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Aliases for B4GALT7 Gene

Aliases for B4GALT7 Gene

  • Beta-1,4-Galactosyltransferase 7 2 3 5
  • UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 7 3 4
  • Xylosylprotein Beta 1,4-Galactosyltransferase, Polypeptide 7 2 3
  • UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 7 3 4
  • Galactosyltransferase I 2 3
  • Beta-1,4-GalTase 7 3 4
  • Beta4Gal-T7 3 4
  • XGALT1 3 4
  • Proteoglycan UDP-Galactose:Beta-Xylose Beta1,4-Galactosyltransferase I 3
  • Beta-1,4-Galactosyltransferase VII 3
  • Beta4GalT-VII 3
  • EC 2.4.1.- 4
  • B4Gal-T7 4
  • EDSSLA 3
  • EDSP1 3
  • XGPT1 3

External Ids for B4GALT7 Gene

Previous GeneCards Identifiers for B4GALT7 Gene

  • GC05P177400
  • GC05P177868
  • GC05P177095
  • GC05P177140
  • GC05P176959
  • GC05P171950
  • GC05P177027

Summaries for B4GALT7 Gene

Entrez Gene Summary for B4GALT7 Gene

  • 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]

GeneCards Summary for B4GALT7 Gene

B4GALT7 (Beta-1,4-Galactosyltransferase 7) is a Protein Coding gene. Diseases associated with B4GALT7 include Ehlers-Danlos Syndrome, Progeroid Type, 1 and Spondylodysplastic Ehlers-Danlos Syndrome. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Sweet Taste Signaling. GO annotations related to this gene include transferase activity, transferring glycosyl groups and galactosyltransferase activity. An important paralog of this gene is B4GALT1.

UniProtKB/Swiss-Prot for B4GALT7 Gene

  • Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.

Gene Wiki entry for B4GALT7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B4GALT7 Gene

Genomics for B4GALT7 Gene

Regulatory Elements for B4GALT7 Gene

Enhancers for B4GALT7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G177599 1.1 ENCODE 29.1 +0.1 131 2.2 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 B4GALT7 DDX41 TMED9 ENSG00000247679
GH05G177614 0.6 FANTOM5 32 +15.1 15064 0.3 CTCF PRDM1 ZKSCAN1 B4GALT7 NSD1 ENSG00000247679 PIR49975
GH05G177606 0.9 ENCODE 21 +7.4 7362 1.9 RB1 ARID4B SIN3A KLF17 ZNF2 ZNF48 RAD21 SCRT2 ZNF143 MIXL1 B4GALT7 FAM153C LOC202181 FAM153A TMED9 ENSG00000247679
GH05G177425 1.8 FANTOM5 ENCODE dbSUPER 10.3 -170.7 -170729 8.6 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 GRK6 DOK3 FAF2 UIMC1 PFN3 DBN1 SLC34A1 LOC202181 MXD3 B4GALT7
GH05G177453 1.7 Ensembl ENCODE dbSUPER 10.3 -143.2 -143236 6.9 HDGF PKNOX1 MLX ARNT CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF346 ZNF346-IT1 SLC34A1 F12 GRK6 PFN3 MXD3 LOC202181 B4GALT7 PRR7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around B4GALT7 on UCSC Golden Path with GeneCards custom track

Promoters for B4GALT7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000191366 0 1401 HDGF ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF207

Genomic Location for B4GALT7 Gene

177,600,100 bp from pter
177,610,347 bp from pter
10,248 bases
Plus strand

Genomic View for B4GALT7 Gene

Genes around B4GALT7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B4GALT7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B4GALT7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B4GALT7 Gene

Proteins for B4GALT7 Gene

  • Protein details for B4GALT7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-1,4-galactosyltransferase 7
    Protein Accession:
    Secondary Accessions:
    • B3KN39
    • Q9UHN2

    Protein attributes for B4GALT7 Gene

    327 amino acids
    Molecular mass:
    37406 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for B4GALT7 Gene

neXtProt entry for B4GALT7 Gene

Post-translational modifications for B4GALT7 Gene

Other Protein References for B4GALT7 Gene

No data available for DME Specific Peptides for B4GALT7 Gene

Domains & Families for B4GALT7 Gene

Gene Families for B4GALT7 Gene

Suggested Antigen Peptide Sequences for B4GALT7 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 7 family.
  • Belongs to the glycosyltransferase 7 family.
genes like me logo Genes that share domains with B4GALT7: view

Function for B4GALT7 Gene

Molecular function for B4GALT7 Gene

GENATLAS Biochemistry:
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + O-beta-D-xylosyl-[protein] = UDP + 4-beta-D-galactosyl-O-beta-D-xylosyl-[protein].
UniProtKB/Swiss-Prot Function:
Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.

Enzyme Numbers (IUBMB) for B4GALT7 Gene

Gene Ontology (GO) - Molecular Function for B4GALT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IDA 24052259
GO:0005515 protein binding IPI 25416956
GO:0008378 galactosyltransferase activity IMP 16583246
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with B4GALT7: view
genes like me logo Genes that share phenotypes with B4GALT7: view

Human Phenotype Ontology for B4GALT7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for B4GALT7 Gene

Localization for B4GALT7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B4GALT7 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Cis cisternae of Golgi stack.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for B4GALT7 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for B4GALT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IDA,IEA 10506123
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA,IEA 10438455
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with B4GALT7: view

Pathways & Interactions for B4GALT7 Gene

genes like me logo Genes that share pathways with B4GALT7: view

UniProtKB/Swiss-Prot Q9UBV7-B4GT7_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B4GALT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006024 glycosaminoglycan biosynthetic process IDA 10438455
GO:0006029 proteoglycan metabolic process IMP 16583246
GO:0006464 cellular protein modification process TAS 10473568
GO:0006486 protein glycosylation IEA --
genes like me logo Genes that share ontologies with B4GALT7: view

No data available for SIGNOR curated interactions for B4GALT7 Gene

Drugs & Compounds for B4GALT7 Gene

(3) Drugs for B4GALT7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 34
Uridine diphosphategalactose Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0

(2) Additional Compounds for B4GALT7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with B4GALT7: view

Transcripts for B4GALT7 Gene

Unigene Clusters for B4GALT7 Gene

Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT7 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d
SP1: - - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - -
SP6: -

Relevant External Links for B4GALT7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for B4GALT7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B4GALT7 Gene

Protein differential expression in normal tissues from HIPED for B4GALT7 Gene

This gene is overexpressed in Cervix (36.9), Adrenal (15.5), and Lung (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for B4GALT7 Gene

NURSA nuclear receptor signaling pathways regulating expression of B4GALT7 Gene:


SOURCE GeneReport for Unigene cluster for B4GALT7 Gene:


mRNA Expression by UniProt/SwissProt for B4GALT7 Gene:

Tissue specificity: High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.

Evidence on tissue expression from TISSUES for B4GALT7 Gene

  • Skin(4.3)
  • Pancreas(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALT7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • pelvis
  • testicle
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood vessel
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with B4GALT7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for B4GALT7 Gene

Orthologs for B4GALT7 Gene

This gene was present in the common ancestor of animals.

Orthologs for B4GALT7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia B4GALT7 34 35
  • 99.29 (n)
(Bos Taurus)
Mammalia B4GALT7 35
  • 93 (a)
(Canis familiaris)
Mammalia B4GALT7 34 35
  • 90.86 (n)
(Mus musculus)
Mammalia B4galt7 34 16 35
  • 88.55 (n)
(Rattus norvegicus)
Mammalia B4galt7 34
  • 88.55 (n)
(Monodelphis domestica)
Mammalia B4GALT7 35
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia B4GALT7 35
  • 78 (a)
(Gallus gallus)
Aves B4GAL-T7 35
  • 86 (a)
B4GALT7 34
  • 77.67 (n)
(Anolis carolinensis)
Reptilia B4GALT7 35
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galt7 34
  • 65.73 (n)
(Danio rerio)
Actinopterygii b4galt7 34 35
  • 65.3 (n)
Dr.17702 34
fruit fly
(Drosophila melanogaster)
Insecta beta4GalT7 34 35
  • 60.28 (n)
bgr4GalT7 36
  • 52 (a)
(Caenorhabditis elegans)
Secernentea sqv-3 36 34 35
  • 50.07 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
Species where no ortholog for B4GALT7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for B4GALT7 Gene

Gene Tree for B4GALT7 (if available)
Gene Tree for B4GALT7 (if available)

Paralogs for B4GALT7 Gene

Paralogs for B4GALT7 Gene

genes like me logo Genes that share paralogs with B4GALT7: view

Variants for B4GALT7 Gene

Sequence variations from dbSNP and Humsavar for B4GALT7 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs121917817 Pathogenic, Ehlers-Danlos syndrome with short stature and limb anomalies (EDSSLA) [MIM:130070] 177,607,445(+) CGTGG(A/C)CTCCC reference, missense
rs121917818 Pathogenic, Ehlers-Danlos syndrome with short stature and limb anomalies (EDSSLA) [MIM:130070] 177,607,505(+) GCTGC(C/T)CTCCA reference, missense
rs187063864 Pathogenic 177,607,309(+) TCAAC(C/T)GGGCA reference, missense, utr-variant-5-prime
rs28937869 Pathogenic 177,608,994(+) AGAAG(C/T)GCATC reference, missense
rs753594601 Pathogenic 177,608,540(+) TCAGT(A/G)CAATG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for B4GALT7 Gene

Variant ID Type Subtype PubMed ID
nsv5149 CNV insertion 18451855

Variation tolerance for B4GALT7 Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.42; 27.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B4GALT7 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALT7 Gene

Disorders for B4GALT7 Gene

MalaCards: The human disease database

(11) MalaCards diseases for B4GALT7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, progeroid type, 1
  • defective biosynthesis of proteodermatan sulfate
spondylodysplastic ehlers-danlos syndrome
  • dermatan sulfate proteoglycan
reunion island larsen syndrome
  • rls
ehlers-danlos syndrome
  • cutis hyperelastica
multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
  • larsen syndrome, autosomal recessive, formerly
- elite association - COSMIC cancer census association via MalaCards


  • Ehlers-Danlos syndrome with short stature and limb anomalies (EDSSLA) [MIM:130070]: A variant form of Ehlers-Danlos syndrome characterized by short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits, developmental anomalies of the forearm bones and elbow, and bowing of extremities. {ECO:0000269 PubMed:10506123}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for B4GALT7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with B4GALT7: view

No data available for Genatlas for B4GALT7 Gene

Publications for B4GALT7 Gene

  1. Crystal structures of beta-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate Binding. (PMID: 24052259) Tsutsui Y. … Qasba P.K. (J. Biol. Chem. 2013) 2 3 4 64
  2. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. (PMID: 15211654) Faiyaz-Ul-Haque M. … Teebi A.S. (Am. J. Med. Genet. A 2004) 2 3 22 64
  3. Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PMID: 10438455) Okajima T. … Furukawa K. (J. Biol. Chem. 1999) 2 3 4 64
  4. Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4- galactosyltransferase gene family. (PMID: 10473568) Almeida R. … Clausen H. (J. Biol. Chem. 1999) 2 3 4 64
  5. Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. (PMID: 10506123) Okajima T. … Urano T. (J. Biol. Chem. 1999) 3 4 22 64

Products for B4GALT7 Gene

Sources for B4GALT7 Gene

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