PCP4

PCP4
Identifiers
Aliases	PCP4 , PEP-19, Purkinje cell protein 4
External IDs	OMIM: 601629; MGI: 97509; HomoloGene: 4519; GeneCards: PCP4; OMA:PCP4 - orthologs
Gene location (Human) Chr. Chromosome 21 (human) [1] Band 21q22.2 Start 39,867,438 bp [1] End 39,929,397 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16 C4|16 56.97 cM Start 96,268,806 bp [2] End 96,326,993 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lateral nuclear group of thalamus external globus pallidus middle frontal gyrus Epithelium of choroid plexus putamen caudate nucleus nucleus accumbens seminal vesicula retinal pigment epithelium internal globus pallidus Top expressed in striatum of neuraxis olfactory bulb cerebellum layer of retina neural layer of retina cerebellar cortex superior frontal gyrus dentate gyrus of hippocampal formation granule cell urinary bladder primary visual cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding calcium ion binding calmodulin binding Cellular component cytosol nucleus protein-containing complex Biological process positive regulation of neuron differentiation calmodulin dependent kinase signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5121 18546 Ensembl ENSG00000183036 ENSMUSG00000090223 UniProt P48539 P63054 RefSeq (mRNA) NM_006198 NM_008791 RefSeq (protein) NP_006189 NP_032817 Location (UCSC) Chr 21: 39.87 – 39.93 Mb Chr 16: 96.27 – 96.33 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Purkinje cell protein 4 is a protein that in humans is encoded by the PCP4 gene. ^{[5] [6] [7]} Also known as PEP-19, PCP4 is a 7.6 kDa protein with an IQ-motif that binds to calmodulin (CaM). ^[8] PCP4 is abundant in Purkinje cells of the cerebellum, and plays an important role in synaptic plasticity. ^{[8] [9]}

Function

PCP4 knockout mice have been reported to exhibit impaired locomotor learning and markedly altered synaptic plasticity in cerebellar Purkinje neurons. ^[8] PCP4 accelerates both the association and dissociation of calcium (Ca²⁺) with calmodulin (CaM), which is postulated to influence the activity of CaM-dependent enzymes, especially CaM kinase II (CaMK-II). ^{[8] [10] [11]}

References

1. GRCh38: Ensembl release 89: ENSG00000183036 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000090223 – 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. Chen H, Bouras C, Antonarakis SE (Jan 1997). "Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3". Hum Genet. 98 (6): 672–7. doi:10.1007/s004390050282. PMID   8931698. S2CID   19837689.
6. Cabin DE, Gardiner K, Reeves RH (Dec 1996). "Molecular genetic characterization and comparative mapping of the human PCP4 gene". Somat Cell Mol Genet. 22 (3): 167–75. doi:10.1007/BF02369907. PMID   8914602. S2CID   41800640.
7. "Entrez Gene: PCP4 Purkinje cell protein 4".
8. Wei P, Blundon JA, Rong Y, Zakharenko SS, Morgan JI (2011). "Impaired locomotor learning and altered cerebellar synaptic plasticity in pep-19/PCP4-null mice". Mol. Cell. Biol. 31 (14): 2838–44. doi:10.1128/MCB.05208-11. PMC   3133400 . PMID   21576365.
9. Sangameswaran L, Hempstead J, Morgan JI (1989). "Molecular cloning of a neuron-specific transcript and its regulation during normal and aberrant cerebellar development". Proc. Natl. Acad. Sci. U.S.A. 86 (14): 5651–5. Bibcode:1989PNAS...86.5651S. doi: 10.1073/pnas.86.14.5651 . PMC   297682 . PMID   2748608.
10. Putkey JA, Kleerekoper Q, Gaertner TR, Waxham MN (2004). "A new role for IQ motif proteins in regulating calmodulin function". J. Biol. Chem. 278 (50): 49667–70. doi: 10.1074/jbc.C300372200 . PMID   14551202.
11. Kleerekoper QK, Putkey JA (2009). "PEP-19, an intrinsically disordered regulator of calmodulin signaling". J. Biol. Chem. 284 (12): 7455–64. doi: 10.1074/jbc.M808067200 . PMC   2658041 . PMID   19106096.

Further reading

• Hubert RS, Korenberg JR (1997). "PCP4 maps between D21S345 and P31P10SP6 on chromosome 21q22.2→q22.3". Cytogenet. Cell Genet. 78 (1): 44–5. doi:10.1159/000134623. PMID   9345904.
• Utal AK, Stopka AL, Roy M, Coleman PD (1998). "PEP-19 immunohistochemistry defines the basal ganglia and associated structures in the adult human brain, and is dramatically reduced in Huntington's disease". Neuroscience. 86 (4): 1055–63. doi: 10.1016/S0306-4522(98)00130-4 . PMID   9697113. S2CID   13251786.
• Hu YH, Warnatz HJ, Vanhecke D, Wagner F, Fiebitz A, Thamm S, Kahlem P, Lehrach H, Yaspo ML, Janitz M (2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC Genomics. 7 155. doi: 10.1186/1471-2164-7-155 . PMC   1526728 . PMID   16780588.