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This gene encodes a protein that was found to be overexpressed in prostate adenocarcinomas. The encoded protein was found to interact with the lipid raft protein flotillin-1 and shuttle it from the cytoplasm to the nucleus in a cell cycle dependent manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PTOV1 (PTOV1 Extended AT-Hook Containing Adaptor Protein) is a Protein Coding gene. Diseases associated with PTOV1 include Neuropathy, Hereditary, With Liability To Pressure Palsies. An important paralog of this gene is MED25.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005667 | transcription factor complex | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | · | 10d | · | 10e | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 15b | ^ | 16a | · | 16b | ^ | 17a | · | 17b |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | |||||||||
SP5: | |||||||||
SP6: | - | - | |||||||
SP7: | |||||||||
SP8: | |||||||||
SP9: | |||||||||
SP10: | |||||||||
SP11: | |||||||||
SP12: | |||||||||
SP13: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTOV1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTOV1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTOV1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ptov1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ptov1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PTOV1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | med25 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG13609 30 |
|
||
MED25 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs755715265 | Likely Benign: Long QT syndrome | 49,857,051(+) | A/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv53n68 | CNV | loss | 17160897 |
dgv54n68 | CNV | loss | 17160897 |
nsv1072361 | CNV | deletion | 25765185 |
nsv1118833 | CNV | deletion | 24896259 |
nsv1140251 | OTHER | inversion | 24896259 |
nsv470150 | CNV | gain | 18288195 |
nsv524068 | CNV | loss | 19592680 |
nsv524534 | CNV | loss | 19592680 |
nsv526372 | CNV | loss | 19592680 |
nsv953600 | CNV | deletion | 24416366 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neuropathy, hereditary, with liability to pressure palsies |
|
|