Pck1 MGI Mouse Gene Detail - MGI:97501 - phosphoenolpyruvate carboxykinase 1, cytosolic

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Pck1 Gene Detail

Symbol

Pck1
Name

phosphoenolpyruvate carboxykinase 1, cytosolic
Synonyms

Pck-1, PEPCK

Feature Type

protein coding gene
IDs

MGI:97501
NCBI Gene: 18534
Alliance

gene page
Transcription Start Sites

30 TSS

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Sequence Map

Chr2:172994866-173001067 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 95.79 cM, cytoband C1-qter
Mapping Data

28 experiments

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SNPs within 2kb

252 from dbSNP Build 142
Strain Annotations

18
PCR

1
RFLP

5

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_97501	protein coding gene	Chr2:172994841-173001067 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026954	protein coding gene	Chr2:179405004-179412615 (+)
A/J	MGP_AJ_G0026921	protein coding gene	Chr2:171862873-171869054 (+)
AKR/J	MGP_AKRJ_G0026892	protein coding gene	Chr2:177048572-177054801 (+)
BALB/cJ	MGP_BALBcJ_G0026930	protein coding gene	Chr2:172263121-172269413 (+)
C3H/HeJ	MGP_C3HHeJ_G0026672	protein coding gene	Chr2:177439568-177445793 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027377	protein coding gene	Chr2:184574656-184580749 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024747	protein coding gene	Chr2:165099072-165105322 (+)
CAST/EiJ	MGP_CASTEiJ_G0026130	protein coding gene	Chr2:178125184-178131163 (+)
CBA/J	MGP_CBAJ_G0026649	protein coding gene	Chr2:191477213-191483416 (+)
DBA/2J	MGP_DBA2J_G0026787	protein coding gene	Chr2:170958817-170965042 (+)
FVB/NJ	MGP_FVBNJ_G0026753	protein coding gene	Chr2:169576177-169583003 (+)
LP/J	MGP_LPJ_G0026888	protein coding gene	Chr2:179341781-179347975 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026772	protein coding gene	Chr2:194408269-194414524 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027434	protein coding gene	Chr2:177060436-177067002 (+)
PWK/PhJ	MGP_PWKPhJ_G0025867	protein coding gene	Chr2:170752482-170758735 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025667	protein coding gene	Chr2:176062419-176068518 (+)
WSB/EiJ	MGP_WSBEiJ_G0026203	protein coding gene	Chr2:178015624-178021830 (+)

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Human Ortholog

PCK1, phosphoenolpyruvate carboxykinase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PCK1, phosphoenolpyruvate carboxykinase 1
Synonyms

PCKDC, PEPCK1, PEPCK-C, PEPCKC
Links

HGNC:8724

NCBI Gene ID: 5105

neXtProt AC: NX_P35558

UniProt: P35558
Chr Location

20q13.31; chr20:57561080-57568121 (+) GRCh38

MGI Vertebrate Homology

Pck1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PCK1
Protein SuperFamily

PEP_carboxykinase_GTP
Gene Tree

Pck1

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Diseases

2 with human PCK1 associations

				Human Disease	Mouse Models
				Alzheimer's disease IDs Alzheimer's disease DOID:10652 ICD10CM:G30 ICD9CM:331.0 KEGG:05010 MESH:D000544 NCI:C2866 UMLS_CUI:C0002395
				type 2 diabetes mellitus IDs type 2 diabetes mellitus DOID:9352 ICD10CM:E11 KEGG:04930 MESH:D003924 NCI:C26747 OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036 UMLS_CUI:C0011860

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

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Phenotype Summary

41 phenotypes from 5 alleles in 3 genetic backgrounds
27 phenotype references

Phenotype Overview

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

12
Endonuclease-mediated

3
Targeted

9
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

47 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit early postnatal lethality, decreased body fat, decreased glycogen levels in the liver, and altered blood chemistry.

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All GO Annotations

94
GO References

15

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

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

875
Tissues

109
cDNA Data

351
Literature Summary

40

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pck1

ZFIN pck1

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All Sequences

46
RefSeq

2
UniProt

3
CCDS

CCDS17141.1

Ensembl

ENSMUSG00000027513 (Evidence)
NCBI Gene

18534

Representative Sequences				Length	Strain/Species	Flank
	genomic	18534	NCBI Gene Model \| MGI Sequence Detail	6202	C57BL/6J	± kb
	transcript	NM_011044	RefSeq \| MGI Sequence Detail	2637	ZRU/MplStud
	polypeptide	Q9Z2V4	UniProt \| EBI \| MGI Sequence Detail	622	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000012416 phosphoenolpyruvate carboxykinase, cytosolic [GTP]

(term hierarchy)
EC

2.7.11.-, 4.1.1.32
InterPro Domains

IPR013035 Phosphoenolpyruvate carboxykinase, C-terminal

IPR035077 Phosphoenolpyruvate carboxykinase, C-terminal P-loop domain

IPR008209 Phosphoenolpyruvate carboxykinase, GTP-utilising

IPR018091 Phosphoenolpyruvate carboxykinase, GTP-utilising, conserved site

IPR035078 Phosphoenolpyruvate carboxykinase, GTP-utilising, N-terminal

IPR008210 Phosphoenolpyruvate carboxykinase, N-terminal
GlyGen

Q9Z2V4 1 site, 1 O-linked glycan (1 site)

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All nucleic 372

Genomic 2

cDNA 355

Primer pair 11

Other 4

Microarray probesets 4

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MGD-MRK-13174, MGD-MRK-13175, MGI:2138871

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Summaries

All 163

Developmental Gene Expression 40

Gene Ontology 15

Phenotypes 27
Earliest

J:15656 Freytag SO, et al., Molecular cloning of a cDNA for human pyruvate carboxylase. Structural relationship to other biotin-containing carboxylases and regulation of mRNA content in differentiating preadipocytes. J Biol Chem. 1984 Oct 25;259(20):12831-7
Latest

J:346743 Deja S, et al., Hepatic malonyl-CoA synthesis restrains gluconeogenesis by suppressing fat oxidation, pyruvate carboxylation, and amino acid availability. Cell Metab. 2024 Mar 1;

TSS for Pck1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr22018	Chr2:172994853-172994873 (+)	-3 bp
Tssr22019	Chr2:172996524-172996541 (+)	1,667 bp
Tssr22020	Chr2:172996554-172996580 (+)	1,701 bp
Tssr22021	Chr2:172997733-172997745 (+)	2,873 bp
Tssr22022	Chr2:172997753-172997763 (+)	2,892 bp
Tssr22023	Chr2:172997853-172997864 (+)	2,993 bp
Tssr22024	Chr2:172997888-172997901 (+)	3,029 bp
Tssr22025	Chr2:172997931-172997955 (+)	3,077 bp
Tssr22026	Chr2:172997997-172998014 (+)	3,140 bp
Tssr22027	Chr2:172998045-172998054 (+)	3,184 bp
Tssr22028	Chr2:172998069-172998084 (+)	3,211 bp
Tssr22029	Chr2:172998097-172998105 (+)	3,235 bp
Tssr22030	Chr2:172998111-172998121 (+)	3,250 bp
Tssr22031	Chr2:172998123-172998152 (+)	3,272 bp
Tssr22032	Chr2:172998156-172998167 (+)	3,296 bp
Tssr22033	Chr2:172998169-172998180 (+)	3,309 bp
Tssr22034	Chr2:172998184-172998193 (+)	3,323 bp
Tssr22035	Chr2:172998231-172998242 (+)	3,371 bp
Tssr22036	Chr2:172998874-172998888 (+)	4,015 bp
Tssr22037	Chr2:172999782-172999798 (+)	4,924 bp
Tssr22038	Chr2:173000152-173000168 (+)	5,294 bp
Tssr22039	Chr2:173000202-173000224 (+)	5,347 bp
Tssr22040	Chr2:173000277-173000288 (+)	5,417 bp
Tssr22041	Chr2:173000447-173000460 (+)	5,588 bp
Tssr22042	Chr2:173000532-173000543 (+)	5,672 bp
Tssr22043	Chr2:173000565-173000574 (+)	5,704 bp
Tssr22044	Chr2:173000617-173000630 (+)	5,758 bp
Tssr22045	Chr2:173000663-173000681 (+)	5,806 bp
Tssr22046	Chr2:173000812-173000836 (+)	5,958 bp
Tssr22047	Chr2:173000993-173000998 (+)	6,130 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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