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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 hav... See more...
Aliases for B4GALT7 Gene
Aliases for B4GALT7 Gene
- Beta-1,4-Galactosyltransferase 7 2 3 4 5
- Beta4Gal-T7 2 3 4
- UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 7 3 4
- Proteoglycan UDP-Galactose:Beta-Xylose Beta1,4-Galactosyltransferase I 3 4
- Xylosylprotein Beta 1,4-Galactosyltransferase, Polypeptide 7 2 3
- UDP-Galactose:Beta-Xylose Beta-1,4-Galactosyltransferase 3 4
- UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 7 3 4
- Xylosylprotein Beta-1,4-Galactosyltransferase 3 4
- Xylosylprotein 4-Beta-Galactosyltransferase 3 4
- Galactosyltransferase I 2 3
- Beta-1,4-GalTase 7 3 4
- XGALT1 3 4
External Ids for B4GALT7 Gene
- HGNC: 930
- Entrez Gene: 11285
- Ensembl: ENSG00000027847
- OMIM: 604327
- UniProtKB: Q9UBV7
Previous GeneCards Identifiers for B4GALT7 Gene
- GC05P177400
- GC05P177868
- GC05P177095
- GC05P177140
- GC05P176959
- GC05P171950
- GC05P177027
Summaries 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, Spondylodysplastic Type, 1 and Ehlers-Danlos Syndrome Progeroid Type. Among its related pathways are Sweet Taste Signaling and Chondroitin sulfate/dermatan sulfate metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and galactosyltransferase activity. An important paralog of this gene is B4GALT3.
UniProtKB/Swiss-Prot Summary for B4GALT7 Gene
-
Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.
Additional gene information for B4GALT7 Gene
- HGNC(930)
- Entrez Gene(11285)
- Ensembl(ENSG00000027847)
- OMIM(604327)
- UniProtKB(Q9UBV7)
- Open Targets Platform(ENSG00000027847)
- Monarch Initiative
- Search for B4GALT7 at DataMed
- Search for B4GALT7 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B4GALT7 Gene
Genomics for B4GALT7 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for B4GALT7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around B4GALT7 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B4GALT7
- Top Transcription factor binding sites by QIAGEN in the B4GALT7 gene promoter:
-
- AML1a
- ARP-1
- c-Myc
- CP2
- E47
- ER-alpha
- Max1
- NF-kappaB1
- Pax-4a
Genomic Locations for B4GALT7 Gene
Genomic Locations for B4GALT7 Gene
- chr5:177,600,102-177,610,330
- (GRCh38/hg38)
- Size:
- 10,229 bases
- Orientation:
- Plus strand
- chr5:177,027,101-177,037,348
- (GRCh37/hg19)
- 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:
-
- 5q35.3 by HGNC
- 5q35.3 by Entrez Gene
- 5q35.3 by Ensembl
B4GALT7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for B4GALT7 Gene
Post-translational modifications for B4GALT7 Gene
Other Protein References for B4GALT7 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ B4GALT7 Antibody
- Creative Diagnostics Anti-B4GALT7 monoclonal antibody, clone AB68323
- Creative Biolabs Recombinant Mouse Anti-Human B4GALT7 Antibody
- Novus Biologicals Antibodies for B4GALT7
-
Abcam antibodies for B4GALT7
- Invitrogen Antibodies for B4GALT7 (AFLGC-B4GALT7)
-
Boster Bio Antibodies for B4GALT7
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for B4GALT7
- Origene Custom Protein Services for B4GALT7
-
Abcam proteins for B4GALT7
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
Protein Domains for B4GALT7 Gene
- InterPro:
- Blocks:
-
- Metazoa galactosyltransferase
- ProtoNet:
Suggested Antigen Peptide Sequences for B4GALT7 Gene
- GenScript: Design optimal peptide antigens:
-
- UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7 (B4GT7_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UBV7- Family:
-
- Belongs to the glycosyltransferase 7 family.
Function for B4GALT7 Gene
Molecular function for B4GALT7 Gene
- UniProtKB/Swiss-Prot Function:
- Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=3-O-(beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-galactose = 3-O-(beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:15297, Rhea:RHEA-COMP:12567, Rhea:RHEA-COMP:12570, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:132085, ChEBI:CHEBI:132088; EC=2.4.1.133; Evidence={ECO:0000269|PubMed:24052259};.
- GENATLAS Biochemistry:
- UDP-galactose : O-beta-D-xylosylprotein 4-beta-D-galactosyltransferase,involved in the synthesis of the glycosaminoglycan-protein linkage region of proteoglycans,putatively involved in progeroid syndrome and connective tissue disorders with affected proteoglycan biosynthesis
Enzyme Numbers (IUBMB) for B4GALT7 Gene
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for B4GALT7 Gene
- GenomeRNAi human phenotypes for B4GALT7:
-
- Decreased hepcidin::fluc mRNA expression
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 25%
- Increased transferrin (TF) endocytosis
- Decreased viability after Maraba virus infection
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for B4GALT7 - Select products 50% OFF >
- * B4GALT7 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for B4GALT7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B4GALT7
-
Santa Cruz Biotechnology (SCBT) CRISPR for B4GALT7
miRNA for B4GALT7 Gene
- miRTarBase miRNAs that target B4GALT7
-
- hsa-miR-1301-3p (MIRT036015)
- hsa-miR-7160-5p (MIRT448197)
- hsa-miR-4722-5p (MIRT448198)
- hsa-miR-1827 (MIRT448199)
- hsa-miR-4635 (MIRT448200)
- hsa-miR-4649-3p (MIRT448201)
- hsa-miR-4768-3p (MIRT448202)
- hsa-miR-940 (MIRT448203)
- hsa-miR-6808-5p (MIRT448204)
- hsa-miR-6893-5p (MIRT448205)
- hsa-miR-4533 (MIRT462840)
- hsa-miR-3978 (MIRT462841)
- hsa-miR-3665 (MIRT462842)
- hsa-miR-657 (MIRT462843)
- hsa-miR-361-3p (MIRT462844)
- hsa-miR-1825 (MIRT462845)
- hsa-miR-152-3p (MIRT462846)
- hsa-miR-148b-3p (MIRT462847)
- hsa-miR-148a-3p (MIRT462848)
- hsa-miR-3914 (MIRT462849)
- hsa-miR-7977 (MIRT632180)
- hsa-miR-106a-3p (MIRT682055)
- hsa-miR-4684-3p (MIRT682056)
- hsa-miR-650 (MIRT682057)
- hsa-miR-3612 (MIRT682058)
- hsa-miR-2467-3p (MIRT682059)
- hsa-miR-4537 (MIRT682060)
- hsa-miR-1247-3p (MIRT682061)
- hsa-miR-4257 (MIRT682062)
- hsa-miR-6818-3p (MIRT686126)
- hsa-miR-3620-5p (MIRT686127)
- hsa-miR-1587 (MIRT686128)
- hsa-miR-4674 (MIRT686129)
- hsa-miR-4684-5p (MIRT686130)
- hsa-miR-3147 (MIRT686131)
- hsa-miR-593-3p (MIRT686132)
- hsa-miR-6895-3p (MIRT686133)
- hsa-miR-5699-3p (MIRT686134)
- hsa-miR-4421 (MIRT686135)
- hsa-miR-339-5p (MIRT686136)
- hsa-miR-4259 (MIRT686137)
- hsa-miR-382-5p (MIRT686138)
- hsa-miR-495-5p (MIRT686139)
- hsa-miR-548c-3p (MIRT686140)
- hsa-miR-1304-5p (MIRT697135)
- hsa-miR-6765-5p (MIRT697136)
- hsa-miR-298 (MIRT697137)
- hsa-miR-6086 (MIRT697138)
- hsa-miR-377-5p (MIRT697139)
- hsa-miR-6511a-5p (MIRT697140)
- hsa-miR-1910-3p (MIRT697141)
- hsa-miR-25-3p (MIRT764160)
- hsa-miR-32-5p (MIRT765574)
- hsa-miR-363-3p (MIRT766179)
- hsa-miR-367-3p (MIRT766618)
- hsa-miR-500a-3p (MIRT772966)
- hsa-miR-5186 (MIRT773481)
- hsa-miR-767-5p (MIRT781939)
- hsa-miR-92a-3p (MIRT782671)
- hsa-miR-92b-3p (MIRT782710)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B4GALT7
- Browse OriGene Inhibitory RNA Products For B4GALT7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT7
Clone Products
- Applied Biological Materials (abm): Clones for B4GALT7 - Select products 50% OFF >
- * B4GALT7 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for B4GALT7
- Addgene plasmids for B4GALT7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALT7
Cell Line Products
-
Horizon Cell Lines for B4GALT7
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.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| mitochondrion | 0 |
| 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 | IEA,IDA | 10438455 |
| GO:0032580 | Golgi cisterna membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for B4GALT7 Gene
Pathways & Interactions for B4GALT7 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chondroitin sulfate/dermatan sulfate metabolism | ||
| 2 | Glycosaminoglycan metabolism | ||
| 3 | heparan sulfate biosynthesis | ||
| 4 | Metabolism |
.40
|
|
| 5 | Sweet Taste Signaling |
Sperm Motility
.37
|
|
Pathways by source for B4GALT7 Gene
4 BioSystems pathways for B4GALT7 Gene
3 KEGG pathways for B4GALT7 Gene
1 Qiagen pathway for B4GALT7 Gene
- Sperm Motility
UniProtKB/Swiss-Prot Q9UBV7-B4GT7_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for B4GALT7 Gene
Selected Interacting proteins:
Q9UBV7-B4GT7_HUMAN
ENSP00000029410
for B4GALT7 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for B4GALT7
| 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 | -- |
No data available for SIGNOR curated interactions for B4GALT7 Gene
Transcripts for B4GALT7 Gene
mRNA/cDNA for B4GALT7 Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000029410 1698 nts (view in UCSC)
- ENST00000502420 1305 nts (view in UCSC)
- ENST00000505145 2653 nts (view in UCSC)
- ENST00000505433 1064 nts (view in UCSC)
- ENST00000505468 544 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for B4GALT7 - Select products 50% OFF >
- * B4GALT7 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for B4GALT7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B4GALT7
-
Santa Cruz Biotechnology (SCBT) CRISPR for B4GALT7
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B4GALT7
- Browse OriGene Inhibitory RNA Products For B4GALT7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT7
Clone Products
- Applied Biological Materials (abm): Clones for B4GALT7 - Select products 50% OFF >
- * B4GALT7 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for B4GALT7
- Addgene plasmids for B4GALT7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALT7
| 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
Expression 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, MaxQB, and MOPED for B4GALT7 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B4GALT7
SOURCE GeneReport for Unigene cluster for B4GALT7 Gene:
Hs.455109mRNA 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)
- Nervous system(2.4)
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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs for B4GALT7
-
OriGene qPCR primer pairs and template standards for B4GALT7
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | B4GALT7 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | B4GALT7 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | B4GALT7 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | B4galt7 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | B4galt7 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | B4GALT7 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | B4GALT7 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | B4GAL-T7 31 |
|
OneToOne | |
| B4GALT7 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | B4GALT7 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | b4galt7 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | b4galt7 30 31 |
|
OneToOne | |
| Dr.17702 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | beta4GalT7 30 31 |
|
OneToMany | |
| &bgr;4GalT7 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | sqv-3 30 31 32 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for B4GALT7 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for B4GALT7: view image
Paralogs for B4GALT7 Gene
Variants for B4GALT7 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B4GALT7 Gene
| SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 646681 | Uncertain Significance: Ehlers-Danlos syndrome progeroid type | 177,608,561(+) | T/C | MISSENSE_VARIANT | |
| 647607 | Uncertain Significance: Ehlers-Danlos syndrome progeroid type | 177,604,346(+) | GT/AC | MISSENSE_VARIANT | |
| 669667 | Benign: not provided | 177,606,974(+) | C/T | INTRON_VARIANT | |
| 672860 | Likely Benign: not provided | 177,599,798(+) | C/A | ||
| 678008 | Benign: Ehlers-Danlos syndrome progeroid type; not provided | 177,604,601(+) | C/G | INTRON_VARIANT |
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)
Additional Variant Information for B4GALT7 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALT7 Gene
Disorders for B4GALT7 Gene
(18) MalaCards diseases for B4GALT7 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ehlers-danlos syndrome, spondylodysplastic type, 1 |
|
|
| ehlers-danlos syndrome progeroid type |
|
|
| b4galt7-related spondylodysplastic ehlers-danlos syndrome |
|
|
| reunion island larsen-like syndrome |
|
|
| multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects |
|
Search B4GALT7 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
B4GT7_HUMAN- Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) [MIM:130070]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome. {ECO:0000269 PubMed:10506123}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for B4GALT7
No data available for Genatlas for B4GALT7 Gene
Publications for B4GALT7 Gene
- 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
- 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 23
- 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
- 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
- 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 23
ExternalLinks
Products for B4GALT7 Gene
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Sources for B4GALT7 Gene
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