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The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
ALG1 (ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase) is a Protein Coding gene. Diseases associated with ALG1 include Congenital Disorder Of Glycosylation, Type Ik and Nephrotic Syndrome, Type 1. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and chitobiosyldiphosphodolichol beta-mannosyltransferase activity. An important paralog of this gene is ALG1L2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000030 | mannosyltransferase activity | TAS,IBA | 21873635 |
GO:0004578 | chitobiosyldiphosphodolichol beta-mannosyltransferase activity | TAS | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | TAS,IBA | 21873635 |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | N-Glycan biosynthesis | ||
2 | Metabolism of proteins | ||
3 | Metabolism | ||
4 | Transport to the Golgi and subsequent modification | ||
5 | Synthesis of substrates in N-glycan biosythesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | TAS,IDA | 26931382 |
GO:0006488 | dolichol-linked oligosaccharide biosynthetic process | TAS | -- |
GO:0097502 | mannosylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine diphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(N-Acetylglucosaminyl)2-diphosphodolichol |
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Beta-1,4-D-Mannosylchitobiosyldiphosphodolichol |
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Guanosine diphosphate mannose |
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3123-67-9 |
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N,N'-Diacetylchitobiosyldiphosphodolichol |
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ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||
SP6: | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ALG1 30 31 |
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OneToOne | |
Dog (Canis familiaris) |
Mammalia | ALG1 30 |
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-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | ALG1 30 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Alg1 30 17 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | ALG1 30 |
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-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | alg1 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | alg1 30 31 |
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OneToMany | |
-- 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | CG18012 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003551 30 |
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Worm (Caenorhabditis elegans) |
Secernentea | T26A5.4 30 31 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL338C 30 |
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K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B09405g 30 |
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ALG1 30 31 33 |
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OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G16570 30 |
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Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.5786 30 |
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Rice (Oryza sativa) |
Liliopsida | Os03g0180700 30 |
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Bread mold (Neurospora crassa) |
Ascomycetes | NCU07261 30 |
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Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | alg1 30 |
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SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639433 | Uncertain Significance: ALG1-CDG | 5,078,782(+) | G/A | MISSENSE_VARIANT | |
653599 | Pathogenic: ALG1-CDG | 5,081,042(+) | AC/A | FRAMESHIFT_VARIANT | |
654182 | Uncertain Significance: ALG1-CDG | 5,077,509(+) | G/T | MISSENSE_VARIANT | |
681426 | Likely Benign: not provided | 5,075,375(+) | C/G | INTRON_VARIANT | |
682375 | Likely Benign: not provided | 5,077,554(+) | C/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2422516 | CNV | deletion | 17116639 |
esv25186 | CNV | gain | 19812545 |
esv2760069 | CNV | gain+loss | 17122850 |
esv34300 | CNV | gain | 17911159 |
esv3581945 | CNV | loss | 25503493 |
esv3637713 | CNV | gain | 21293372 |
esv3637714 | CNV | gain | 21293372 |
esv3637718 | CNV | loss | 21293372 |
nsv1038475 | CNV | gain | 25217958 |
nsv1039432 | CNV | loss | 25217958 |
nsv1042612 | CNV | loss | 25217958 |
nsv1046986 | CNV | gain | 25217958 |
nsv1052766 | CNV | loss | 25217958 |
nsv1722 | CNV | deletion | 18451855 |
nsv428318 | CNV | gain | 18775914 |
nsv457360 | CNV | loss | 19166990 |
nsv482188 | CNV | gain | 20164927 |
nsv482189 | CNV | gain | 20164927 |
nsv571303 | CNV | loss | 21841781 |
nsv571304 | CNV | loss | 21841781 |
nsv817715 | CNV | gain | 17921354 |
nsv952909 | CNV | deletion | 24416366 |
nsv977106 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
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congenital disorder of glycosylation, type ik |
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nephrotic syndrome, type 1 |
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congenital disorder of glycosylation, type in |
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congenital disorders of n-linked glycosylation and multiple pathway |
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immunodeficiency 47 |
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