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The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]
B3GAT3 (Beta-1,3-Glucuronyltransferase 3) is a Protein Coding gene. Diseases associated with B3GAT3 include Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects and Larsen-Like Syndrome B3gat3 Type. Among its related pathways are heparan sulfate biosynthesis and Chondroitin sulfate/dermatan sulfate metabolism. Gene Ontology (GO) annotations related to this gene include glucuronosyltransferase activity and galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity. An important paralog of this gene is B3GAT1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 24425863 |
GO:0015018 | galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity | IEA,NAS | 10842173 |
GO:0015020 | glucuronosyltransferase activity | IMP | 21763480 |
GO:0016740 | transferase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA,TAS | -- |
GO:0005794 | Golgi apparatus | IEA,IDA | 21763480 |
GO:0005801 | cis-Golgi network | IDA | 21763480 |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA,NAS | 10842173 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chondroitin sulfate/dermatan sulfate metabolism | ||
2 | Glycosaminoglycan metabolism | ||
3 | heparan sulfate biosynthesis | ||
4 | Metabolism |
.40
|
Symbol | External ID(s) | Details |
---|---|---|
B3GALT6 | ||
CKAP4 | ||
CSGALNACT2 | ||
DNAAF5 | ||
GAA |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IBA | 21873635 |
GO:0006024 | glycosaminoglycan biosynthetic process | NAS | 10842173 |
GO:0006486 | protein glycosylation | IEA | -- |
GO:0015012 | heparan sulfate proteoglycan biosynthetic process | IDA,IMP | 25893793 |
GO:0030203 | glycosaminoglycan metabolic process | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
heparan sulfate |
|
9050-30-0 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | B3GAT3P1 31 |
|
OneToOne | |
B3GAT3 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | B3GAT3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | B3GAT3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | B3gat3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | B3gat3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | B3GAT3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | B3GAT3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | B3GAT3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | b3gat3 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | b3gat3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | b3gat3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | GlcAT-I 30 31 |
|
ManyToMany | |
BcDNA:GH05057 32 |
|
|
|||
EG:EG0007.5 32 |
|
|
|||
CG3881 32 |
|
|
|||
GlcAT-S 31 |
|
ManyToMany | |||
GlcAT-P 31 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002801 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | sqv-8 30 31 32 |
|
ManyToMany | |
C54C8.5 32 |
|
|
|||
glct-1 31 |
|
ManyToMany | |||
E03H4.12 32 |
|
|
|||
glct-4 31 |
|
ManyToMany | |||
glct-3 31 |
|
ManyToMany | |||
glct-5 31 |
|
ManyToMany | |||
glct-6 31 |
|
ManyToMany | |||
glct-2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7425 31 |
|
ManyToMany | |
CSA.7080 31 |
|
ManyToMany | |||
CSA.7081 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
854700 | Uncertain Significance: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 62,616,711(-) |
C/T NM_012200.4(B3GAT3):c.704G>A (p.Arg235Gln) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
936655 | Uncertain Significance: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 62,615,716(-) |
TG/T NM_012200.4(B3GAT3):c.992del (p.Pro331fs) |
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
936692 | Uncertain Significance: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 62,620,659(-) |
T/C NM_012200.4(B3GAT3):c.95A>G (p.Asp32Gly) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
981501 | Pathogenic: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | 62,617,100(-) |
G/A NM_012200.4(B3GAT3):c.505C>T (p.Arg169Trp) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs1085307917 | Likely Pathogenic: not provided | 62,617,274(-) |
C/T NM_012200.4(B3GAT3):c.331G>A (p.Val111Met) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
Disorder | Aliases | PubMed IDs |
---|---|---|
multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects |
|
|
larsen-like syndrome b3gat3 type |
|
|
spondyloepiphyseal dysplasia with congenital joint dislocations |
|
|
desbuquois dysplasia |
|
|
larsen syndrome |
|
|