PPEF1

PPEF1
Identifiers
AliasesPPEF1, PP7, PPEF, PPP7C, PPP7CA, protein phosphatase with EF-hand domain 1
External IDsMGI: 1097157 HomoloGene: 55960 GeneCards: PPEF1
Gene location (Human)
Chr.X chromosome (human)[1]
BandNo data availableStart18,675,909 bp[1]
End18,827,921 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

5475

237178

Ensembl

ENSG00000086717

ENSMUSG00000062168

UniProt

O14829

O35655

RefSeq (mRNA)

NM_006240
NM_152223
NM_152224
NM_152225
NM_152226

NM_011147

RefSeq (protein)

NP_006231
NP_689410
NP_689412

NP_035277

Location (UCSC)Chr X: 18.68 – 18.83 MbChr X: 160.62 – 160.74 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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000086717 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000062168 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. PMID 9215685. doi:10.1093/hmg/6.7.1137.
  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. PMC 23563 Freely accessible. PMID 9326663. doi:10.1073/pnas.94.21.11639.
  7. 1 2 "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. PMID 12051765. doi:10.1016/S0006-291X(02)00338-8.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.