U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 5121, updated on 5-Aug-2022

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 calmodulin dependent kinase signaling pathway 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, Apr 2022]
Expression
Biased expression in prostate (RPKM 108.8), urinary bladder (RPKM 73.3) and 6 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PCP4 in Genome Data Viewer
Location:
21q22.2
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (39867438..39929392)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (38251577..38313599)
105.20220307 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 uncharacterized LOC107985500 Neighboring gene immunoglobulin superfamily member 5 Neighboring gene meiotic recombination hotspot PCP4-1 Neighboring gene meiotic recombination hotspot PCP4-2 Neighboring gene DS cell adhesion molecule Neighboring gene microRNA 4760 Neighboring gene DSCAM antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

NEW Try the new Transcript table

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
    P48539, Q93059
    Related
    ENSP00000329403.5, ENST00000328619.10

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)