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

Gene ID: 5121, updated on 4-Jan-2025

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, Jan 2025]
Expression
Biased expression in prostate (RPKM 108.8), urinary bladder (RPKM 73.3) and 6 other tissues See more
Orthologs
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Genomic context

See PCP4 in Genome Data Viewer
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_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985499 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:41150548-41151747 Neighboring gene uncharacterized LOC107985500 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:41184118-41184339 Neighboring gene immunoglobulin superfamily member 5 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:41217248-41218447 Neighboring gene NANOG hESC enhancer GRCh37_chr21:41223988-41224489 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:41241262-41241415 Neighboring gene meiotic recombination hotspot PCP4-1 Neighboring gene meiotic recombination hotspot PCP4-2 Neighboring gene MPRA-validated peak4411 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:41400415-41400914 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:41436401-41436568 Neighboring gene NANOG hESC enhancer GRCh37_chr21:41474546-41475047 Neighboring gene DS cell adhesion molecule Neighboring gene microRNA 4760 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:41709903-41711102 Neighboring gene DSCAM antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding  
enables calcium ion binding PubMed 
enables calmodulin binding  
enables calmodulin binding PubMed 
enables calmodulin binding PubMed 
enables protein binding PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytosol PubMed 
located_in nucleus PubMed 
part_of protein-containing complex PubMed 

General protein information

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.

mRNA and Protein(s)

  1. NM_006198.3NP_006189.2  calmodulin regulator protein PCP4

    See identical proteins and their annotated locations for NP_006189.2

    Status: VALIDATED

    Source sequence(s)
    BQ287895, U52969
    Consensus CDS
    CCDS33563.1
    UniProtKB/Swiss-Prot
    A6NDJ9, P48539, Q6ICS4, Q93059
    Related
    ENSP00000329403.5, ENST00000328619.10

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    39867438..39929392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791814.1 Reference GRCh38.p14 PATCHES

    Range
    3435..65389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    38251577..38313599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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