Pdk1 MGI Mouse Gene Detail - MGI:1926119 - pyruvate dehydrogenase kinase, isoenzyme 1

Symbol

Pdk1
Name

pyruvate dehydrogenase kinase, isoenzyme 1
Synonyms

D530020C15Rik

Feature Type

protein coding gene
IDs

MGI:1926119
NCBI Gene: 228026
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr2:71703568-71734202 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 42.84 cM
Mapping Data

1 experiment

SNPs within 2kb

988 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1926119	protein coding gene	Chr2:71703398-71734202 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025827	protein coding gene	Chr2:72038422-72068840 (+)
A/J	MGP_AJ_G0025805	protein coding gene	Chr2:69208094-69239058 (+)
AKR/J	MGP_AKRJ_G0025773	protein coding gene	Chr2:71123593-71154784 (+)
BALB/cJ	MGP_BALBcJ_G0025799	protein coding gene	Chr2:69412245-69444301 (+)
C3H/HeJ	MGP_C3HHeJ_G0025559	protein coding gene	Chr2:71323433-71354491 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026246	protein coding gene	Chr2:74210602-74242854 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023649	protein coding gene	Chr2:66431060-66462878 (+)
CAST/EiJ	MGP_CASTEiJ_G0025023	protein coding gene	Chr2:71526792-71559202 (+)
CBA/J	MGP_CBAJ_G0025540	protein coding gene	Chr2:76922681-76960408 (+)
DBA/2J	MGP_DBA2J_G0025671	protein coding gene	Chr2:68841872-68873836 (+)
FVB/NJ	MGP_FVBNJ_G0025633	protein coding gene	Chr2:68249514-68280864 (+)
LP/J	MGP_LPJ_G0025759	protein coding gene	Chr2:71920073-71951023 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025664	protein coding gene	Chr2:78908937-78940114 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026303	protein coding gene	Chr2:71215211-71246025 (+)
PWK/PhJ	MGP_PWKPhJ_G0024764	protein coding gene	Chr2:68723946-68755265 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024572	protein coding gene	Chr2:71404308-71435211 (+)
WSB/EiJ	MGP_WSBEiJ_G0025091	protein coding gene	Chr2:71653947-71687539 (+)

Human Ortholog

PDK1, pyruvate dehydrogenase kinase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PDK1, pyruvate dehydrogenase kinase 1
Links

HGNC:8809

NCBI Gene ID: 5163

neXtProt AC: NX_Q15118

UniProt: Q15118
Chr Location

2q31.1; chr2:172555373-172724312 (+) GRCh38

MGI Vertebrate Homology

Pdk1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PDK1
Gene Tree

Pdk1

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Phenotype Summary

5 phenotypes from 3 alleles in 3 genetic backgrounds
8 phenotypes from multigenic genotypes
31 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

36
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

19
Targeted

12
Genomic Mutations

7 involving Pdk1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit normal skeletal development, are viable, and exhibit normal fertility. Mice lacking all 4 Pdk family members exhibit disrupted energy metabolic balance.

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All GO Annotations

30
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

964
Tissues

151
cDNA Data

143
Literature Summary

21

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pdk1

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All Sequences

60
RefSeq

11
UniProt

3
CCDS

CCDS16119.1

Ensembl

ENSMUSG00000006494 (Evidence)
NCBI Gene

228026

			Length	Strain/Species	Flank
genomic	ENSMUSG00000006494	Ensembl Gene Model \| MGI Sequence Detail	30635	C57BL/6J	± kb
transcript	ENSMUST00000006669	Ensembl \| MGI Sequence Detail	5185	Not Applicable
polypeptide	ENSMUSP00000006669	Ensembl \| MGI Sequence Detail	434	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000012504 [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial

(term hierarchy)
EC

2.7.11.-, 2.7.11.2
InterPro Domains

IPR036784 Alpha-ketoacid/pyruvate dehydrogenase kinase, N-terminal domain superfamily

IPR018955 Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal

IPR005467 Histidine kinase domain

IPR003594 Histidine kinase/HSP90-like ATPase

IPR036890 Histidine kinase/HSP90-like ATPase superfamily

IPR039028 PDK/BCKDK protein kinase
GlyGen

Q8BFP9 1 site, 1 O-linked glycan (1 site)

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All nucleic 147

cDNA 143

Primer pair 4

Microarray probesets 5

Summaries

All 103

Developmental Gene Expression 21

Gene Ontology 10

Phenotypes 31
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Pdk1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr18296	Chr2:71703602-71703607 (+)	37 bp
Tssr18297	Chr2:71703610-71703616 (+)	45 bp
Tssr18298	Chr2:71703622-71703670 (+)	78 bp
Tssr520	Chr2:71703689-71703690 (+)	122 bp
Tssr18299	Chr2:71703690-71703693 (+)	124 bp
Tssr18300	Chr2:71703709-71703718 (+)	146 bp
Tssr18301	Chr2:71705425-71705434 (+)	1,862 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/05/2024 MGI 6.24