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Gene: PKP1 (plakophilin 1) Homo sapiens
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Symbol: PKP1
Name: plakophilin 1
Description: Exhibits lamin binding activity. Involved in intermediate filament bundle assembly and negative regulation of mRNA catabolic process. Localizes to messenger ribonucleoprotein complex; nucleoplasm; and plasma membrane. Implicated in ectodermal dysplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B6P; band 6 protein; EDSFS; MGC138829; plakophilin-1
Orthologs:
Mus musculus (house mouse) : Pkp1 (plakophilin 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pkp1 (plakophilin 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pkp1 (plakophilin 1)
Pan paniscus (bonobo/pygmy chimpanzee) : PKP1 (plakophilin 1)
Canis lupus familiaris (dog) : PKP1 (plakophilin 1 (ectodermal dysplasia/skin fragility syndrome))
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pkp1 (plakophilin 1)
Sus scrofa (pig) : PKP1 (plakophilin 1)
Chlorocebus sabaeus (African green monkey) : PKP1 (plakophilin 1)
Heterocephalus glaber (naked mole-rat) : Pkp1 (plakophilin 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1201,283,452 - 201,332,993 (+)EnsemblGRCh38hg38GRCh38
GRCh381201,283,452 - 201,332,993 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371201,252,580 - 201,302,121 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361199,519,203 - 199,568,740 (+)NCBINCBI36hg18NCBI36
Celera1174,376,403 - 174,425,974 (+)NCBI
Cytogenetic Map1q32.1NCBI
HuRef1172,418,808 - 172,468,387 (+)NCBIHuRef
CHM1_11202,674,744 - 202,724,331 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on PKP1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1316687
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.