Format

Send to:

Choose Destination

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

Gene ID: 5121, updated on 22-Aug-2020

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

Genomic context

See PCP4 in Genome Data Viewer
Location:
21q22.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (39867438..39929392)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (41239347..41301322)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985499 Neighboring gene immunoglobulin superfamily member 5 Neighboring gene uncharacterized LOC107985500 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

Associated conditions

Description Tests
Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calmodulin binding IDA
Inferred from Direct Assay
more info
PubMed 
calmodulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
calmodulin dependent kinase signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol HDA PubMed 
nucleus HDA PubMed 
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)

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
    Related
    ENSP00000329403.5, ENST00000328619.10

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

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