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This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
APOL3 (Apolipoprotein L3) is a Protein Coding gene. Diseases associated with APOL3 include Queensland Tick Typhus and Embryoma. Among its related pathways are Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF). Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and lipid transporter activity. An important paralog of this gene is APOL4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005319 | lipid transporter activity | TAS | 10233894 |
GO:0008289 | lipid binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF) |
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006869 | lipid transport | IEA | -- |
GO:0006954 | inflammatory response | TAS | 10233894 |
GO:0042157 | lipoprotein metabolic process | IEA | -- |
GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | HMP | 12761501 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | · | 12d | · | 12e | · | 12f | · | 12g |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP15: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | APOL3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LOC100847379 30 |
|
||
APOL3 31 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | LOC100910885 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Apol8 31 |
|
ManyToMany | |
Apol9a 31 |
|
ManyToMany | |||
Apol7c 31 |
|
ManyToMany | |||
Apol9b 31 |
|
ManyToMany | |||
Apol7b 31 |
|
ManyToMany | |||
Apol7e 31 |
|
ManyToMany | |||
Apol11a 31 |
|
ManyToMany | |||
Apol10b 31 |
|
ManyToMany | |||
Apol10a 31 |
|
ManyToMany | |||
Apol11b 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | APOL4 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714120 | Likely Benign: not provided | 36,141,764(-) | C/T | SYNONYMOUS_VARIANT | |
747554 | Likely Benign: not provided | 36,160,788(-) | C/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
764006 | Benign: not provided | 36,160,826(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
764007 | Likely Benign: not provided | 36,160,853(-) | A/C | MISSENSE_VARIANT,INTRON_VARIANT | |
771540 | Benign: not provided | 36,145,519(-) | T/C | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4563n100 | CNV | loss | 25217958 |
dgv8093n54 | CNV | loss | 21841781 |
esv2751964 | CNV | loss | 17911159 |
esv2762122 | CNV | loss | 21179565 |
esv3307709 | CNV | mobile element insertion | 20981092 |
esv3307902 | CNV | mobile element insertion | 20981092 |
esv3356489 | CNV | insertion | 20981092 |
esv3431226 | CNV | insertion | 20981092 |
esv3575477 | CNV | gain | 25503493 |
esv3647677 | CNV | loss | 21293372 |
nsv521866 | CNV | loss | 19592680 |
nsv526454 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
queensland tick typhus |
|
|
embryoma |
|
|