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ASRGL1 (Asparaginase And Isoaspartyl Peptidase 1) is a Protein Coding gene. Diseases associated with ASRGL1 include Aspartylglucosaminuria and Immunodeficiency 48. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include hydrolase activity and asparaginase activity. An important paralog of this gene is TASP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003948 | NOT N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity | IDA | 19839645 |
GO:0004067 | asparaginase activity | IBA,IMP | 27106100 |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008798 | beta-aspartyl-peptidase activity | IBA,IDA | 19839645 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001917 | photoreceptor inner segment | ISS | -- |
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005737 | cytoplasm | IBA,ISS | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
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2 | Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism | ||
3 | Alanine, aspartate and glutamate metabolism | ||
4 | Viral mRNA Translation | ||
5 | asparagine degradation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA | -- |
GO:0006559 | L-phenylalanine catabolic process | TAS | -- |
GO:0033345 | asparagine catabolic process via L-aspartate | IBA,ISS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ASRGL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ASRGL1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ASRGL1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Asrgl1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Asrgl1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ASRGL1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ASRGL1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ASRGL1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ASRGL1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | asrgl1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7860 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G16150 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.6054 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
839389 | Uncertain Significance: not provided | 62,337,990(+) |
G/A NM_001083926.2(ASRGL1):c.13G>A (p.Val5Ile) |
MISSENSE | |
839509 | Uncertain Significance: not provided | 62,338,008(+) |
G/A NM_001083926.2(ASRGL1):c.31G>A (p.Gly11Arg) |
MISSENSE | |
842431 | Uncertain Significance: not provided | 62,356,325(+) |
G/A NM_001083926.2(ASRGL1):c.191G>A (p.Gly64Asp) |
MISSENSE | |
851013 | Uncertain Significance: not provided | 62,389,230(+) |
G/A NM_001083926.2(ASRGL1):c.589G>A (p.Val197Ile) |
MISSENSE | |
853054 | Uncertain Significance: not provided | 62,356,344(+) |
C/A NM_001083926.2(ASRGL1):c.210C>A (p.Asn70Lys) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv202e214 | CNV | loss | 21293372 |
dgv218e199 | CNV | deletion | 23128226 |
esv1580794 | CNV | insertion | 17803354 |
esv3408585 | CNV | insertion | 20981092 |
esv3626599 | CNV | gain | 21293372 |
esv3626600 | CNV | gain | 21293372 |
esv3626603 | CNV | gain | 21293372 |
esv3626604 | CNV | loss | 21293372 |
nsv1039105 | CNV | gain | 25217958 |
nsv1053587 | CNV | gain | 25217958 |
nsv468586 | CNV | loss | 19166990 |
nsv516460 | CNV | gain | 19592680 |
nsv555172 | CNV | loss | 21841781 |
nsv555173 | CNV | loss | 21841781 |
nsv983031 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
aspartylglucosaminuria |
|
|
immunodeficiency 48 |
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