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This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]
CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1) is a Protein Coding gene. Diseases associated with CSGALNACT1 include Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age and Breast Pericanalicular Fibroadenoma. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include glucuronosyltransferase activity and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is CSGALNACT2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008376 | acetylgalactosaminyltransferase activity | ISS | 11788602 |
GO:0008955 | peptidoglycan glycosyltransferase activity | IDA | 11514575 |
GO:0015020 | glucuronosyltransferase activity | IDA | 11514575 |
GO:0016740 | transferase activity | IEA | -- |
GO:0046872 | metal ion binding | NAS | 12163485 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030173 | integral component of Golgi membrane | NAS | 11514575 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chondroitin sulfate/dermatan sulfate metabolism | ||
2 | Glycosaminoglycan metabolism | ||
3 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001958 | endochondral ossification | IEA | -- |
GO:0015014 | heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process | NAS | 11514575 |
GO:0019276 | UDP-N-acetylgalactosamine metabolic process | IDA | 11514575 |
GO:0030166 | proteoglycan biosynthetic process | ISS | 11788602 |
GO:0030198 | extracellular matrix organization | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Uridine 5'-diphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Uridine diphosphate-N-acetylgalactosamine |
|
7277-98-7 |
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | · | 11d | · | 11e | · | 11f | · | 11g | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CSGALNACT1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CSGALNACT1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CSGALNACT1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CSGALNACT1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Csgalnact1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Csgalnact1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | CSGALNACT1 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CSGALNACT1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CSGALNACT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | csgalnact1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC793671 30 |
|
||
CSGALNACT1 (1 of 2) 31 |
|
OneToMany | |||
CSGALNACT1 (2 of 2) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG12913 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007720 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6775 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712012 | Likely Benign: not provided | 19,405,802(-) | TTC/T | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
770943 | Benign: not provided | 19,505,518(-) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
870477 | Pathogenic: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE | 19,418,732(-) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
870478 | Pathogenic: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE | 19,505,462(-) | GC/G | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
870480 | Pathogenic: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE | 19,408,628(-) | C/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
skeletal dysplasia, mild, with joint laxity and advanced bone age |
|
|
breast pericanalicular fibroadenoma |
|
|
temtamy preaxial brachydactyly syndrome |
|
|
coffin-siris syndrome 1 |
|
|
coffin-siris syndrome 2 |
|
|