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Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010]
CTBS (Chitobiase) is a Protein Coding gene. Diseases associated with CTBS include Phonagnosia and Focal Hand Dystonia. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and chitinase activity. An important paralog of this gene is CHIA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004553 | hydrolase activity, hydrolyzing O-glycosyl compounds | IEA | -- |
GO:0004568 | chitinase activity | IBA | 21873635 |
GO:0008061 | chitin binding | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0016798 | hydrolase activity, acting on glycosyl bonds | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 16502470 |
GO:0005764 | lysosome | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006032 | chitin catabolic process | IEA,IBA | 21873635 |
GO:0008152 | metabolic process | IEA | -- |
GO:0009313 | oligosaccharide catabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Glucosamine | Approved, Investigational | Pharma | 88 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
D-Glucosaminide |
|
78341-33-0 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: | - | - | |||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CTBS 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ctbs 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CTBS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CTBS 30 |
|
||
CTB 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | Ctbs 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | CTBS 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CTBS 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CTBS 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ctbs 30 |
|
||
Str.703 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC64330 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ctbs 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
718265 | Benign: not provided | 84,555,086(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
723110 | Benign: not provided | 84,555,112(-) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
728719 | Benign: not provided | 84,574,314(-) | C/T | SYNONYMOUS_VARIANT | |
rs15911 | - | p.Val274Ile | |||
rs3768249 | - | p.Asp310Tyr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1000325 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
phonagnosia |
|
|
focal hand dystonia |
|
|
basal ganglia cerebrovascular disease |
|
|
myasthenic syndrome, congenital, 20, presynaptic |
|
|
mannosidosis, beta a, lysosomal |
|
|