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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: PPT1 ENSG00000131238

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Description

palmitoyl-protein thioesterase 1 [Source:HGNC Symbol;Acc:9325]

Gene Synonyms

CLN1, INCL, PPT

Location

Chromosome 1: 40,538,379-40,563,375 reverse strand.

GRCh37:CM000663.1

About this gene

This gene has 10 transcripts (splice variants), 2 paralogues and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000433473.3	PPT1-001	2740	306aa	ENSP00000394863.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS447	E9PP28 E9PSE5 P50897	NM_000310.3	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000449045.2	PPT1-006	849	203aa	ENSP00000392293.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS44119	E9PSE5 P50897	NM_001142604.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000372779.4	PPT1-002	827	271aa	ENSP00000361865.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PMG2 E9PP28	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000439754.1	PPT1-003	659	177aa	ENSP00000403207.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5T0S4	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000527311.2	PPT1-011	623	204aa	ENSP00000436695.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PIA8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000526547.1	PPT1-012	565	98aa	ENSP00000436481.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PP28	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000530076.1	PPT1-013	550	87aa	ENSP00000434007.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PSE5	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000529905.1	PPT1-009	1836	306aa	ENSP00000432053.1	Nonsense mediated decay	CCDS447	E9PP28 E9PSE5 P50897	-	-
ENST00000530704.1	PPT1-007	1314	148aa	ENSP00000431655.1	Nonsense mediated decay		E9PK48	-	-
ENST00000372775.2	PPT1-004	563	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Summary

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