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PLD6 (Phospholipase D Family Member 6) is a Protein Coding gene. Diseases associated with PLD6 include Heavy Chain Disease and Retinitis Pigmentosa 49. Among its related pathways are Glycerophospholipid biosynthesis and Mitotic Prophase. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and cardiolipin hydrolase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004518 | nuclease activity | IEA | -- |
GO:0004519 | endonuclease activity | IEA | -- |
GO:0005515 | protein binding | IPI | 26711011 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005741 | mitochondrial outer membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycerophospholipid biosynthesis |
.01
|
|
2 | Metabolism |
.40
|
|
3 | Gene Expression |
.48
|
|
4 | Mitotic Prophase | ||
5 | PIWI-interacting RNA (piRNA) biogenesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006654 | phosphatidic acid biosynthetic process | TAS | -- |
GO:0007283 | spermatogenesis | IEA | -- |
GO:0007286 | spermatid development | ISS | -- |
GO:0008053 | mitochondrial fusion | IMP | 17028579 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
CE(22:0) |
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61510-09-6 |
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PC(18:1(9Z)e/2:0) |
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PC(20:2(11Z,14Z)/18:1(11Z)) |
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PC(22:4(7Z,10Z,13Z,16Z)/18:1(11Z)) |
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2461-62-3 |
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Phosphatidylcholines Group A |
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4235-95-4, 18194-24-6, 92345-33-0, 944466-40-4, 253127-60-5, 203393-41-3, 85046-19-1, 56421-10-4, 53595-24-7, 27098-24-4, 59403-51-9, 85082-02-6, 26853-31-6, 17708-90-6, 203393-39-9, 35418-59-8, 17041-44-0, 35418-58-7, 2701-19-1, 1191905-21-1, 85082-03-7, 324054-21-9, 182820-31-1 |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PLD6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PLD6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PLD6 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pld6 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pld6 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PLD6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pld6 30 |
|
||
Str.16063 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16857 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pld6 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | zuc 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs116547825 | Benign: not provided | 17,202,965(-) |
G/A NM_178836.4(PLD6):c.561C>T (p.Leu187=) |
SYNONYMOUS | |
rs11551966 | - |
p.Arg108His |
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rs17856924 | - |
p.Leu42Pro |
Disorder | Aliases | PubMed IDs |
---|---|---|
heavy chain disease |
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retinitis pigmentosa 49 |
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