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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 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]
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.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chondroitin sulfate/dermatan sulfate metabolism | ||
2 | Glycosaminoglycan metabolism | ||
3 | heparan sulfate biosynthesis | ||
4 | Metabolism |
.40
|
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5 | Sweet Taste Signaling |
Sperm Motility
.37
|
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 | -- |
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: |
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 |
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 |
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 |
|