PCP4 Purkinje cell protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PCP4provided by HGNC
Official Full Name: Purkinje cell protein 4provided by HGNC
Primary source: HGNC:HGNC:8742
See related: Ensembl:ENSG00000183036 MIM:601629; AllianceGenome:HGNC:8742
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PEP-19
Summary: Enables calcium ion binding activity and calmodulin binding activity. Involved in positive regulation of CAMKK-AMPK signaling cascade and positive regulation of neuron differentiation. Located in cytosol and nucleus. Part of protein-containing complex. Biomarker of Huntington's disease and leiomyoma. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in prostate (RPKM 108.8), urinary bladder (RPKM 73.3) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (39867438..39929392)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (38251577..38313599)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (41239364..41301317)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PCP4 Promotes Alzheimer's Disease Pathogenesis by Affecting Amyloid-beta Protein Precursor Processing.
Title: PCP4 Promotes Alzheimer's Disease Pathogenesis by Affecting Amyloid-β Protein Precursor Processing.
Circ_0019693 promotes osteogenic differentiation of bone marrow mesenchymal stem cell and enhances osteogenesis-coupled angiogenesis via regulating microRNA-942-5p-targeted purkinje cell protein 4 in the development of osteoporosis.
Title: Circ_0019693 promotes osteogenic differentiation of bone marrow mesenchymal stem cell and enhances osteogenesis-coupled angiogenesis via regulating microRNA-942-5p-targeted purkinje cell protein 4 in the development of osteoporosis.
PCP4/PEP19 downregulates neurite outgrowth via transcriptional regulation of Ascl1 and NeuroD1 expression in human neuroblastoma M17 cells.
Title: PCP4/PEP19 downregulates neurite outgrowth via transcriptional regulation of Ascl1 and NeuroD1 expression in human neuroblastoma M17 cells.
Compared to other CaM regulatory proteins, PCP4/PEP-19 transcripts were more abundant in human myometrium. The expression of PCP4/PEP-19 was lowest in myometrium of women with preterm pregnancy and chorioamnionitis.
Title: Expression, Regulation, and Function of the Calmodulin Accessory Protein PCP4/PEP-19 in Myometrium.
PCP4 promoter was one of the most hypomethylated in aldosterone-producing adenoma and PCP4 transcription may be associated with demethylation as well as with CEBPA in APAs.
Title: Purkinje Cell Protein 4 Expression Is Associated With DNA Methylation Status in Aldosterone-Producing Adenoma.
PCP4/PEP19 has a role in promoting migration, invasion and adhesion in human breast cancer cells
Title: PCP4/PEP19 promotes migration, invasion and adhesion in human breast cancer MCF-7 and T47D cells.
Data indicated that PCP4/PEP19 regulates apoptosis but exact mechanism is still unknown.
Title: Anti-apoptotic effects of PCP4/PEP19 in human breast cancer cell lines: a novel oncotarget.
PCP4 protein is highly expressed in the olfactory bulb and caudate putamen and PCP4 expressing cells in the brain are of neuronal origin.
Title: Distribution of PCP4 protein in the forebrain of adult mice.
PCP4 is a regulator of aldosterone production in normal, hyperplastic, and neoplastic human adrenocortical cells.
Title: PCP4: a regulator of aldosterone synthesis in human adrenocortical tissues.
This study demonstrate that Pcp4 overexpression extended these effects later in development by modulating genes in line with the maturation of neurons in the cerebellum.
Title: Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: implications for Down syndrome.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-18172 (e-PCR)
- UniSTS:24067

WI-14954 (e-PCR)
- UniSTS:42760

Pcp4 (e-PCR), detects polymorphism
- UniSTS:461898

SHGC-52046 (e-PCR)
- UniSTS:23903

SHGC-31654 (e-PCR)
- UniSTS:29853

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of CAMKK-AMPK signaling cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	HDA more info	PubMed
located_in nucleus	HDA more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: calmodulin regulator protein PCP4

Names: brain specific polypeptide PEP19; brain-specific antigen PCP-4; brain-specific polypeptide PEP-19

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.