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Protein

Mitochondrial pyruvate carrier 1

Gene

MPC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Mediates the uptake of pyruvate into mitochondria.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

ReactomeiR-HSA-70268. Pyruvate metabolism.

Protein family/group databases

TCDBi2.A.105.1.2. the mitochondrial pyruvate carrier (mpc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial pyruvate carrier 1
Alternative name(s):
Brain protein 44-like protein
Gene namesi
Name:MPC1
Synonyms:BRP44L
ORF Names:CGI-129, HSPC040, PNAS-115
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21606. MPC1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei21 – 4121HelicalSequence analysisAdd
BLAST
Transmembranei53 – 7119HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial pyruvate carrier deficiency (MPYCD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy.
See also OMIM:614741
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti79 – 791L → H in MPYCD. 1 Publication
Corresponds to variant rs387907238 [ dbSNP | Ensembl ].
VAR_068099
Natural varianti97 – 971R → W in MPYCD; inactive. 1 Publication
Corresponds to variant rs387907237 [ dbSNP | Ensembl ].
VAR_068100

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiMPC1.
MIMi614741. phenotype.
PharmGKBiPA134940737.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 109108Mitochondrial pyruvate carrier 1PRO_0000212797Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources
Modified residuei72 – 721N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9Y5U8.
MaxQBiQ9Y5U8.
PaxDbiQ9Y5U8.
PeptideAtlasiQ9Y5U8.
PRIDEiQ9Y5U8.
TopDownProteomicsiQ9Y5U8.

PTM databases

PhosphoSiteiQ9Y5U8.

Expressioni

Gene expression databases

BgeeiENSG00000060762.
CleanExiHS_BRP44L.
ExpressionAtlasiQ9Y5U8. baseline and differential.
GenevisibleiQ9Y5U8. HS.

Organism-specific databases

HPAiHPA045119.
HPA055790.

Interactioni

Subunit structurei

The functional 150 kDa pyruvate import complex is a heteromer of MPC1 and MPC2.By similarity

Protein-protein interaction databases

BioGridi119665. 1 interaction.
IntActiQ9Y5U8. 3 interactions.
STRINGi9606.ENSP00000354223.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5U8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1590. Eukaryota.
ENOG4111TU9. LUCA.
GeneTreeiENSGT00510000046988.
HOGENOMiHOG000188911.
HOVERGENiHBG050728.
InParanoidiQ9Y5U8.
OMAiCHFANET.
PhylomeDBiQ9Y5U8.
TreeFamiTF314444.

Family and domain databases

InterProiIPR005336. MPC.
[Graphical view]
PfamiPF03650. MPC. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9Y5U8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAGALVRKAA DYVRSKDFRD YLMSTHFWGP VANWGLPIAA INDMKKSPEI
60 70 80 90 100
ISGRMTFALC CYSLTFMRFA YKVQPRNWLL FACHATNEVA QLIQGGRLIK

HEMTKTASA
Length:109
Mass (Da):12,347
Last modified:November 1, 1999 - v1
Checksum:iE33344CD1AA29124
GO

Sequence cautioni

The sequence AAG23822 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti14 – 141R → Q in AAD34124 (PubMed:10810093).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti36 – 361L → I.
Corresponds to variant rs11557064 [ dbSNP | Ensembl ].
VAR_052486
Natural varianti79 – 791L → H in MPYCD. 1 Publication
Corresponds to variant rs387907238 [ dbSNP | Ensembl ].
VAR_068099
Natural varianti97 – 971R → W in MPYCD; inactive. 1 Publication
Corresponds to variant rs387907237 [ dbSNP | Ensembl ].
VAR_068100

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF125101 mRNA. Translation: AAD39918.1.
AF151887 mRNA. Translation: AAD34124.1.
AK312201 mRNA. Translation: BAG35134.1.
AL022069 Genomic DNA. Translation: CAI19654.1.
BC000810 mRNA. Translation: AAH00810.1.
AF275811 mRNA. Translation: AAG23822.1. Different initiation.
CCDSiCCDS5293.1.
RefSeqiNP_057182.1. NM_016098.3.
UniGeneiHs.172755.

Genome annotation databases

EnsembliENST00000360961; ENSP00000354223; ENSG00000060762.
GeneIDi51660.
KEGGihsa:51660.
UCSCiuc063svb.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF125101 mRNA. Translation: AAD39918.1.
AF151887 mRNA. Translation: AAD34124.1.
AK312201 mRNA. Translation: BAG35134.1.
AL022069 Genomic DNA. Translation: CAI19654.1.
BC000810 mRNA. Translation: AAH00810.1.
AF275811 mRNA. Translation: AAG23822.1. Different initiation.
CCDSiCCDS5293.1.
RefSeqiNP_057182.1. NM_016098.3.
UniGeneiHs.172755.

3D structure databases

ProteinModelPortaliQ9Y5U8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119665. 1 interaction.
IntActiQ9Y5U8. 3 interactions.
STRINGi9606.ENSP00000354223.

Protein family/group databases

TCDBi2.A.105.1.2. the mitochondrial pyruvate carrier (mpc) family.

PTM databases

PhosphoSiteiQ9Y5U8.

Proteomic databases

EPDiQ9Y5U8.
MaxQBiQ9Y5U8.
PaxDbiQ9Y5U8.
PeptideAtlasiQ9Y5U8.
PRIDEiQ9Y5U8.
TopDownProteomicsiQ9Y5U8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360961; ENSP00000354223; ENSG00000060762.
GeneIDi51660.
KEGGihsa:51660.
UCSCiuc063svb.1. human.

Organism-specific databases

CTDi51660.
GeneCardsiMPC1.
HGNCiHGNC:21606. MPC1.
HPAiHPA045119.
HPA055790.
MalaCardsiMPC1.
MIMi614738. gene.
614741. phenotype.
neXtProtiNX_Q9Y5U8.
PharmGKBiPA134940737.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1590. Eukaryota.
ENOG4111TU9. LUCA.
GeneTreeiENSGT00510000046988.
HOGENOMiHOG000188911.
HOVERGENiHBG050728.
InParanoidiQ9Y5U8.
OMAiCHFANET.
PhylomeDBiQ9Y5U8.
TreeFamiTF314444.

Enzyme and pathway databases

ReactomeiR-HSA-70268. Pyruvate metabolism.

Miscellaneous databases

GenomeRNAii51660.
PROiQ9Y5U8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000060762.
CleanExiHS_BRP44L.
ExpressionAtlasiQ9Y5U8. baseline and differential.
GenevisibleiQ9Y5U8. HS.

Family and domain databases

InterProiIPR005336. MPC.
[Graphical view]
PfamiPF03650. MPC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMPC1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5U8
Secondary accession number(s): B2R5I7
, Q5TI66, Q9HB67, Q9UQN4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: November 1, 1999
Last modified: September 7, 2016
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.