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This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]
PPM1K (Protein Phosphatase, Mg2+/Mn2+ Dependent 1K) is a Protein Coding gene. Diseases associated with PPM1K include Maple Syrup Urine Disease, Mild Variant and Intermediate Maple Syrup Urine Disease. Among its related pathways are Viral mRNA Translation and Metabolism. Gene Ontology (GO) annotations related to this gene include protein serine/threonine phosphatase activity. An important paralog of this gene is PPM1L.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
GO:0004722 | protein serine/threonine phosphatase activity | IEA | -- |
GO:0004724 | magnesium-dependent protein serine/threonine phosphatase activity | IBA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IDA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Valine, leucine and isoleucine degradation | ||
2 | Metabolism |
.40
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3 | Viral mRNA Translation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006470 | protein dephosphorylation | IEA | -- |
GO:0009083 | branched-chain amino acid catabolic process | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - |
ExUns: | 12b |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: | |
SP10: | |
SP11: | |
SP12: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PPM1K 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PPM1K 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PPM1K 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PPM1K 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ppm1k 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ppm1k 30 |
|
||
Chicken (Gallus gallus) |
Aves | PPM1K 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PPM1K 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100487567 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ppm1k 31 |
|
OneToMany | |
PPM1K (2 of 2) 31 |
|
OneToMany | |||
si:ch211-149b19.3 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10186 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PTC1 31 |
|
OneToMany | |
PTC6 33 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G78200 30 |
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
655372 | Uncertain Significance: Maple syrup urine disease, mild variant | 88,268,909(-) | A/G | INTRON_VARIANT | |
664284 | Uncertain Significance: Maple syrup urine disease, mild variant | 88,262,733(-) | G/C | INTRON_VARIANT | |
714645 | Likely Benign: not provided | 88,277,225(-) | C/T | SYNONYMOUS_VARIANT | |
729996 | Likely Benign: Maple syrup urine disease, mild variant | 88,268,339(-) | T/C | INTRON_VARIANT | |
755948 | Likely Benign: not provided | 88,264,992(-) | C/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759266 | CNV | gain | 17122850 |
esv3575758 | CNV | gain | 25503493 |
nsv474553 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
maple syrup urine disease, mild variant |
|
|
intermediate maple syrup urine disease |
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|
maple syrup urine disease |
|
|
branched-chain keto acid dehydrogenase kinase deficiency |
|
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inflammatory bowel disease 7 |
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|