PPEF1

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PPEF1
Identifiers
AliasesPPEF1, PP7, PPEF, PPP7C, PPP7CA, protein phosphatase with EF-hand domain 1
External IDsOMIM: 300109 MGI: 1097157 HomoloGene: 55960 GeneCards: PPEF1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_011147

RefSeq (protein)

NP_035277

Location (UCSC)Chr X: 18.68 – 18.83 MbChr X: 159.41 – 159.52 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Serine/threonine-protein phosphatase with EF-hands 1 is an enzyme that in humans is encoded by the PPEF1 gene.[5][6][7]

Function[]

This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described.[7]

Interactions[]

PPEF1 has been shown to interact with Calmodulin 1.[8]

References[]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000086717 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000062168 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Montini E, Rugarli EI, Van de Vosse E, Andolfi G, Mariani M, Puca AA, Consalez GG, den Dunnen JT, Ballabio A, Franco B (Jul 1997). "A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin". Human Molecular Genetics. 6 (7): 1137–45. doi:10.1093/hmg/6.7.1137. PMID 9215685.
  6. ^ Sherman PM, Sun H, Macke JP, Williams J, Smallwood PM, Nathans J (Oct 1997). "Identification and characterization of a conserved family of protein serine/threonine phosphatases homologous to Drosophila retinal degeneration C". Proceedings of the National Academy of Sciences of the United States of America. 94 (21): 11639–44. doi:10.1073/pnas.94.21.11639. PMC 23563. PMID 9326663.
  7. ^ a b "Entrez Gene: PPEF1 protein phosphatase, EF-hand calcium binding domain 1".
  8. ^ Kutuzov MA, Solov'eva OV, Andreeva AV, Bennett N (May 2002). "Protein Ser/Thr phosphatases PPEF interact with calmodulin". Biochemical and Biophysical Research Communications. 293 (3): 1047–52. doi:10.1016/S0006-291X(02)00338-8. PMID 12051765.

Further reading[]


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