Description
pyruvate dehydrogenase (lipoamide) alpha 1 [Source:HGNC Symbol;Acc:8806]
Gene Synonyms
PDHA, PDHCE1A, PHE1A
Location
Chromosome X: 19,362,011-19,379,823 forward strand.
GRCh37:CM000685.1
About this gene
This gene has 13 transcripts (splice variants), 3 paralogues and is associated with 9 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000379806.5 | PDHA1-201 | 3484 | 428aa | ENSP00000369134.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55380 | A5YPB6 P08559 Q5JPU1 Q5JPU3 Q6LCA3 Q9UNV7 | NM_001173454.1 | 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, |
| ENST00000545074.1 | PDHA1-203 | 3391 | 397aa | ENSP00000438550.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55381 | A5YPB6 P08559 Q5JPT9 Q5JPU3 Q6LCA3 Q9UNV7 | NM_001173455.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000422285.2 | PDHA1-004 | 3310 | 390aa | ENSP00000394382.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS14192 | A5YPB6 P08559 Q5JPU3 Q6LCA3 Q9UNV7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000540249.1 | PDHA1-202 | 3277 | 359aa | ENSP00000440761.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55382 | P08559 Q5JPU3 Q6LCA3 Q9UNV7 | NM_001173456.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000379805.3 | PDHA1-001 | 734 | 180aa | ENSP00000369133.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JPU0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000423505.1 | PDHA1-009 | 731 | 205aa | ENSP00000406473.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JPU1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000379804.1 | PDHA1-002 | 709 | 109aa | ENSP00000369132.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JPU3 Q6LCA3 Q9UNV7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000355808.5 | PDHA1-008 | 699 | 203aa | ENSP00000348062.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JPT9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000417819.1 | PDHA1-010 | 471 | 121aa | ENSP00000404616.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JPU2 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000478795.1 | PDHA1-006 | 791 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000492364.1 | PDHA1-007 | 611 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000479146.1 | PDHA1-003 | 535 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000481733.1 | PDHA1-005 | 437 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - |
