blast Score: 879
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
  2. XM_006714816.1XP_006714879.1  

    See proteins identical to XP_006714879.1

    UniProtKB/TrEMBL
    B3KMT1
    Conserved Domains (1) summary
    cl11394
    Location:1155
    Blast Score: 564
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  3. XM_005265805.1XP_005265862.1  

    Conserved Domains (1) summary
    cd00899
    Location:1201
    Blast Score: 737
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    171950894..171957065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    176459506..176469735
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...