Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
NPL (N-Acetylneuraminate Pyruvate Lyase) is a Protein Coding gene. Diseases associated with NPL include Type 1 Diabetes Mellitus 6 and Campylobacteriosis. 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 lyase activity and N-acetylneuraminate lyase activity. An important paralog of this gene is HOGA1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0008747 | N-acetylneuraminate lyase activity | ISS | -- |
GO:0016829 | lyase activity | IEA | -- |
GO:0042802 | identical protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Synthesis of substrates in N-glycan biosythesis | ||
2 | Metabolism of proteins | ||
3 | Amino sugar and nucleotide sugar metabolism | ||
4 | Metabolism | ||
5 | Transport to the Golgi and subsequent modification |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0019262 | N-acetylneuraminate catabolic process | TAS | 22692205 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17a | · | 17b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NPL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NPL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NPL 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Npl 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Npl 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NPL 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NPL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NPL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NPL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | npl 30 |
|
||
Str.15362 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.20048 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | npl 30 31 |
|
OneToOne | |
wufb53b06 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007700 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6693 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712092 | Benign: not provided | 182,822,206(+) | G/A | INTRON_VARIANT | |
780285 | Benign: not provided | 182,818,662(+) | G/A | SYNONYMOUS_VARIANT | |
784449 | Benign: not provided | 182,814,848(+) | A/G | SYNONYMOUS_VARIANT | |
rs147627214 | Uncertain Significance: not specified | 182,818,681(+) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
type 1 diabetes mellitus 6 |
|
|
campylobacteriosis |
|
|
orofacial cleft 11 |
|
|
hereditary lymphedema |
|
|
sialuria |
|
|