PCP4

Protein-coding gene in the species Homo sapiens
PCP4
Identifiers
AliasesPCP4, PEP-19, Purkinje cell protein 4
External IDsOMIM: 601629; MGI: 97509; HomoloGene: 4519; GeneCards: PCP4; OMA:PCP4 - orthologs
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for PCP4
Genomic location for PCP4
Band21q22.2Start39,867,438 bp[1]
End39,929,397 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for PCP4
Genomic location for PCP4
Band16 C4|16 56.97 cMStart96,268,806 bp[2]
End96,326,993 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 16: 96.27 – 96.33 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000183036 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b c d 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.