Gene: PKP1 ENSG00000081277

Description

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

Gene Synonyms

B6P

Location

GRCh37:CM000663.1

About this gene

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

Transcripts

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	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		-	-	-

Summary