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 | - | 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 | - | - | - |
