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PLEKHF1 (Pleckstrin Homology And FYVE Domain Containing 1) is a Protein Coding gene. Diseases associated with PLEKHF1 include 46,Xy Sex Reversal 8 and Congenital Anomalies Of Kidney And Urinary Tract 2. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-3-phosphate binding and phosphatidylinositol-5-phosphate binding. An important paralog of this gene is PLEKHF2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0010314 | phosphatidylinositol-5-phosphate binding | IDA | 22115783 |
GO:0032266 | phosphatidylinositol-3-phosphate binding | IDA | 22115783 |
GO:0035091 | phosphatidylinositol binding | IBA | 21873635 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005764 | lysosome | IDA | 22115783 |
GO:0005765 | lysosomal membrane | IC | 22115783 |
GO:0005768 | colocalizes_with endosome | IDA | 22115783 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA | -- |
GO:0007032 | endosome organization | IMP | 22115783 |
GO:0010508 | positive regulation of autophagy | IDA | 22115783 |
GO:0016050 | vesicle organization | IMP | 22115783 |
GO:0072659 | protein localization to plasma membrane | IMP | 22115783 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||
SP2: | - | ||||||||||||||||||
SP3: | - | - | |||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PLEKHF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | bta-mir-2901 31 |
|
OneToOne | |
PLEKHF1 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | PLEKHF1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Plekhf1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Plekhf1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PLEKHF1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PLEKHF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PLEKHF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PLEKHF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | plekhf1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | plekhf1 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | RhoGEF4 31 |
|
ManyToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | tag-52 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711219 | Benign: not provided | 29,674,486(+) | G/A | MISSENSE_VARIANT | |
727604 | Likely Benign: not provided | 29,674,562(+) | G/T | SYNONYMOUS_VARIANT | |
730019 | Benign: not provided | 29,674,083(+) | C/T | SYNONYMOUS_VARIANT | |
769452 | Benign: not provided | 29,673,890(+) | A/G | SYNONYMOUS_VARIANT | |
777467 | Benign: not provided | 29,674,277(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1061174 | CNV | gain | 25217958 |
nsv1061604 | CNV | loss | 25217958 |
nsv833799 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
46,xy sex reversal 8 |
|
|
congenital anomalies of kidney and urinary tract 2 |
|
|
prune belly syndrome |
|
|
capillary malformations, congenital |
|
|
vesicoureteral reflux 1 |
|
|