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The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
ASNS (Asparagine Synthetase (Glutamine-Hydrolyzing)) is a Protein Coding gene. Diseases associated with ASNS include Asparagine Synthetase Deficiency and Cystathioninuria. Among its related pathways are Photodynamic therapy-induced unfolded protein response and PERK regulates gene expression. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and asparagine synthase (glutamine-hydrolyzing) activity. An important paralog of this gene is ASNSD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004066 | asparagine synthase (glutamine-hydrolyzing) activity | IBA,IDA | 2564390 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0005524 | ATP binding | IEA | -- |
GO:0016874 | ligase activity | IEA | -- |
GO:0042803 | protein homodimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
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2 | Amino acid synthesis and interconversion (transamination) | ||
3 | PERK regulates gene expression | ||
4 | Alanine, aspartate and glutamate metabolism | ||
5 | Carbon metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001889 | liver development | IEA | -- |
GO:0006520 | cellular amino acid metabolic process | IEA | -- |
GO:0006529 | asparagine biosynthetic process | IDA | 2573597 |
GO:0006541 | glutamine metabolic process | IEA | -- |
GO:0008652 | cellular amino acid biosynthetic process | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
asparagine | Approved, Investigational | Nutra | Target | 0 | ||
Aspartic acid | Approved | Nutra | Target | 171 | ||
Glutamic acid | Approved | Nutra | Full agonist, Agonist, Target | 281 | ||
L-Glutamine | Approved, Investigational | Nutra | Full agonist, Agonist, Enzyme, substrate | 0 | ||
Famotidine | Approved | Pharma | Histamine H2-receptor antagonist | 70 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | ASNS 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | ASNS 33 |
|
OneToOne | |
LOC475240 32 |
|
||||
cow (Bos Taurus) |
Mammalia | ASNS 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Asns 32 |
|
||
mouse (Mus musculus) |
Mammalia | Asns 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | ASNS 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | ASNS 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | ASNS 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | asns 32 |
|
||
Str.4783 32 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | asns 33 32 |
|
OneToOne | |
zgc56605 32 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9138 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | asparagine-synthetase 33 |
|
OneToOne | |
worm (Caenorhabditis elegans) |
Secernentea | asns-1 33 32 |
|
OneToOne | |
nrs-2 34 |
|
|
|||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ASN2 35 33 |
|
||
ASN1 33 |
|
OneToMany | |||
rice (Oryza sativa) |
Liliopsida | Os.135 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany | |||
Cin.14999 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.14999 32 |
|
SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1481539409 | pathogenic, Asparagine synthetase deficiency | 97,859,285(-) | TTT/TT | coding_sequence_variant, frameshift | |
rs1554347511 | uncertain-significance, Inborn genetic diseases | 97,853,336(-) | A/C | coding_sequence_variant, missense_variant | |
rs1554350554 | likely-pathogenic, Asparagine synthetase deficiency | 97,868,955(-) | G/T | coding_sequence_variant, intron_variant, missense_variant | |
rs1562817048 | pathogenic, Asparagine synthetase deficiency | 97,859,317(-) | A/C | coding_sequence_variant, stop_gained | |
rs1562823595 | uncertain-significance, Asparagine synthetase deficiency | 97,869,128(-) | C/T | coding_sequence_variant, intron_variant, missense_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3621n106 | CNV | deletion | 24896259 |
dgv444e215 | CNV | deletion | 23714750 |
esv2672632 | CNV | deletion | 23128226 |
esv2734862 | CNV | deletion | 23290073 |
esv2759546 | CNV | loss | 17122850 |
nsv428178 | CNV | gain | 18775914 |
nsv970554 | CNV | duplication | 23825009 |
nsv981551 | CNV | duplication | 23825009 |
nsv981552 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
asparagine synthetase deficiency |
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|
cystathioninuria |
|
|
chronic rhinitis |
|
|
tracheitis |
|
|
leukemia, acute lymphoblastic |
|