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This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
RUFY1 (RUN And FYVE Domain Containing 1) is a Protein Coding gene. Diseases associated with RUFY1 include Gerstmann Syndrome. Among its related pathways are PI Metabolism and Endocytosis. Gene Ontology (GO) annotations related to this gene include lipid binding and protein transporter activity. An important paralog of this gene is RUFY2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21988832 |
GO:0008289 | lipid binding | IEA | -- |
GO:0017124 | SH3 domain binding | IPI | 11877430 |
GO:0042169 | SH2 domain binding | IPI | 11877430 |
GO:0042802 | identical protein binding | IPI | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005768 | endosome | IEA,IDA | 11877430 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016607 | nuclear speck | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | PI Metabolism |
.63
|
|
3 | Endocytosis | ||
4 | Glycerophospholipid biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
GO:0006897 | endocytosis | IEA | -- |
GO:0007264 | small GTPase mediated signal transduction | IEA | -- |
GO:0015031 | protein transport | IBA | 21873635 |
GO:0030100 | regulation of endocytosis | IBA,IPI | 11877430 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | · | 17c | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 18a | · | 18b | · | 18c | ^ | 19a | · | 19b | ^ | 20a | · | 20b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||
SP2: | - | - | - | ||||||||||
SP3: | - | - | - | ||||||||||
SP4: | |||||||||||||
SP5: | |||||||||||||
SP6: | |||||||||||||
SP7: | |||||||||||||
SP8: | |||||||||||||
SP9: | |||||||||||||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC462328 30 |
|
||
RUFY1 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | RUFY1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RUFY1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rufy1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rufy1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RUFY1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RUFY1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RUFY1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RUFY1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rufy1 30 |
|
||
Str.16805 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100330077 30 |
|
||
RUFY1 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG31064 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10485 30 |
|
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
VAR_035985 | A breast cancer sample |
p.Cys267Phe |
|||
rs6879322 | - |
p.His298Gln |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759397 | CNV | gain | 17122850 |
esv3429456 | CNV | duplication | 20981092 |
esv3607747 | CNV | gain | 21293372 |
esv3607748 | CNV | gain | 21293372 |
esv3890773 | CNV | gain | 25118596 |
nsv1022509 | CNV | gain | 25217958 |
nsv1074895 | CNV | deletion | 25765185 |
nsv1137049 | CNV | deletion | 24896259 |
nsv1145083 | CNV | deletion | 24896259 |
nsv281 | OTHER | inversion | 15895083 |
nsv477188 | CNV | novel sequence insertion | 20440878 |
nsv477317 | CNV | novel sequence insertion | 20440878 |
nsv5159 | CNV | insertion | 18451855 |
nsv7375 | OTHER | inversion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
gerstmann syndrome |
|
|