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Q9Y5U8

- MPC1_HUMAN

UniProt

Q9Y5U8 - MPC1_HUMAN

Protein

Mitochondrial pyruvate carrier 1

Gene

MPC1

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

    Mediates the uptake of pyruvate into mitochondria.1 Publication

    GO - Molecular functioni

    1. pyruvate transmembrane transporter activity Source: Ensembl

    GO - Biological processi

    1. cellular metabolic process Source: Reactome
    2. mitochondrial pyruvate transport Source: Ensembl
    3. pyruvate metabolic process Source: Reactome
    4. small molecule metabolic process Source: Reactome

    Keywords - Biological processi

    Transport

    Enzyme and pathway databases

    ReactomeiREACT_2071. 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
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21606. MPC1.

    Subcellular locationi

    Mitochondrion inner membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial inner membrane Source: UniProtKB-SubCell
    3. mitochondrion Source: HPA

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Mitochondrial pyruvate carrier deficiency (MPYCD) [MIM:614741]: An 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti79 – 791L → H in MPYCD. 1 Publication
    VAR_068099
    Natural varianti97 – 971R → W in MPYCD; inactive. 1 Publication
    VAR_068100

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614741. phenotype.
    PharmGKBiPA134940737.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 109108Mitochondrial pyruvate carrier 1PRO_0000212797Add
    BLAST

    Amino acid modifications

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

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9Y5U8.
    PaxDbiQ9Y5U8.
    PRIDEiQ9Y5U8.

    PTM databases

    PhosphoSiteiQ9Y5U8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9Y5U8.
    BgeeiQ9Y5U8.
    CleanExiHS_BRP44L.
    GenevestigatoriQ9Y5U8.

    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. 2 interactions.
    IntActiQ9Y5U8. 3 interactions.
    STRINGi9606.ENSP00000354223.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y5U8.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

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

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG288673.
    HOGENOMiHOG000188911.
    HOVERGENiHBG050728.
    OMAiTTASKEW.
    OrthoDBiEOG7DVDF6.
    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

    MAGALVRKAA DYVRSKDFRD YLMSTHFWGP VANWGLPIAA INDMKKSPEI    50
    ISGRMTFALC CYSLTFMRFA YKVQPRNWLL FACHATNEVA QLIQGGRLIK 100
    HEMTKTASA 109
    Length:109
    Mass (Da):12,347
    Last modified:November 1, 1999 - v1
    Checksum:iE33344CD1AA29124
    GO

    Sequence cautioni

    The sequence AAG23822.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    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
    VAR_068099
    Natural varianti97 – 971R → W in MPYCD; inactive. 1 Publication
    VAR_068100

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UCSCiuc021zif.2. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS5293.1.
    RefSeqi NP_057182.1. NM_016098.3.
    UniGenei Hs.172755.

    3D structure databases

    ProteinModelPortali Q9Y5U8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119665. 2 interactions.
    IntActi Q9Y5U8. 3 interactions.
    STRINGi 9606.ENSP00000354223.

    Protein family/group databases

    TCDBi 2.A.105.1.2. the mitochondrial pyruvate carrier (mpc) family.

    PTM databases

    PhosphoSitei Q9Y5U8.

    Proteomic databases

    MaxQBi Q9Y5U8.
    PaxDbi Q9Y5U8.
    PRIDEi Q9Y5U8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000360961 ; ENSP00000354223 ; ENSG00000060762 .
    GeneIDi 51660.
    KEGGi hsa:51660.
    UCSCi uc021zif.2. human.

    Organism-specific databases

    CTDi 51660.
    GeneCardsi GC06M166778.
    HGNCi HGNC:21606. MPC1.
    HPAi HPA045119.
    HPA055790.
    MIMi 614738. gene.
    614741. phenotype.
    neXtProti NX_Q9Y5U8.
    PharmGKBi PA134940737.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG288673.
    HOGENOMi HOG000188911.
    HOVERGENi HBG050728.
    OMAi TTASKEW.
    OrthoDBi EOG7DVDF6.
    PhylomeDBi Q9Y5U8.
    TreeFami TF314444.

    Enzyme and pathway databases

    Reactomei REACT_2071. Pyruvate metabolism.

    Miscellaneous databases

    ChiTaRSi BRP44L. human.
    GenomeRNAii 51660.
    NextBioi 55638.
    PROi Q9Y5U8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y5U8.
    Bgeei Q9Y5U8.
    CleanExi HS_BRP44L.
    Genevestigatori Q9Y5U8.

    Family and domain databases

    InterProi IPR005336. MPC.
    [Graphical view ]
    Pfami PF03650. MPC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
      Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
      , Gu J., Chen S.-J., Chen Z.
      Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Umbilical cord blood.
    2. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
      Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
      Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Skeletal muscle.
    4. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    6. "Human acute promyelocytic leukemia cell line NB4's apoptosis related genes."
      Yu W.-Q., Chai Y.-B., Sun B.-Z., Zhu F., Liu X.-S., Li Z., Lu F., Yan W., Yang H., Zhao Z.-L.
      Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 53-109.
      Tissue: Promyelocytic leukemia.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS MPYCD HIS-79 AND TRP-97.

    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: October 1, 2014
    This is version 102 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

    External Data

    Dasty 3