Mitochondrial pyruvate carrier 1

MPC1
Identifiers
Gene ontology
Molecular function	pyruvate transmembrane transporter activity; molecular function;
Cellular component	integral component of membrane; mitochondrial inner membrane; membrane; mitochondrion; integral component of mitochondrial inner membrane; cellular component;
Biological process	mitochondrial acetyl-CoA biosynthetic process from pyruvate; mitochondrial pyruvate transmembrane transport; cellular response to leukemia inhibitory factor; biological process;
	Sources:Amigo / QuickGO

Ensembl


ENSG00000060762


ENSMUSG00000023861

UniProt


Q9Y5U8


P63030

RefSeq (mRNA)


NM_001270879 NM_016098


NM_018819 NM_001364918 NM_001364919

RefSeq (protein)

NP_001257808 NP_057182 NP_001363494 NP_001363495 NP_001363496
NP_001363497 NP_001363498


NP_061289 NP_001351847 NP_001351848

Location (UCSC)

Chr 6: 166.36 – 166.38 Mb

Chr 17: 8.5 – 8.52 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Mitochondrial pyruvate carrier 1 (MPC1), also known as brain protein 44-like (BRP44L) and SLC54A1, is a

pyruvate dehydrogenase reaction

.

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.^{[§ 1]}

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|alt=Glycolysis and Gluconeogenesis edit]]

Glycolysis and Gluconeogenesis edit

^ The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".

Clinical significance

Mitochondrial pyruvate carrier deficiency (MPYCD) is an autosomal recessive disease due to mutations in the MPC1 gene on chromosome 6q27. It is an inborn error of carbohydrate metabolism that blocks aerobic glycolysis by preventing the transport of pyruvate from the cytosol into the mitochondrion for oxidative phosphorylation; however, anaerobic glycolysis is preserved. Common signs and symptoms include poor growth, normal lactate/pyruvate ratio (however both lactate and pyruvate are in higher than normal concentrations), hepatomegaly, lactic acidosis, hypoglycemia, neurological problems, and hypotonia.^[6] A disease with comparable symptoms is also seen in autosomal recessive mutations of the MPC2 gene.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000060762 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000023861 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "HGNC data for MPC1". HUGO Gene Nomenclature Committee. Retrieved 2023-08-21.
^ "Mitochondrial pyruvate carrier 1; MPC1". Online Mendelian Inheritance in Man (OMIM). Retrieved 2023-08-21.
PMID 36417180
.

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders
Including glycogen storage diseases (GSD)
Sucrose, transport
(extracellular)
Disaccharide catabolism

Congenital alactasia

Sucrose intolerance

Monosaccharide transport

Glucose-galactose malabsorption

Inborn errors of renal tubular transport (Renal glycosuria)

Fructose malabsorption

De Vivo Disease (GLUT1 deficiency)

Fanconi-Bickel syndrome
(GLUT2 deficiency)

Hexose → glucose
Monosaccharide catabolism
Fructose:

Essential fructosuria

Fructose intolerance

Galactose / galactosemia:

GALK deficiency

GALT deficiency/GALE deficiency

Glucose ⇄ glycogen
Glycogenesis

GSD type 0 (glycogen synthase deficiency)

GSD type IV (Andersen's disease, branching enzyme deficiency)

Adult polyglucosan body disease (APBD)

Lafora disease

GSD type XV (glycogenin deficiency)

Glycogenolysis
Extralysosomal:

GSD type III (Cori's disease, debranching enzyme deficiency)

GSD type VI (Hers' disease, liver glycogen phosphorylase deficiency)

GSD type V (McArdle's disease, myophosphorylase deficiency)

GSD type IX (phosphorylase kinase deficiency)

Phosphoglucomutase deficiency (PGM1-CDG, CDG1T, formerly GSD-XIV)

Lysosomal (LSD):

Glycogen storage disease type II (Pompe's disease, glucosidase deficiency, formerly GSD-IIa)

Danon disease (LAMP2 deficiency, formerly GSD-IIb)

Glucose ⇄ CAC
Glycolysis

MODY 2/HHF3

GSD type VII (Tarui's disease, phosphofructokinase deficiency)

Triosephosphate isomerase deficiency

Pyruvate kinase deficiency

Aldolase A deficiency

Phosphoglucose isomerase deficiency

Phosphoglycerate kinase deficiency

Mitochondrial pyruvate carrier deficiency
(MPC1 deficiency)

Gluconeogenesis

Pyruvate carboxylase deficiency

Fructose bisphosphatase deficiency

GSD type I (von Gierke's disease, glucose 6-phosphatase deficiency)

Pentose phosphate pathway

Glucose-6-phosphate dehydrogenase deficiency

Transaldolase deficiency

SDDHD (Transketolase deficiency)

6-phosphogluconate dehydrogenase deficiency

Other

Hyperoxaluria
Primary hyperoxaluria

Pentosuria

Fatal congenital nonlysosomal cardiac glycogenosis (AMP-activated protein kinase deficiency, PRKAG2)

v
t
e
Genetic disorder, membrane: Solute carrier disorders
1-10

SLC1A3

Episodic ataxia 6

SLC2A1
De Vivo disease

SLC2A2
Fanconi-Bickel syndrome

SLC2A5
Fructose malabsorption

SLC2A10
Arterial tortuosity syndrome

SLC3A1

Cystinuria

SLC4A1

Hereditary spherocytosis 4/Hereditary elliptocytosis 4

SLC4A11

Congenital endothelial dystrophy type 2

Fuchs' dystrophy 4

SLC5A1

Glucose-galactose malabsorption

SLC5A2

Renal glycosuria

SLC5A5

Thyroid dyshormonogenesis type 1

SLC6A19

Hartnup disease

SLC7A7

Lysinuric protein intolerance

SLC7A9

Cystinuria

11-20

SLC11A1

Crohn's disease

SLC12A3
Gitelman syndrome

SLC16A1

HHF7

SLC16A2

Allan–Herndon–Dudley syndrome

SLC17A3
Von Gierke's disease
, GSD-Ic

SLC17A5

Salla disease

SLC17A8

DFNA25

21-40

SLC26A2

Multiple epiphyseal dysplasia 4

Achondrogenesis type 1B

Recessive multiple epiphyseal dysplasia

Atelosteogenesis, type II

Diastrophic dysplasia

SLC26A4
Pendred syndrome

SLC35C1

CDOG 2C

SLC37A4

Von Gierke's disease
, GSD-Ib

SLC39A4

Acrodermatitis enteropathica

SLC40A1
African iron overload

51-60

Mitochondrial pyruvate carrier deficiency
)

see also solute carrier family

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.
v
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Retrieved from "https://en.wikipedia.org/w/index.php?title=Mitochondrial_pyruvate_carrier_1&oldid=1188156179"

[WikiPathways-6] The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000060762 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000023861 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] "HGNC data for MPC1". HUGO Gene Nomenclature Committee. Retrieved 2023-08-21.

[7] "Mitochondrial pyruvate carrier 1; MPC1". Online Mendelian Inheritance in Man (OMIM). Retrieved 2023-08-21.

[8] PMID 36417180
.

[3]

[4]

[§ 1]

[6]

[7]

Interactive pathway map

Clinical significance

See also

References