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Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]
MAN1A2 (Mannosidase Alpha Class 1A Member 2) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include calcium ion binding and mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. An important paralog of this gene is MAN1A1.
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:0003824 | catalytic activity | IEA | -- |
GO:0004571 | mannosyl-oligosaccharide 1,2-alpha-mannosidase activity | IEA,IBA | 21873635 |
GO:0005509 | calcium ion 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:0000139 | Golgi membrane | TAS | -- |
GO:0005783 | endoplasmic reticulum | IBA | 21873635 |
GO:0005794 | Golgi apparatus | IEA,IDA | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | TAS,IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport to the Golgi and subsequent modification | ||
2 | N-Glycan biosynthesis | ||
3 | Vesicle-mediated transport | ||
4 | Metabolism of proteins | ||
5 | Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006486 | protein glycosylation | IEA | -- |
GO:0006491 | N-glycan processing | TAS,IBA | 21873635 |
GO:0007585 | respiratory gaseous exchange | IEA | -- |
GO:0008152 | metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Water | Approved | Pharma | 0 | |||
Acarbose | Approved, Investigational | Pharma | Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) | 102 | ||
Kifunensine | Experimental | Pharma | 0 | |||
Castanospermine | Experimental | Pharma | Glucosidases alpha and beta inhibitor | 0 | ||
1-Deoxynojirimycin | Investigational | Pharma | Glucosidase I and II inhibitor | 12 |
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 |
---|---|---|
1-Deoxymannojirimycin hydrochloride | 73465-43-7 | |
Kifunensine | 109944-15-2 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MAN1A2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MAN1A2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MAN1A2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MAN1A2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Man1a2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Man1a2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MAN1A2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MAN1A2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MAN1A2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | man1a2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | MAN1A2 31 |
|
OneToOne | |
wu:fj20e02 30 |
|
||||
Dr.18766 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000558 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | alpha-Man-I 30 31 32 |
|
ManyToMany | |
CG31202 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | C52E4.5 30 32 |
|
||
mans-1 31 |
|
ManyToMany | |||
D2030.1 32 |
|
|
|||
mans-2 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MNS1 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU02235 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1038 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs34355735 | Benign: not provided | 117,466,336(+) |
T/G NM_006699.5(MAN1A2):c.1077T>G (p.Val359=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv294n100 | CNV | loss | 25217958 |
dgv295n100 | CNV | loss | 25217958 |
dgv296n100 | CNV | loss | 25217958 |
esv1005427 | CNV | deletion | 20482838 |
esv2224574 | CNV | deletion | 18987734 |
esv2661362 | CNV | deletion | 23128226 |
esv3587315 | CNV | loss | 21293372 |
esv3587318 | CNV | loss | 21293372 |
nsv1001257 | CNV | loss | 25217958 |
nsv1006415 | CNV | loss | 25217958 |
nsv1009706 | CNV | gain | 25217958 |
nsv506956 | OTHER | sequence alteration | 20534489 |
nsv519780 | CNV | gain | 19592680 |
nsv819679 | CNV | loss | 19587683 |
nsv831170 | CNV | gain | 17160897 |
nsv951404 | CNV | deletion | 24416366 |
No disorders were found for MAN1A2 Gene.