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This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
INPP5K (Inositol Polyphosphate-5-Phosphatase K) is a Protein Coding gene. Diseases associated with INPP5K include Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability and Marinesco-Sjogren Syndrome. Among its related pathways are PI Metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include vasopressin receptor activity and lipid phosphatase activity. An important paralog of this gene is INPP5J.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004439 | phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | IBA,IMP | 28190456 |
GO:0004445 | inositol-polyphosphate 5-phosphatase activity | IEA | -- |
GO:0005000 | vasopressin receptor activity | IEA,ISS | -- |
GO:0005515 | protein binding | IPI | 16002321 |
GO:0016312 | inositol bisphosphate phosphatase activity | IBA,IDA | 10753883 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001726 | ruffle | IDA | 12536145 |
GO:0005634 | nucleus | IDA | 18774950 |
GO:0005737 | cytoplasm | IBA,ISS | -- |
GO:0005783 | endoplasmic reticulum | IBA,IDA | 12536145 |
GO:0005802 | trans-Golgi network | IDA | 12556481 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | superpathway of inositol phosphate compounds | ||
2 | Metabolism |
.40
|
|
3 | PI Metabolism |
.63
|
|
4 | Glycerophospholipid biosynthesis | ||
5 | 3-phosphoinositide degradation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0001933 | negative regulation of protein phosphorylation | IEA,ISS | -- |
GO:0005979 | regulation of glycogen biosynthetic process | IEA,ISS | -- |
GO:0006469 | negative regulation of protein kinase activity | IDA | 12556481 |
GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
D-myo-Inositol 1,4-bisphosphate |
|
74465-19-3 |
|
|
||
Inositol 1,3,4-trisphosphate |
|
98102-63-7 |
|
|||
myo-Inositol 1,3,4,5-tetrakisphosphate |
|
99610-76-1 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | · | 1h | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP14: | - |
ExUns: | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: | |||||||
SP3: | |||||||
SP4: | |||||||
SP5: | |||||||
SP6: | |||||||
SP7: | |||||||
SP8: | |||||||
SP9: | |||||||
SP10: | |||||||
SP11: | |||||||
SP12: | |||||||
SP13: | |||||||
SP14: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | INPP5K 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | INPP5K 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | INPP5K 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Inpp5k 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Inpp5k 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | INPP5K 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | INPP5K 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | INPP5K 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | inpp5k 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14338 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:162883 30 |
|
||
INPP5K (1 of 2) 31 |
|
OneToMany | |||
inpp5k 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6805 31 |
|
ManyToMany | |
CG9784 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1060505038 | Pathogenic: Muscular dystrophy, congenital, with cataracts and intellectual disability. Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404] | 1,513,875(-) |
A/Gp.Ile50Thr NM_016532.4(INPP5K):c.149T>C (p.Ile50Thr) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
rs1060505039 | Pathogenic: Muscular dystrophy, congenital, with cataracts and intellectual disability. Muscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID) [MIM:617404] | 1,509,784(-) |
T/Cp.Met93Val NM_016532.4(INPP5K):c.277A>G (p.Met93Val) |
MISSENSE | |
rs1060505040 | Pathogenic: Muscular dystrophy, congenital, with cataracts and intellectual disability | 1,496,097(-) |
CTG/C NM_016532.4(INPP5K):c.1251_1252del (p.Asn417fs) |
FRAMESHIFT | |
rs138432703 | Likely Benign: not provided | 1,498,035(-) |
C/T NM_016532.4(INPP5K):c.864G>A (p.Pro288=) |
SYNONYMOUS | |
rs141143176 | Likely Benign: not provided | 1,513,501(-) |
C/T NM_016532.4(INPP5K):c.213G>A (p.Ser71=) |
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv877e212 | CNV | loss | 25503493 |
esv2715465 | CNV | deletion | 23290073 |
esv2715466 | CNV | deletion | 23290073 |
esv3582474 | CNV | loss | 25503493 |
nsv1057782 | CNV | gain | 25217958 |
nsv833334 | CNV | loss | 17160897 |
nsv952098 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
muscular dystrophy, congenital, with cataracts and intellectual disability |
|
|
marinesco-sjogren syndrome |
|
|
muscular dystrophy |
|
|
parkinson disease 20, early-onset |
|
|
macrocephaly/autism syndrome |
|
|