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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 With Short Stature And Limb Anomalies and Spondylodysplastic Ehlers-Danlos Syndrome. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. 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

Additional gene information 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
GH05H177599 1.1 ENCODE 29.1 +0.1 131 2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF207 B4GALT7 PDLIM7 DDX41 TMED9 ENSG00000247679
GH05H177606 0.9 ENCODE 21 +7.4 7362 1 RB1 ARID4B SIN3A KLF17 ZNF2 RAD21 SCRT2 ZNF143 MIXL1 THAP11 B4GALT7 FAM153C LOC202181 FAM153A TMED9 ENSG00000247679
GH05H177425 1.8 FANTOM5 ENCODE dbSUPER 10.3 -170.7 -170729 8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 CBX5 NSD1 GRK6 FAF2 UIMC1 DOK3 ENSG00000247679 LOC202181 ZNF346-IT1 PFN3 FAM193B
GH05H177453 1.7 Ensembl ENCODE dbSUPER 10.3 -143.2 -143236 6 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF346 NSD1 ZNF346-IT1 LOC202181 UIMC1 ENSG00000247679 SLC34A1 F12 GRK6 PFN3
GH05H177515 1.4 ENCODE dbSUPER 10.4 -83.4 -83377 2 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 LOC202181 B4GALT7 HNRNPAB NSD1 DOK3 FAM153A DDX41
- 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 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF207 ZNF143

Genomic Location for B4GALT7 Gene

Chromosome:
5
Start:
177,600,100 bp from pter
End:
177,610,347 bp from pter
Size:
10,248 bases
Orientation:
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:
    Q9UBV7-B4GT7_HUMAN
    Recommended name:
    Beta-1,4-galactosyltransferase 7
    Protein Accession:
    Q9UBV7
    Secondary Accessions:
    • B3KN39
    • Q9UHN2

    Protein attributes for B4GALT7 Gene

    Size:
    327 amino acids
    Molecular mass:
    37406 Da
    Cofactor:
    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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for B4GALT7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBV7

UniProtKB/Swiss-Prot:

B4GT7_HUMAN :
  • Belongs to the glycosyltransferase 7 family.
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:
UDP-galactose
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

Phenotypes From GWAS Catalog 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

  • Applied Biological Materials Clones for B4GALT7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
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 IEA,IDA 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B4GALT7 Gene

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

(4) Drugs for B4GALT7 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 35
Uridine diphosphategalactose Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0

(1) 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

  • Applied Biological Materials Clones for B4GALT7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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: -
SP7:

Relevant External Links for B4GALT7 Gene

GeneLoc Exon Structure for
B4GALT7
ECgene alternative splicing isoforms for
B4GALT7

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:

B4GALT7

SOURCE GeneReport for Unigene cluster for B4GALT7 Gene:

Hs.455109

mRNA Expression by UniProt/SwissProt for B4GALT7 Gene:

Q9UBV7-B4GT7_HUMAN
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
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
  • testicle
Limb:
  • 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
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia B4GALT7 33 34
  • 99.29 (n)
cow
(Bos Taurus)
Mammalia B4GALT7 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B4GALT7 33 34
  • 90.86 (n)
mouse
(Mus musculus)
Mammalia B4galt7 33 16 34
  • 88.55 (n)
rat
(Rattus norvegicus)
Mammalia B4galt7 33
  • 88.55 (n)
oppossum
(Monodelphis domestica)
Mammalia B4GALT7 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B4GALT7 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves B4GAL-T7 34
  • 86 (a)
OneToOne
B4GALT7 33
  • 77.67 (n)
lizard
(Anolis carolinensis)
Reptilia B4GALT7 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galt7 33
  • 65.73 (n)
zebrafish
(Danio rerio)
Actinopterygii b4galt7 33 34
  • 65.3 (n)
Dr.17702 33
fruit fly
(Drosophila melanogaster)
Insecta beta4GalT7 33 34
  • 60.28 (n)
bgr4GalT7 35
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea sqv-3 35 33 34
  • 50.07 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToOne
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

ENSEMBL:
Gene Tree for B4GALT7 (if available)
TreeFam:
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)
B4GALT7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
B4GALT7

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

Disorders for B4GALT7 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ehlers-danlos syndrome with short stature and limb anomalies
  • defective biosynthesis of proteodermatan sulfate
spondylodysplastic ehlers-danlos syndrome
  • defective biosynthesis of proteodermatan sulfate
reunion island larsen syndrome
  • rls
ehlers-danlos syndrome, progeroid type, 2
  • ehlers-danlos syndrome progeroid type
ehlers-danlos syndrome
  • cutis hyperelastica
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

B4GT7_HUMAN
  • 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:
B4GALT7
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 β-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate binding. (PMID: 24052259) Tsutsui Y … Qasba PK (The Journal of biological chemistry 2013) 2 3 4 60
  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 AS (American journal of medical genetics. Part A 2004) 2 3 22 60
  3. 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 (The Journal of biological chemistry 1999) 3 4 22 60
  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 (The Journal of biological chemistry 1999) 2 3 4 60
  5. 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 (The Journal of biological chemistry 1999) 2 3 4 60

Products for B4GALT7 Gene

Sources for B4GALT7 Gene

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