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The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]
PPP4R4 (Protein Phosphatase 4 Regulatory Subunit 4) is a Protein Coding gene. Diseases associated with PPP4R4 include Spondylocarpotarsal Synostosis Syndrome and D-Bifunctional Protein Deficiency. Gene Ontology (GO) annotations related to this gene include binding and protein phosphatase regulator activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 18715871 |
GO:0019888 | protein phosphatase regulator activity | IDA | 18715871 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 18715871 |
GO:0005829 | cytosol | IBA,IDA | -- |
GO:0008287 | protein serine/threonine phosphatase complex | IDA | 18715871 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001835 | blastocyst hatching | IEA | -- |
GO:0032515 | negative regulation of phosphoprotein phosphatase activity | IDA | 18715871 |
GO:0080163 | regulation of protein serine/threonine phosphatase activity | IBA,IDA | 18715871 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - |
ExUns: | 26 | ^ | 27 | ^ | 28 |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PPP4R4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PPP4R4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PPP4R4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ppp4r4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ppp4r4 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PPP4R4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PPP4R4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PPP4R4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PPP4R4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ppp4r4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ppp4r4 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | F46C5.6 30 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1958n100 | CNV | loss | 25217958 |
dgv1959n100 | CNV | loss | 25217958 |
dgv1960n100 | CNV | loss | 25217958 |
dgv1961n100 | CNV | loss | 25217958 |
dgv1962n100 | CNV | loss | 25217958 |
esv3635377 | CNV | gain | 21293372 |
esv3635378 | CNV | loss | 21293372 |
esv3892578 | CNV | loss | 25118596 |
esv8117 | OTHER | inversion | 19470904 |
nsv1038407 | CNV | loss | 25217958 |
nsv1050905 | CNV | loss | 25217958 |
nsv1118286 | CNV | deletion | 24896259 |
nsv1121878 | CNV | deletion | 24896259 |
nsv470659 | CNV | gain | 18288195 |
nsv528649 | CNV | loss | 19592680 |
nsv832862 | CNV | gain | 17160897 |
nsv952234 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spondylocarpotarsal synostosis syndrome |
|
|
d-bifunctional protein deficiency |
|
|
perrault syndrome |
|
|