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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MPC1 Gene

protein-coding   GIFtS: 48
GCID: GC06M166778

mitochondrial pyruvate carrier 1

(Previous name: brain protein 44-like )
(Previous symbol: BRP44L)
 Explore 1 disease affiliated with
MPC1 via our new
 Human Malady Compendium 
Biological research products
for MPC1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Mitochondrial Pyruvate Carrier 11 2     CGI-1291
BRP44L1 2 3     Brain Protein 44-Like1
DJ68L15.31     MPYCD2
Brain Protein 44-Like Protein2 3     HSPC040 Protein2

External Ids:    HGNC: 216061   Entrez Gene: 516602   Ensembl: ENSG000000607627   OMIM: 6147385   UniProtKB: Q9Y5U83   

Export aliases for MPC1 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MPC1:
The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into
mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of
mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein
coding, have been found for this gene. (provided by RefSeq, Aug 2012)

UniProtKB/Swiss-Prot: MPC1_HUMAN, Q9Y5U8
Function: Mediates the uptake of pyruvate into mitochondria




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MPC1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MPC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q27   Ensembl cytogenetic band:  6q27   HGNC cytogenetic band: 6q27

MPC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPC1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M166778:  view genomic region     (about GC identifiers)

Start:
166,778,407 bp from pter      End:
166,796,486 bp from pter
Size:
18,080 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MPC1_HUMAN, Q9Y5U8 (See protein sequence)
Recommended Name: Mitochondrial pyruvate carrier 1  
Size: 109 amino acids; 12347 Da
Subunit: The functional 150 kDa pyruvate import complex is a heteromer of MPC1 and MPC2 (By similarity)
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAG23822.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2R5I7 Q5TI66 Q9HB67 Q9UQN4

Explore the universe of human proteins at neXtProt for MPC1: NX_Q9Y5U8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y5U8

  • MPC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001257808.1  NP_057182.1  

    ENSEMBL proteins: 
     ENSP00000354223   ENSP00000340784  
    Reactome Protein details: Q9Y5U8
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    Uscn Proteins for MPC1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral to membrane IEA--


    MPC1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MPC1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005336 UPF0041

    Graphical View of Domain Structure for InterPro Entry Q9Y5U8

    ProtoNet protein and cluster: Q9Y5U8

    1 Blocks protein family: IPB005336 Protein of unknown function UPF0041

    UniProtKB/Swiss-Prot: MPC1_HUMAN, Q9Y5U8
    Similarity: Belongs to the mitochondrial pyruvate carrier (MPC) family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: MPC1_HUMAN, Q9Y5U8
    Function: Mediates the uptake of pyruvate into mitochondria

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0050833pyruvate transmembrane transporter activity IEA--


    MPC1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for MPC1:
     Decreased TP53 protein express 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Pyruvate metabolism
    Pyruvate metabolism1.00
    2Metabolism
    Metabolism1.00
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72
    4TCA Cycle
    Pyruvate metabolism and Citric Acid (TCA) cycle0.64
    5Glycolysis and gluconeogenesis (short map)
    Glycolysis and Gluconeogenesis0.60

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for MPC1 
        Glycolysis and Gluconeogenesis

    4        Reactome Pathways for MPC1
        Pyruvate metabolism
    Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    The citric acid (TCA) cycle and respiratory electron transport



    MPC1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MPC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/40 Interacting proteins for MPC1 (Q9Y5U83 ENSP000003542234) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006090pyruvate metabolic process IEA--
    GO:0006810transport ----
    GO:0006850mitochondrial pyruvate transport IEA--
    GO:0008150biological_process ND--


    MPC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MPC1
    Search CenterWatch for drugs/clinical trials and news about MPC1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MPC1 gene (2 alternative transcripts): 
    NM_001270879.1  NM_016098.3  

    Unigene Cluster for MPC1:

    Mitochondrial pyruvate carrier 1
    Hs.172755  [show with all ESTs]
    Unigene Representative Sequence: AK310934
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360961(uc021zif.1 uc010kkj.1) ENST00000487218 ENST00000366868
    ENST00000475708 ENST00000341756(uc021zie.1)

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    Inhib. RNA
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    Additional cDNA sequence: 

    AF125101.1 AF151887.1 AF275811.1 AK310934.1 AK312201.1 BC000810.1 NR_073093.1 

    14 DOTS entries:

    DT.418923  DT.107481  DT.418924  DT.86855307  DT.95281129  DT.100818074  DT.91661935  DT.95281124 
    DT.100646424  DT.40123211  DT.40292740  DT.95281130  DT.100674744  DT.99975114 

    24/259 AceView cDNA sequences (see all 259):

    AA575996 AI089504 CA306897 BM455901 AA922792 AA001725 AI339584 CR618688 
    BM842280 N74406 CR621401 CR591621 BM788167 AA459690 AI075801 H93543 
    BF939457 R95919 CD677586 BM714366 AI862316 N34211 BE044116 BM997133 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MPC1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
    SP1:        -     -                                       
    SP2:                                                      
    SP3:              -                                       
    SP4:                          -                           


    ECgene alternative splicing isoforms for MPC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section
    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    See MPC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MPC1

    SOURCE GeneReport for Unigene cluster: Hs.172755
        SABiosciences Custom PCR Arrays for MPC1
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    In Situ
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    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for MPC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MPC1 gene from 9/33 species (see all 33)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpc11 , 5 brain protein 44-like5
    mitochondrial pyruvate carrier 11
    89.91(n)1
    94.5(a)1
      17 (4.92 cM)5
    559511  NM_018819.41  NP_061289.11 
     82829045 
    chicken
    (Gallus gallus)
    Aves BRP44L1 brain protein 44-like 81.27(n)
    92.38(a)
      428592  NM_001031524.1  NP_001026695.1 
    lizard
    (Anolis carolinensis)
    Reptilia BRP44L6
    --
    92(a)
    1 ↔ 1
    1(225901800-225909172)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.60552 Transcribed sequence with moderate similarity to protein more 76.38(n)    AL882085.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:927071 zgc:92707 73.97(n)
    84.76(a)
      436671  NM_001002398.2  NP_001002398.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG142901 CG14290 63.54(n)
    66.67(a)
      42268  NM_142505.1  NP_650762.1 
    worm
    (Caenorhabditis elegans)
    Secernentea R07E5.131 Protein R07E5.13 56.7(n)
    56.7(a)
      259500  NM_065493.1  NP_497894.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G200906
    uncharacterized protein
    43(a)
    1 ↔ 1
    5(6787002-6788654)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    UPF0041 domain containing protein, putative, expre...
    UPF0041 domain containing protein, putative, expre...
    45(a)
    45(a)
    many → 1
    many → 1
    8(19733006-19736518)
    9(12442360-12444865)


    ENSEMBL Gene Tree for MPC1 (if available)
    TreeFam Gene Tree for MPC1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MPC1 gene
    3 SIMAP similar genes for MPC1 using alignment to 2 protein entries:     MPC1_HUMAN (see all proteins):
    BRP44L    MPC1L    MPC2

    MPC1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MPC1
    PGOHUM00000241717


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/310 NCBI SNPs in MPC1 are shown (see all 310    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1133585021,2
    C--164249390(+) TTTATA/C/TGCCAT 6 -- nc-transcript-variantut311CSA 1
    rs1118637431,2
    --164249456(+) AAACAG/CTGGGG 3 -- nc-transcript-variantut311Minor allele frequency- C:0.50CSA 2
    rs753046161,2
    F,--164249992(+) TTACAT/AAACAT 3 -- int11Minor allele frequency- A:0.07WA 118
    rs787130911,2
    --164250100(+) CGGAAT/CAACTG 3 -- int11Minor allele frequency- C:0.01WA 118
    rs132197951,2
    A,H--164251082(+) TCTTGT/CTTCTT 3 -- int14Minor allele frequency- C:0.00NS EA 418
    rs69133531,2
    C,F,H,--164251439(+) CTCGTG/AAGAAC 3 -- int1 ut5112Minor allele frequency- A:0.13NS EA NA WA 1314
    rs168988961,2
    C,F,H,--164251679(+) ACAATC/TCATTG 3 -- int112Minor allele frequency- T:0.10NA NS EA WA 1448
    rs37996741,2
    C,F,H,--164251909(-) GGGGTC/TCTGGG 3 -- int15Minor allele frequency- T:0.01NS EA 530
    rs770140811,2
    F,--164252124(+) TTAAAG/TATGAA 3 -- int11Minor allele frequency- T:0.06WA 118
    rs790978751,2
    --164252651(+) TAGACG/AAGGTG 3 -- int11Minor allele frequency- A:0.01NA 120

    HapMap Linkage Disequilibrium report for MPC1 (166778407 - 166796486 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MPC1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MPC1
    DNA2.0 Custom Variant and Variant Library Synthesis for MPC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MPC1 for disorders           About GeneDecksing

    OMIM gene information: 614738    OMIM disorders: --

    UniProtKB/Swiss-Prot: MPC1_HUMAN, Q9Y5U8
  • Defects in MPC1 are the cause of 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 disease for MPC1:    About MalaCards
    malaria


    Export disorders for MPC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MPC1 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with MPC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, drosophila, and humans. (PubMed id 22628558)1, 2, 3 Bricker D.K.... Rutter J. (2012)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.H....Lin W. (2000)
    4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
    5. Synteny of orthologous genes conserved in mammals, snake, fly, nematode, and fission yeast. (PubMed id 11252172)1, 9 Trachtulec Z. and Forejt J. (2001)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    9. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1 Wheeler H.E....Kim S.K. (2009)
    10. Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. (PubMed id 17672918)1 Szafranski K....Platzer M. (2007)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51660 HGNC: 21606 AceView: BRP44L Ensembl:ENSG00000060762 euGenes: HUgn51660
    ECgene: MPC1 H-InvDB: MPC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MPC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for MPC1 gene:
    Search GeneIP for patents involving MPC1

    GeneCards and IP:
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