Pcx pyruvate carboxylase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pcxprovided by MGI
Official Full Name: pyruvate carboxylaseprovided by MGI
Primary source: MGI:MGI:97520
See related: Ensembl:ENSMUSG00000024892 AllianceGenome:MGI:97520
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pc; Pcb
Summary: Predicted to enable anion binding activity; identical protein binding activity; and pyruvate carboxylase activity. Predicted to be involved in several processes, including carboxylic acid metabolic process; gluconeogenesis; and viral RNA genome packaging. Predicted to act upstream of or within lipid metabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in pyruvate carboxylase deficiency disease. Orthologous to human PC (pyruvate carboxylase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in mammary gland adult (RPKM 255.0), adrenal adult (RPKM 223.4) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 4.07 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (4560500..4671780)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (4510472..4621752)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Requirement of hepatic pyruvate carboxylase during fasting, high fat, and ketogenic diet.
Title: Requirement of hepatic pyruvate carboxylase during fasting, high fat, and ketogenic diet.
Pyruvate-Carboxylase-Mediated Anaplerosis Promotes Antioxidant Capacity by Sustaining TCA Cycle and Redox Metabolism in Liver.
Title: Pyruvate-Carboxylase-Mediated Anaplerosis Promotes Antioxidant Capacity by Sustaining TCA Cycle and Redox Metabolism in Liver.
the MDM2-p53-PC signalling axis links mitochondrial metabolism to insulin secretion and glucose homeostasis, and could represent a therapeutic target in diabetes.
Title: The MDM2-p53-pyruvate carboxylase signalling axis couples mitochondrial metabolism to glucose-stimulated insulin secretion in pancreatic β-cells.
These findings indicate that PC-mediated anaplerosis in early-stage NSCLC is required for tumor survival and proliferation.
Title: Pyruvate carboxylase is critical for non-small-cell lung cancer proliferation.
TR4-mediated enhancement of fatty acid synthesis in adipocytes requires increased expression of PC gene
Title: TR4 promotes fatty acid synthesis in 3T3-L1 adipocytes by activation of pyruvate carboxylase expression.
Repression of pyruvate carboxylase could be interpreted as a survival tactic of repressing anabolic pathways to support a redirection of limited carbon units to catabolism rather than storage
Title: Mild mitochondrial uncoupling does not affect mitochondrial biogenesis but downregulates pyruvate carboxylase in adipocytes: role for triglyceride content reduction.
Three GC boxes within the proximal promoter of the murine pyruvate carboxylase gene bind Sp1/Sp3
Title: Functional characterization of the proximal promoter of the murine pyruvate carboxylase gene in hepatocytes: role of multiple gc boxes.
CREB bind to -1639/-1631 cyclic AMP responsive element of mouse PC gene in vitro and in vivo, respectively.
Title: Identification of the cyclic AMP responsive element (CRE) that mediates transcriptional regulation of the pyruvate carboxylase gene in HepG2 cells.
Islet PC might play a role in the development of type 2 diabetes mellitus where reduction of PC activity might be a consequence of mild hyperglycemia and a cause for severe hyperglycemia.
Title: Reduction of islet pyruvate carboxylase activity might be related to the development of type 2 diabetes mellitus in Agouti-K mice.
Focuses on cloning of human pyruvate carboxylase but also studies pyruvate carboxylase levels in mouse preadipocyte differentiation.
Title: Molecular cloning of a cDNA for human pyruvate carboxylase. Structural relationship to other biotin-containing carboxylases and regulation of mRNA content in differentiating preadipocytes.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables biotin binding	ISO Inferred from Sequence Orthology more info
enables carboxylic acid binding	ISO Inferred from Sequence Orthology more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables ligase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables pyruvate carboxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables pyruvate carboxylase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables pyruvate carboxylase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in NADH metabolic process	ISO Inferred from Sequence Orthology more info
involved_in NADP metabolic process	ISO Inferred from Sequence Orthology more info
involved_in gluconeogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in gluconeogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gluconeogenesis	ISO Inferred from Sequence Orthology more info
involved_in glyceraldehyde-3-phosphate biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in oxaloacetate metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation by host of viral process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phospholipid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in pyruvate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in pyruvate metabolic process	ISO Inferred from Sequence Orthology more info
involved_in viral RNA genome packaging	ISO Inferred from Sequence Orthology more info
involved_in viral release from host cell	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	HDA more info	PubMed
is_active_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pyruvate carboxylase, mitochondrial

Names: pyruvate decarboxylase; pyruvic carboxylase

NP_001156418.1

EC 6.4.1.1

NP_032823.2

EC 6.4.1.1

XP_006531741.1

EC 6.4.1.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001162946.1 → NP_001156418.1 pyruvate carboxylase, mitochondrial isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA619324, AK077665, AK148328, BG087228, BY230152, BY293312

Consensus CDS

CCDS50352.1

UniProtKB/TrEMBL

E9QPD7, Q3T9S7, Q3TCQ3

Related

ENSMUSP00000063825.7, ENSMUST00000068004.13

Conserved Domains (1) summary

PRK12999
Location:34 → 1179

PRK12999; pyruvate carboxylase; Reviewed
NM_008797.3 → NP_032823.2 pyruvate carboxylase, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_032823.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AA619324, AK077665, AK148328, BG087228, BY059816, BY139237

Consensus CDS

CCDS29430.1

UniProtKB/Swiss-Prot

Q05920

UniProtKB/TrEMBL

G5E8R3

Related

ENSMUSP00000109456.3, ENSMUST00000113825.4

Conserved Domains (1) summary

PRK12999
Location:33 → 1178

PRK12999; pyruvate carboxylase; Reviewed