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This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]
ALG6 (ALG6 Alpha-1,3-Glucosyltransferase) is a Protein Coding gene. Diseases associated with ALG6 include Congenital Disorder Of Glycosylation, Type Ic and Alg6-Congenital Disorder Of Glycosylation. Among its related pathways are N-Glycan biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups and glucosyltransferase activity. An important paralog of this gene is ALG8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004583 | dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity | TAS | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0016758 | transferase activity, transferring hexosyl groups | IEA | -- |
GO:0042281 | dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA,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 | IEA | -- |
GO:0006487 | protein N-linked glycosylation | IDA | 10924277 |
GO:0006488 | dolichol-linked oligosaccharide biosynthetic process | IEA,TAS | -- |
GO:0006490 | oligosaccharide-lipid intermediate biosynthetic process | IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Dolichol-20 |
|
2067-66-5 |
|
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Dolichyl b-D-glucosyl phosphate |
|
220496-27-5 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ALG6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ALG6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ALG6 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Alg6 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Alg6 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ALG6 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ALG6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ALG6 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ALG6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | alg6 30 |
|
||
Str.8942 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2739 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | alg6 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | gny 30 31 |
|
OneToOne | |
CG5091 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008946 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | C08B11.8 30 31 32 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D01221g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ALG6 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACR004W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G38460 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | alg6 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03317 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
842549 | Pathogenic: Congenital disorder of glycosylation type 1C | 63,404,484(+) |
CT/C NM_013339.4(ALG6):c.290del (p.Leu97fs) |
FRAMESHIFT | |
849281 | Pathogenic: Congenital disorder of glycosylation type 1C | 63,407,120(+) |
A/AT NM_013339.4(ALG6):c.492dup (p.Gln165fs) |
FRAMESHIFT | |
851522 | Pathogenic: Congenital disorder of glycosylation type 1C | 63,436,833(+) |
C/CA NM_013339.4(ALG6):c.1338dup (p.Val447fs) |
FRAMESHIFT | |
854201 | Uncertain Significance: Congenital disorder of glycosylation type 1C | 63,371,014(+) |
A/C NM_013339.4(ALG6):c.37A>C (p.Ile13Leu) |
MISSENSE | |
856276 | Pathogenic: Congenital disorder of glycosylation type 1C | 63,404,511(+) |
C/T NM_013339.4(ALG6):c.316C>T (p.Gln106Ter) |
NONSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
congenital disorder of glycosylation, type ic |
|
|
alg6-congenital disorder of glycosylation |
|
|
protein-losing enteropathy |
|
|
congenital disorder of glycosylation, type in |
|
|
immunodeficiency 47 |
|
|