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AFTPH (Aftiphilin) is a Protein Coding gene. Diseases associated with AFTPH include Retinitis Pigmentosa 28. Gene Ontology (GO) annotations related to this gene include clathrin binding. An important paralog of this gene is CLBA1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030276 | clathrin binding | IBA,IDA | 15758025 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005794 | Golgi apparatus | IDA | -- |
GO:0005829 | cytosol | IDA | 15758025 |
GO:0030121 | AP-1 adaptor complex | IDA | 15758025 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015031 | protein transport | IEA | -- |
GO:0046907 | intracellular transport | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | AFTPH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AFTPH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AFTPH 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Aftph 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Aftph 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | AFTPH 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AFTPH 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AFTPH 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AFTPH 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.33172 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.14898 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | aftpha 30 31 |
|
OneToMany | |
aftphb 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | Y45G5AM.9 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs35986567 | - |
p.Asp233Gly |
|||
rs3770739 | - |
p.Asn550Ser |
|||
rs3770740 | - |
p.Glu301Lys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3305336 | CNV | mobile element insertion | 20981092 |
esv3405914 | CNV | insertion | 20981092 |
nsv1006553 | CNV | gain | 25217958 |
nsv2754 | CNV | insertion | 18451855 |
nsv2756 | CNV | deletion | 18451855 |
nsv472161 | CNV | novel sequence insertion | 20440878 |
nsv582127 | CNV | gain | 21841781 |
nsv7313 | OTHER | inversion | 18451855 |
nsv820060 | CNV | loss | 19587683 |
nsv834245 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 28 |
|
|