Gene: PKP1 ENSG00000081277

Description

plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) [Source:HGNC Symbol;Acc:9023]

Gene Synonyms

B6P

Location

Chromosome 1: 201,252,580-201,302,121 forward strand.

GRCh37:CM000663.1

About this gene

This gene has 5 transcripts (splice variants), 6 paralogues and is associated with 3 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000263946.3	PKP1-201	5447	747aa	ENSP00000263946.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS30966	B4DRX5 Q13835	NM_000299.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000367324.3	PKP1-001	5384	726aa	ENSP00000356293.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS30967	B4DRX5 Q13835 Q14BN3	NM_001005337.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000352845.3	PKP1-004	2244	747aa	ENSP00000295597.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS30966	B4DRX5 Q13835	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000475988.1	PKP1-002	931	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000477817.1	PKP1-003	631	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Gene: PKP1 ENSG00000081277

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Gene: PKP1 ENSG00000081277

Summary