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This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
ALG14 (ALG14 UDP-N-Acetylglucosaminyltransferase Subunit) is a Protein Coding gene. Diseases associated with ALG14 include Myasthenic Syndrome, Congenital, 15 and Congenital Myasthenic Syndromes With Glycosylation Defect. Among its related pathways are Transport to the Golgi and subsequent modification and Synthesis of substrates in N-glycan biosythesis.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004577 | contributes_to N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
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:0006488 | dolichol-linked oligosaccharide biosynthetic process | IBA,TAS | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||
SP3: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | ALG14 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | ALG14 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Alg14 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Alg14 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | ALG14 33 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | ALG14 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | ALG14 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | ALG14 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | ALG14 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | alg14 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | alg14 33 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003461 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | CG6308 33 32 |
|
OneToOne | |
worm (Caenorhabditis elegans) |
Secernentea | hpo-16 33 |
|
OneToOne | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ALG14 35 33 |
|
||
thale cress (Arabidopsis thaliana) |
eudicotyledons | AT4G18230 32 |
|
||
fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | alg14 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne |
SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11165298 | likely-benign, Myasthenic syndrome, congenital, 15, - | 95,072,859(-) | C/G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs1156822888 | uncertain-significance, Myasthenic syndrome, congenital, 15 | 95,072,813(-) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs138996965 | uncertain-significance, Myasthenic syndrome, congenital, 15 | 95,064,972(-) | T/C | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
rs139521179 | uncertain-significance, likely-benign, not provided, Myasthenic syndrome, congenital, 15 | 95,072,786(-) | C/A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs141065009 | benign, Myasthenic syndrome, congenital, 15 | 95,064,983(-) | C/T | coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv57n67 | CNV | loss | 20364138 |
esv1116942 | CNV | insertion | 17803354 |
esv2670670 | CNV | deletion | 23128226 |
esv3578014 | CNV | loss | 25503493 |
esv3586846 | CNV | loss | 21293372 |
esv5799 | CNV | loss | 19470904 |
esv993631 | CNV | insertion | 20482838 |
nsv1142064 | CNV | tandem duplication | 24896259 |
nsv1152666 | CNV | insertion | 26484159 |
nsv498675 | CNV | loss | 21111241 |
nsv513994 | CNV | loss | 21397061 |
nsv830636 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myasthenic syndrome, congenital, 15 |
|
|
congenital myasthenic syndromes with glycosylation defect |
|
|
congenital myasthenic syndrome |
|
|