Pcx MGI Mouse Gene Detail - MGI:97520

Symbol

Pcx
Name

pyruvate carboxylase
Synonyms

Pc

Feature Type

protein coding gene
IDs

MGI:97520
NCBI Gene: 18563
Alliance

gene page
Transcription Start Sites

19 TSS

Sequence Map

Chr19:4560500-4671780 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 4.07 cM
Mapping Data

5 experiments

SNPs within 2kb

2525 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97520	protein coding gene	Chr19:4560500-4671780 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024666	protein coding gene	Chr19:1387417-1508940 (+)
A/J	MGP_AJ_G0024632	protein coding gene	Chr19:1318278-1431991 (+)
AKR/J	MGP_AKRJ_G0024605	protein coding gene	Chr19:1358242-1473830 (+)
BALB/cJ	MGP_BALBcJ_G0024632	protein coding gene	Chr19:1314811-1427288 (+)
C3H/HeJ	MGP_C3HHeJ_G0024400	protein coding gene	Chr19:1363289-1480817 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025080	protein coding gene	Chr19:1436894-1561183 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022509	protein coding gene	Chr19:1258615-1367817 (+)
CAST/EiJ	MGP_CASTEiJ_G0023872	protein coding gene	Chr19:1371013-1490953 (+)
CBA/J	MGP_CBAJ_G0024371	protein coding gene	Chr19:1512966-1628353 (+)
DBA/2J	MGP_DBA2J_G0024499	protein coding gene	Chr19:1281024-1396000 (+)
FVB/NJ	MGP_FVBNJ_G0024466	protein coding gene	Chr19:1308757-1422153 (+)
LP/J	MGP_LPJ_G0024585	protein coding gene	Chr19:1401329-1517586 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024496	protein coding gene	Chr19:1426130-1542323 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025127	protein coding gene	Chr19:1360596-1472501 (+)
PWK/PhJ	MGP_PWKPhJ_G0023618	protein coding gene	Chr19:1338233-1454293 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023423	protein coding gene	Chr19:1349621-1464672 (+)
WSB/EiJ	MGP_WSBEiJ_G0023934	protein coding gene	Chr19:1350669-1468139 (+)

Human Ortholog

PC, pyruvate carboxylase

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PC, pyruvate carboxylase
Synonyms

PCB
Links

HGNC:8636

NCBI Gene ID: 5091

neXtProt AC: NX_P11498

UniProt: P11498
Chr Location

11q13.2; chr11:66848417-66958386 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: PC
Protein SuperFamily

Pyruv_carbox
Gene Tree

Pcx

Diseases

1 with human PC associations

				Human Disease	Mouse Models
				pyruvate carboxylase deficiency disease IDs pyruvate carboxylase deficiency disease DOID:3651 ICD10CM:E74.4 MESH:D015324 NCI:C85040 OMIM:266150 UMLS_CUI:C0034341

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

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Phenotype Summary

26 phenotypes from 2 alleles in 3 genetic backgrounds
17 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

16
Endonuclease-mediated

3
Gene trapped

9
Targeted

4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

54 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

36
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

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

990
Tissues

149
cDNA Data

124
Literature Summary

12

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pc.2

ZFIN pcxb

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All Sequences

76
RefSeq

6
UniProt

11
CCDS

CCDS29430.1, CCDS50352.1

Ensembl

ENSMUSG00000024892 (Evidence)
NCBI Gene

18563

			Length	Strain/Species	Flank
genomic	18563	NCBI Gene Model \| MGI Sequence Detail	111281	C57BL/6J	± kb
transcript	NM_001162946	RefSeq \| MGI Sequence Detail	4148	ZRU/MplStud
polypeptide	Q05920	UniProt \| EBI \| MGI Sequence Detail	1178	Not Applicable

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UniProt

11 Sequences
Protein Ontology

PR:000012331 pyruvate carboxylase, mitochondrial

(term hierarchy)
EC

6.4.1.1
InterPro Domains

IPR013785 Aldolase-type TIM barrel

IPR011761 ATP-grasp fold

IPR001882 Biotin-binding site

IPR005482 Biotin carboxylase, C-terminal

IPR005481 Biotin carboxylase-like, N-terminal domain

IPR011764 Biotin carboxylation domain

IPR000089 Biotin/lipoyl attachment

IPR005479 Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain

IPR003379 Carboxylase, conserved domain

IPR016185 Pre-ATP-grasp domain superfamily

IPR005930 Pyruvate carboxylase

IPR000891 Pyruvate carboxyltransferase

IPR011054 Rudiment single hybrid motif

IPR011053 Single hybrid motif
GlyGen

Q05920 1 site, 1 O-linked glycan (1 site)

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All nucleic 129

cDNA 124

Primer pair 4

Other 1

Microarray probesets 6

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MGD-MRK-13166, MGD-MRK-13201

Summaries

All 74

Developmental Gene Expression 12

Gene Ontology 15

Phenotypes 17
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 Pcx:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr154319	Chr19:4560508-4560515 (+)	12 bp
Tssr154320	Chr19:4560526-4560536 (+)	31 bp
Tssr154321	Chr19:4560538-4560560 (+)	49 bp
Tssr154322	Chr19:4560564-4560580 (+)	72 bp
Tssr154323	Chr19:4567809-4567839 (+)	7,324 bp
Tssr154324	Chr19:4608035-4608039 (+)	47,537 bp
Tssr154325	Chr19:4608836-4608844 (+)	48,340 bp
Tssr154326	Chr19:4644340-4644360 (+)	83,850 bp
Tssr154327	Chr19:4644365-4644389 (+)	83,877 bp
Tssr154328	Chr19:4644391-4644422 (+)	83,907 bp
Tssr154329	Chr19:4644426-4644450 (+)	83,938 bp
Tssr5407	Chr19:4651693-4651709 (+)	91,201 bp
Tssr154330	Chr19:4653102-4653107 (+)	92,605 bp
Tssr154331	Chr19:4653118-4653130 (+)	92,624 bp
Tssr154332	Chr19:4653154-4653173 (+)	92,664 bp
Tssr154333	Chr19:4654561-4654569 (+)	94,065 bp
Tssr154334	Chr19:4659948-4659968 (+)	99,458 bp
Tssr154335	Chr19:4668460-4668477 (+)	107,969 bp
Tssr154336	Chr19:4671163-4671176 (+)	110,670 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 12/10/2024 MGI 6.24