HIX0002597: [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial precursor (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 1).
Chromosome: 2
Position: 173420101..173489823 (69.7Kbp)
Strand: +
Number of RASVs: 5
ORF:
Full-length
Truncated
NMD
UTR
Splice-site:
GT-AG
GC-AG
AT-AC
Other
NAGNAG
AS:
AS exon
AS junction
Polymorphism:
SNP
Locus and transcript information
AS locus
RASV
Hyperlink management |
HUGO |
OMIM |
Cell type |
Tissue type |
Development stage |
Sex |
Definition |
HIT000052146 |
PDK1 |
602524 |
|
Skin, normal |
|
|
[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial precursor (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 1). |
HIT000193811 |
PDK1 |
602524 |
hepatocyte |
liver |
adult |
male |
[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial precursor (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 1). |
HIT000273751 |
PDK1 |
602524 |
|
Placenta Cot 25-normalized |
|
|
Similar to [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial precursor (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 1). |
HIT000496945 |
PDK1 |
602524 |
|
testis |
|
|
Similar to [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial precursor (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 1). |
HIT000499012 |
PDK1 |
602524 |
|
trachea |
|
|
Similar to [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial precursor (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 1). |
Other ASV
Hyperlink management |
HUGO |
OMIM |
Cell type |
Tissue type |
Development stage |
Sex |
Definition |
RefSeq
ID |
Definition |
NM_002610 |
Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA. |
Ensembl
ID |
Definition |
ENST00000282077 |
[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial Precursor (EC 2.7.11.2)(Pyruvate dehydrogenase kinase isoform 1) [Source:UniProtKB/Swiss- Prot;Acc:Q15118] |
ENST00000410055 |
[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial Precursor (EC 2.7.11.2)(Pyruvate dehydrogenase kinase isoform 1) [Source:UniProtKB/Swiss- Prot;Acc:Q15118] |
ENST00000392571 |
[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial Precursor (EC 2.7.11.2)(Pyruvate dehydrogenase kinase isoform 1) [Source:UniProtKB/Swiss- Prot;Acc:Q15118] |
ENST00000416991 |
[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial Precursor (EC 2.7.11.2)(Pyruvate dehydrogenase kinase isoform 1) [Source:UniProtKB/Swiss- Prot;Acc:Q15118] |
ENST00000431718 |
[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial Precursor (EC 2.7.11.2)(Pyruvate dehydrogenase kinase isoform 1) [Source:UniProtKB/Swiss- Prot;Acc:Q15118] |
ENST00000436490 |
[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial Precursor (EC 2.7.11.2)(Pyruvate dehydrogenase kinase isoform 1) [Source:UniProtKB/Swiss- Prot;Acc:Q15118] |
ENST00000439519 |
[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial Precursor (EC 2.7.11.2)(Pyruvate dehydrogenase kinase isoform 1) [Source:UniProtKB/Swiss- Prot;Acc:Q15118] |
ENST00000443353 |
[Pyruvate dehydrogenase [lipoamide]] kinase isozyme 1, mitochondrial Precursor (EC 2.7.11.2)(Pyruvate dehydrogenase kinase isoform 1) [Source:UniProtKB/Swiss- Prot;Acc:Q15118] |