Protein Phosphatase, Magnesium/Manganese-Dependent, 1F

Alternative Names

  • PPM1F
  • Partner of Pix 2
  • POPX2
  • Calcium/Calmodulin-Dependent Protein Kinase Phosphatase
  • CAMKP
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OMIM Number

619309

NCBI Gene ID

9647

Uniprot ID

P49593

Length

33,424 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Protein phosphatase 1F

Molecular Mass

49831 Da

Amino Acid Count

454

Genomic Location

chr22:21,919,425-21,952,848

Gene Map Locus
22q11.22

Description

The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014634.4:c.904C>TSaudi ArabiaNC_000022.11:g.21925650G>AUncertain SignificanceLikely PathogenicCholestasis, Progressive Familial Intrahepatic, 1NM_014634.4:c.904C>T; NP_055449.1:p.Arg302Cys9459023721329853
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