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
| 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, 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 | - | - | - |
