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This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]
GANAB (Glucosidase II Alpha Subunit) is a Protein Coding gene. Diseases associated with GANAB include Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease and Autosomal Dominant Polycystic Kidney Disease. Among its related pathways are Calnexin/calreticulin cycle and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds. An important paralog of this gene is GANC.
Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004553 | hydrolase activity, hydrolyzing O-glycosyl compounds | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 10929008 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0016020 | membrane | HDA | 19946888 |
GO:0017177 | glucosidase II complex | IBA,IDA | 10929008 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Calnexin/calreticulin cycle | ||
2 | Metabolism of proteins | ||
3 | Metabolism | ||
4 | N-Glycan biosynthesis | ||
5 | Protein processing in endoplasmic reticulum |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006457 | protein folding | TAS | -- |
GO:0006491 | N-glycan processing | IDA | 10929008 |
GO:0008152 | metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Miglitol | Approved | Pharma | Target, antagonist | 13 | ||
D-glucose | Approved, Experimental, Investigational, Vet_approved | Pharma | 0 | |||
Water | Approved | Pharma | 0 | |||
Acarbose | Approved, Investigational | Pharma | Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) | 102 | ||
Castanospermine | Experimental | Pharma | Glucosidases alpha and beta inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Miglustat hydrochloride |
|
210110-90-0 |
|
|
Compound | Action | Cas Number |
---|---|---|
1-Deoxymannojirimycin hydrochloride | alpha-Mannosidase I inhibitor | 73465-43-7 |
1-Deoxynojirimycin | Glucosidase I and II inhibitor | 19130-96-2 |
Acarbose | Glucosidase alpha inhibitor (intestinal) | 56180-94-0 |
Castanospermine | Glucosidases alpha and beta inhibitor | 79831-76-8 |
Miglustat hydrochloride | alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases | 210110-90-0 |
Compound | Action | Cas Number |
---|---|---|
N-Nonyldeoxynojirimycin | 81117-35-3 | |
Sinensetin | α-glucosidase inhibitor, selective | 2306-27-6 |
Voglibose | α-glucosidases inhibitor | 83480-29-9 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP17: | - |
ExUns: | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ | 24 | ^ | 25a | · | 25b | · | 25c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||||||||||||
SP14: | |||||||||||||||||||||||||||||||||||||
SP15: | |||||||||||||||||||||||||||||||||||||
SP16: | |||||||||||||||||||||||||||||||||||||
SP17: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GANAB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GANAB 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GANAB 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ganab 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ganab 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | GANAB 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ganab 30 |
|
||
Str.3740 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100334924 30 |
|
||
GANAB (1 of 3) 31 |
|
OneToMany | |||
GANAB (3 of 3) 31 |
|
OneToMany | |||
GANAB (2 of 3) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG14476 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000862 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | aagr-3 30 31 |
|
ManyToMany | |
aagr-4 31 |
|
ManyToMany | |||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAR173C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ROT2 30 31 33 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F09735g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | RSW3 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.3471 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0216600 30 |
|
||
Os.6168 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.10182 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU04203 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | gls2 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3796 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
972833 | Uncertain Significance: not provided | 62,631,038(-) |
C/G NM_198334.3(GANAB):c.1142G>C (p.Ser381Thr) |
MISSENSE | |
972836 | Uncertain Significance: not provided | 62,628,856(-) |
C/T NM_198334.3(GANAB):c.2093G>A (p.Arg698Gln) |
MISSENSE | |
972860 | Uncertain Significance: not provided | 62,632,711(-) |
C/T NM_198334.3(GANAB):c.850G>A (p.Val284Met) |
MISSENSE | |
977520 | Uncertain Significance: Polycystic kidney disease 3 | 62,630,459(-) |
C/T NM_198334.3(GANAB):c.1433G>A (p.Arg478Gln) |
MISSENSE | |
rs1063445 | Conflicting Interpretations: Chronic kidney disease; not provided. - | 62,632,636(-) |
G/Ap.Arg309Cys NM_198334.3(GANAB):c.925C>T (p.Arg309Cys) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
polycystic kidney disease 3 with or without polycystic liver disease |
|
|
autosomal dominant polycystic kidney disease |
|
|
polycystic liver disease |
|
|
polycystic kidney disease 1 with or without polycystic liver disease |
|
|
liver disease |
|
|