Description
branched chain ketoacid dehydrogenase kinase [Source:HGNC Symbol;Acc:16902]
Gene Synonyms
BCKDKD, BDK
Location
Chromosome 16: 31,117,428-31,124,110 forward strand.
GRCh37:CM000678.1
About this gene
This gene has 10 transcripts (splice variants), 4 paralogues and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000394951.1 | BCKDK-004 | 2164 | 412aa | ENSP00000378405.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10705 | A8MY43 H3BNP3 H3BQP2 O14874 | - | 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, |
| ENST00000219794.6 | BCKDK-001 | 2126 | 412aa | ENSP00000219794.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10705 | A8MY43 H3BNP3 H3BQP2 O14874 | NM_005881.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000394950.3 | BCKDK-002 | 1997 | 365aa | ENSP00000378404.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS45467 | A8MY43 H3BNP3 H3BQP2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000287507.3 | BCKDK-003 | 1907 | 335aa | ENSP00000287507.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS61917 | H3BNP3 H3BQP2 Q96G95 | NM_001271926.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000484226.2 | BCKDK-010 | 754 | 216aa | ENSP00000457226.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BNP3 H3BQP2 H3BTL2 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000561755.1 | BCKDK-007 | 640 | 60aa | ENSP00000455866.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BQP2 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000567676.1 | BCKDK-008 | 554 | 88aa | ENSP00000454947.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BNP3 H3BQP2 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000567682.1 | BCKDK-009 | 439 | 146aa | ENSP00000457821.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000567530.1 | BCKDK-006 | 1796 | 217aa | ENSP00000456479.1 | Nonsense mediated decay | H3BNP3 H3BQP2 H3BS02 | - | - | |
| ENST00000566568.1 | BCKDK-005 | 2558 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
