Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]
LNX1 (Ligand Of Numb-Protein X 1) is a Protein Coding gene. Diseases associated with LNX1 include Usher Syndrome and Q Fever. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and PDZ domain binding. An important paralog of this gene is LNX2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004842 | ubiquitin-protein transferase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 16002321 |
GO:0016740 | transferase activity | IEA | -- |
GO:0030165 | PDZ domain binding | IEA | -- |
GO:0042802 | identical protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Innate Immune System |
.61
|
|
3 | Notch Signaling Pathway (WikiPathways) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006511 | ubiquitin-dependent protein catabolic process | IEA | -- |
GO:0016567 | protein ubiquitination | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phosphoric acid | Approved | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LNX1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LNX1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LNX1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lnx1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Lnx1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LNX1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Chicken (Gallus gallus) |
Aves | LNX1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LNX1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lnx1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | lnx1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | inaD 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1673226 | CNV | insertion | 17803354 |
esv28169 | CNV | gain | 19812545 |
esv3303852 | CNV | mobile element insertion | 20981092 |
esv3307826 | CNV | mobile element insertion | 20981092 |
esv3309918 | CNV | mobile element insertion | 20981092 |
esv3331791 | CNV | duplication | 20981092 |
esv3339869 | CNV | insertion | 20981092 |
esv3379648 | CNV | insertion | 20981092 |
esv3600527 | CNV | loss | 21293372 |
nsv1115671 | CNV | duplication | 24896259 |
nsv1146065 | CNV | duplication | 26484159 |
nsv437918 | CNV | loss | 16468122 |
nsv476884 | CNV | novel sequence insertion | 20440878 |
nsv516916 | CNV | loss | 19592680 |
nsv829936 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
usher syndrome |
|
|
q fever |
|
|
autoimmune enteropathy |
|
|
brittle cornea syndrome 2 |
|
|
muscular dystrophy, congenital, lmna-related |
|
|