Pdpk1 MGI Mouse Gene Detail - MGI:1338068 - 3-phosphoinositide dependent protein kinase 1

Symbol

Pdpk1
Name

3-phosphoinositide dependent protein kinase 1
Synonyms

Pdk1, Pkb kinase

Feature Type

protein coding gene
IDs

MGI:1338068
NCBI Gene: 18607
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr17:24292654-24369898 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 12.23 cM, cytoband A3.3
Mapping Data

3 experiments

SNPs within 2kb

1302 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1338068	protein coding gene	Chr17:24292654-24370957 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0023288	protein coding gene	Chr17:23024040-23103695 (-)
A/J	MGP_AJ_G0023248	protein coding gene	Chr17:22426073-22502615 (-)
AKR/J	MGP_AKRJ_G0023215	protein coding gene	Chr17:22486132-22565326 (-)
BALB/cJ	MGP_BALBcJ_G0023253	protein coding gene	Chr17:22601879-22678773 (-)
C3H/HeJ	MGP_C3HHeJ_G0023013	protein coding gene	Chr17:22817128-22900167 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0023696	protein coding gene	Chr17:24065508-24147385 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021173	protein coding gene	Chr17:19882329-19962534 (-)
CAST/EiJ	MGP_CASTEiJ_G0022515	protein coding gene	Chr17:22661574-22743634 (-)
CBA/J	MGP_CBAJ_G0022989	protein coding gene	Chr17:24879827-24975848 (-)
DBA/2J	MGP_DBA2J_G0023118	protein coding gene	Chr17:21998373-22076852 (-)
FVB/NJ	MGP_FVBNJ_G0023088	protein coding gene	Chr17:21714339-21792452 (-)
LP/J	MGP_LPJ_G0023195	protein coding gene	Chr17:23339914-23421150 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023107	protein coding gene	Chr17:24611983-24694274 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023734	protein coding gene	Chr17:22749633-22832557 (-)
PWK/PhJ	MGP_PWKPhJ_G0022264	protein coding gene	Chr17:20751938-20833778 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0022083	protein coding gene	Chr17:20772158-20852066 (-)
WSB/EiJ	MGP_WSBEiJ_G0022578	protein coding gene	Chr17:22811982-22892200 (-)

Human Ortholog

PDPK1, 3-phosphoinositide dependent protein kinase 1

Vertebrate Orthologs

5

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PDPK1, 3-phosphoinositide dependent protein kinase 1
Synonyms

PDK1, PDPK2, PDPK2P, PRO0461
Links

HGNC:8816

NCBI Gene ID: 5170

neXtProt AC: NX_O15530

UniProt: O15530, Q6A1A2
Chr Location

16p13.3; chr16:2537979-2603188 (+) GRCh38

Human Ortholog

PDPK2P, 3-phosphoinositide dependent protein kinase 2, pseudogene
Links

HGNC:49897

NCBI Gene ID: 653650
Chr Location

16p13.3; chr16:2616453-2642490 (-) GRCh38

MGI Vertebrate Homology

Pdpk1 stringent orthology
2 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PDPK1, PDPK2P
Gene Tree

Pdpk1

Diseases

1 with human PDPK1 associations

				Human Disease	Mouse Models
				prostate cancer IDs prostate cancer DOID:10283 DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 ORDO:1331 UMLS_CUI:C0033578 UMLS_CUI:C0376358

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

101 phenotypes from 10 alleles in 11 genetic backgrounds
43 phenotypes from multigenic genotypes
117 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

173
Endonuclease-mediated

1
Gene trapped

157
Targeted

15
Genomic Mutations

2 involving Pdpk1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

138 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutant mice exhibit embryogenesis defects, impaired forebrain development, and die by mid gestation. Cardiac muscle-specific conditional mutants exhibit thin ventricular walls and die of heart failure.

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All GO Annotations

77
GO References

26

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

855
Tissues

82
cDNA Data

138
Literature Summary

25

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pdpk1

ZFIN pdpk1a, pdpk1b

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All Sequences

102
RefSeq

22
UniProt

12
CCDS

CCDS28474.1, CCDS37483.1, CCDS70767.1

Ensembl

ENSMUSG00000024122 (Evidence)
NCBI Gene

18607

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024122	Ensembl Gene Model \| MGI Sequence Detail	77245	C57BL/6J	± kb
transcript	ENSMUST00000102927	Ensembl \| MGI Sequence Detail	7161	Not Applicable
polypeptide	ENSMUSP00000099991	Ensembl \| MGI Sequence Detail	559	Not Applicable

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UniProt

12 Sequences
Protein Ontology

PR:000012515 3-phosphoinositide-dependent protein kinase 1

(term hierarchy)
EC

2.7.11.1
InterPro Domains

IPR033931 PDK1-type, PH domain

IPR039046 PDPK1 family

IPR011993 PH-like domain superfamily

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR008271 Serine/threonine-protein kinase, active site

IPR050236 Serine/threonine-protein kinases, AGC
GlyGen

Q9Z2A0 1 site, 1 O-linked glycan (1 site)

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All nucleic 140

cDNA 139

Primer pair 1

Microarray probesets 5

Summaries

All 203

Developmental Gene Expression 25

Gene Ontology 26

Phenotypes 117
Earliest

J:53564 Dong LQ, et al., Primary structure, tissue distribution, and expression of mouse phosphoinositide-dependent protein kinase-1, a protein kinase that phosphorylates and activates protein kinase Czeta. J Biol Chem. 1999 Mar 19;274(12):8117-22
Latest

J:346253 Li C, et al., Deficiency of Pdk1 drives heart failure by impairing taurine homeostasis through Slc6a6. FASEB J. 2023 Sep;37(9):e23134

TSS for Pdpk1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr146699	Chr17:24369916-24369924 (-)	-22 bp
Tssr146698	Chr17:24369884-24369902 (-)	5 bp
Tssr146697	Chr17:24369860-24369881 (-)	27 bp
Tssr146696	Chr17:24369840-24369855 (-)	50 bp
Tssr146695	Chr17:24360516-24360565 (-)	9,357 bp
Tssr146694	Chr17:24317063-24317068 (-)	52,832 bp
Tssr146693	Chr17:24316088-24316098 (-)	53,805 bp
Tssr146692	Chr17:24297826-24297848 (-)	72,061 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)
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