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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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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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