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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. PKP1, plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
Sequence ID:NM_000299
NM_001005337
RefSeqGene ID:NG_023337
Entrez Gene ID:5317
Ensembl ID:ENSG00000081277

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME 

Cytogenetic Location (from UniGene)

Cytogenetic Location:1q32Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:1: 201299523 - 201302115

 Exon Info From UCSC:
NM_000299
NM_001005337

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
40082609Full LengthBC114571plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000290  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000299 NP_000290 Q13835 Arm
NM_001005337 NP_001005337    

Related Sequences

 
mRNAGenPeptSwissProt
BC114571 AAI14572 Q13835
BC115702 AAI15703 Q14BN3
AK299473 BAG61437 B4DRX5
AK316131 BAH14502 B4DRX5
X79293 CAA55881 Q13835
Z34974 CAA84426 Q13835

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens PKP1 NP_001005337 M.musculus Pkp1 18772 Gene Info NP_062619 95
R.norvegicus Pkp1 304822   NP_001100651 95

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)