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The protein encoded by this intronless gene interacts with GTP-bound Rab15 and is involved in recycling of transferrin receptor from the endocytic recycling compartment to the cell surface. [provided by RefSeq, Sep 2016]
REP15 (RAB15 Effector Protein) is a Protein Coding gene. Diseases associated with REP15 include Pancreatic Acinar Cell Adenocarcinoma.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16195351 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005768 | endosome | IEA | -- |
GO:0010008 | endosome membrane | IBA,IDA | 16195351 |
GO:0016020 | membrane | IEA | -- |
GO:0031901 | early endosome membrane | IEA | -- |
GO:0048471 | perinuclear region of cytoplasm | IDA | 16195351 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001881 | receptor recycling | IBA,IMP | 16195351 |
GO:0033572 | transferrin transport | IBA,IDA | 16195351 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | REP15 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | REP15 30 |
|
||
Cow (Bos Taurus) |
Mammalia | REP15 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rep15 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rep15 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | REP15 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rep15 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs12819160 | - | p.Glu206Asp | |||
rs929949 | - | p.Asn101Asp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2745664 | CNV | deletion | 23290073 |
esv2761729 | CNV | gain | 21179565 |
nsv469178 | CNV | gain | 19166990 |
nsv557823 | CNV | gain | 21841781 |
nsv832358 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pancreatic acinar cell adenocarcinoma |
|
|