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This gene encodes a protein with limited similarity to L-amino acid oxidase which contains the conserved amino acids thought to be involved in catalysis and binding of flavin adenine dinucleotide (FAD) cofactor. The expression of this gene can be induced by interleukin 4 in B cells, however, expression of transcripts containing the first two exons of the upstream gene is found in other cell types. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
IL4I1 (Interleukin 4 Induced 1) is a Protein Coding gene. Diseases associated with IL4I1 include Striatonigral Degeneration, Infantile and Corneal Abscess. Among its related pathways are Tyrosine metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and L-amino-acid oxidase activity. An important paralog of this gene is KDM1A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001716 | L-amino-acid oxidase activity | IBA | 21873635 |
GO:0016491 | oxidoreductase activity | IEA,IBA | 21873635 |
GO:0046592 | polyamine oxidase activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005764 | lysosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Tyrosine metabolism | ||
2 | Metabolism |
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3 | Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism | ||
4 | Alanine, aspartate and glutamate metabolism | ||
5 | Sulfur amino acid metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006559 | L-phenylalanine catabolic process | TAS | -- |
GO:0009063 | cellular amino acid catabolic process | IBA | 21873635 |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
FAD | Approved | Pharma | Target | 0 | ||
Citric acid | Approved, Vet_approved | Nutra | Activator, Agonist, Target | 1509 | ||
Oxygen | Approved, Vet_approved | Pharma | 0 | |||
Phenylalanine | Approved, Investigational | Nutra | 256 | |||
Tyrosine | Approved, Investigational | Nutra | 1044 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-Methyl-2-oxovaleric acid |
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1460-34-0 |
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Indolepyruvate |
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35656-49-6 |
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Oxalacetic acid |
|
328-42-7 |
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ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 |
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SP1: | |||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IL4I1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IL4I1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Il4i1 30 17 31 |
|
OneToOne | |
Il4i1b 17 |
|
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|||
Rat (Rattus norvegicus) |
Mammalia | LOC100360621 30 |
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Cow (Bos Taurus) |
Mammalia | IL4I1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IL4I1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IL4I1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IL4I1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100493881 30 |
|
||
LOC394934 30 |
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||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.1078 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-40g16.6 30 |
|
||
IL4I1 31 |
|
OneToOne | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11911 30 |
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||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU01066 30 |
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Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2768 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708003 | Benign: not provided | 49,908,948(-) | G/GTGC | INFRAME_INSERTION,INTRON_VARIANT | |
713586 | Likely Benign: not provided | 49,909,145(-) | G/C | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
718162 | Benign: not provided | 49,909,531(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
718364 | Likely Benign: not provided | 49,908,425(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
719935 | Benign: not provided | 49,908,290(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv53n68 | CNV | loss | 17160897 |
dgv54n68 | CNV | loss | 17160897 |
esv3583457 | CNV | loss | 25503493 |
esv3644628 | CNV | gain | 21293372 |
esv3644630 | CNV | gain | 21293372 |
esv996372 | CNV | deletion | 20482838 |
nsv1058623 | CNV | gain | 25217958 |
nsv1065648 | CNV | gain | 25217958 |
nsv1131436 | CNV | deletion | 24896259 |
nsv1140251 | OTHER | inversion | 24896259 |
nsv2519 | CNV | deletion | 18451855 |
nsv458720 | CNV | gain | 19166990 |
nsv524068 | CNV | loss | 19592680 |
nsv579910 | CNV | gain | 21841781 |
nsv7309 | OTHER | inversion | 18451855 |
nsv953600 | CNV | deletion | 24416366 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
striatonigral degeneration, infantile |
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corneal abscess |
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subclavian steal syndrome |
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striatonigral degeneration |
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esophageal tuberculosis |
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