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MT-CO1 Gene

protein-coding   GIFtS: 49
GCID: GCMTP005906

Mitochondrially Encoded Cytochrome C Oxidase I

(Previous name: cytochrome c oxidase I)
(Previous symbol: MTCO1)
  See MT-CO1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mitochondrially Encoded Cytochrome C Oxidase I1     COX12
MTCO11 2 3     Cytochrome C Oxidase Subunit I2
COI2 3     COXI3
EC 1.9.3.13 8     Cytochrome C Oxidase Polypeptide I3
Cytochrome C Oxidase I1     

External Ids:    HGNC: 74191   Entrez Gene: 45122   Ensembl: ENSG000001988047   OMIM: 5160305   UniProtKB: P003953   

Export aliases for MT-CO1 gene to outside databases

Previous GC identifers: GC00U921584 GCMTP005585


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MT-CO1 Gene:
MT-CO1 (mitochondrially encoded cytochrome c oxidase I) is a protein-coding gene. Diseases associated with MT-CO1 include pthirus pubis infestation, and alveolar echinococcosis.

UniProtKB/Swiss-Prot: COX1_HUMAN, P00395
Function: Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to
water. Subunits 1-3 form the functional core of the enzyme complex. CO I is the catalytic subunit of the enzyme.
Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit
1 to the bimetallic center formed by heme A3 and copper B

Gene Wiki entry for MT-CO1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for MT-CO1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MT-CO1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MT-CO1


Genomic Location:
Chromosome:MT   

Ensembl cytogenetic band:  MT   HGNC chromosome: mitochondria

GeneLoc information about chromosome MT         GeneLoc Exon Structure

GeneLoc location for GCMTP005906:       (about GC identifiers)

Start:
5,904 bp from pter      End:
7,445 bp from pter
Size:
1,542 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: COX1_HUMAN, P00395 (See protein sequence)
Recommended Name: Cytochrome c oxidase subunit 1  
Size: 513 amino acids; 57041 Da
Secondary accessions: Q34770

Explore the universe of human proteins at neXtProt for MT-CO1: NX_P00395

Explore proteomics data for MT-CO1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MT-CO1 (P00395) (see all 47)
     TVGGLTG  GFIFLFT  NFITTII  FLFTVGG 


    See MT-CO1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000354499  
    Reactome Protein details: P00395

    MT-CO1 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for MT-CO1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    comIV: Mitochondrial respiratory chain complex / Complex IV

    3 InterPro protein domains:
     IPR000883 Cyt_c_Oxase_su1
     IPR023615 Cyt_c_Oxase_su1_BS
     IPR023616 Cyt_c_Oxase_su1_dom

    Graphical View of Domain Structure for InterPro Entry P00395

    ProtoNet protein and cluster: P00395

    1 Blocks protein domain: IPB000883 Cytochrome c oxidase

    UniProtKB/Swiss-Prot: COX1_HUMAN, P00395
    Similarity: Belongs to the heme-copper respiratory oxidase family


    Find genes that share domains with MT-CO1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COX1_HUMAN, P00395
    Function: Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to
    water. Subunits 1-3 form the functional core of the enzyme complex. CO I is the catalytic subunit of the enzyme.
    Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit
    1 to the bimetallic center formed by heme A3 and copper B
    Catalytic activity: 4 ferrocytochrome c + O(2) + 4 H(+) = 4 ferricytochrome c + 2 H(2)O

         Enzyme Number (IUBMB): EC 1.9.3.11 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004129cytochrome-c oxidase activity ----
    GO:0005506iron ion binding ----
    GO:0005515protein binding ----
    GO:0009055electron carrier activity ----
    GO:0020037heme binding ----
         
    Find genes that share ontologies with MT-CO1           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for mt-Co1):
     cardiovascular system  cellular  growth/size/body  homeostasis/metabolism  immune system 
     muscle 

    Find genes that share phenotypes with MT-CO1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MT-CO1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MT-CO1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MT-CO1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MT-CO1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MT-CO1:
    hsa-mir-378a-5p (MIRT043967), hsa-let-7c-5p (MIRT051799), hsa-mir-92a-3p (MIRT049491), hsa-mir-146b-5p (MIRT041609), hsa-mir-744-5p (MIRT037444), hsa-mir-26a-5p (MIRT050068), hsa-let-7e-5p (MIRT051484), hsa-mir-550a-5p (MIRT037786), hsa-mir-1301-3p (MIRT035986), hsa-mir-760 (MIRT036706), hsa-mir-99b-3p (MIRT038518), hsa-mir-186-5p (MIRT044969), hsa-mir-708-5p (MIRT037747), hsa-mir-766-3p (MIRT039016), hsa-mir-149-5p (MIRT045588), hsa-let-7b-5p (MIRT051954), hsa-mir-423-5p (MIRT038031), hsa-mir-193b-3p (MIRT041193), hsa-mir-361-5p (MIRT044069), hsa-mir-23b-3p (MIRT046297), hsa-mir-615-3p (MIRT039899), hsa-mir-320a (MIRT044552), hsa-mir-92b-3p (MIRT040673), hsa-let-7a-5p (MIRT052429), hsa-mir-16-5p (MIRT051098)

    Block miRNA regulation of human, mouse, rat MT-CO1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MT-CO1
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MT-CO1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COX1_HUMAN, P00395: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane3
    nucleus2
    chloroplast1
    lysosome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane ----
    GO:0016021integral component of membrane ----
    GO:0045277respiratory chain complex IV ----

    Find genes that share ontologies with MT-CO1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MT-CO1 About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Oxidative phosphorylation0.64
    Respiratory electron transport0.81
    Parkinson's disease0.57
    Electron Transport Chain0.75
    Huntington's disease0.45
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Effects of nitric oxide
    Effects of nitric oxide
    Quercetin and Nf-kB/ AP-1 induced cell apoptosis0.00
    4Alzheimer's disease
    Alzheimer's disease0.44
    5Cardiac muscle contraction
    Cardiac muscle contraction


    Find genes that share SuperPaths with MT-CO1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for MT-CO1
        Effects of nitric oxide
    Electron Transport Chain
    Quercetin and Nf-kB/ AP-1 induced cell apoptosis

    1 Reactome Pathway for MT-CO1
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for MT-CO1) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Cardiac muscle contraction
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease

    UniProtKB/Swiss-Prot: COX1_HUMAN, P00395
    Pathway: Energy metabolism; oxidative phosphorylation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MT-CO1
    Interactions:

        Search GeneGlobe Interaction Network for MT-CO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MT-CO1 (P003951, 2, 3 ENSP000003544994) via UniProtKB, MINT, STRING, and/or I2D (see all 80)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    COX4I1P130731, 3, ENSP000002534524EBI-2117234,EBI-1056574 I2D: score=1 STRING: ENSP00000253452
    HSPD1P108092, ENSP000003400194MINT-7965841 MINT-7965791 MINT-7965826 STRING: ENSP00000340019
    CLEC4GQ6UXB43, ENSP000003275994I2D: score=2 STRING: ENSP00000327599
    COX5AP206743, ENSP000003177804I2D: score=1 STRING: ENSP00000317780
    MT-ATP6P008463, ENSP000003546324I2D: score=1 STRING: ENSP00000354632
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    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006123mitochondrial electron transport, cytochrome c to oxygen ----
    GO:0009060aerobic respiration ----
    GO:0022904respiratory electron transport chain ----
    GO:0044237cellular metabolic process ----
    GO:0044281small molecule metabolic process ----

    Find genes that share ontologies with MT-CO1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MT-CO1 (COX1)

    5 HMDB Compounds for MT-CO1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CopperCu (see all 2)7440-50-8--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    IronArmco iron (see all 19)7439-89-6--
    OxygenOxygen (see all 5)7782-44-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 DrugBank Compounds for MT-CO1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cholic Acid-- 81-25-4target--10592235
    N-Formylmethionine-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for MT-CO1 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    solium 66 10 11163447 (1), 12781383 (1), 17245015 (1), 7905720 (1) (see all 6)
    nadh 62.7 31 17918379 (2), 9684648 (1), 12615166 (1), 16025565 (1) (see all 24)
    rrna 59.3 54 9603116 (3), 18415704 (2), 15599059 (1), 18372194 (1) (see all 19)
    ribonucleic acid 17.8 3 12721215 (1), 12762840 (1), 15163090 (1)
    atp 14.9 9 12227430 (1), 16210000 (1), 20108082 (1), 18823003 (1) (see all 6)
    citrate 12.9 3 19465554 (1), 20044477 (1), 17130474 (1)
    glucose 2.45 1 17130474 (1)
    deoxyribonucleic acid 0.776 2 17245015 (1), 12762840 (1)
    oxygen 0 3 18493604 (1), 17499267 (1)
    sodium 0 5 17134587 (1), 11756511 (1)



    Find genes that share compounds with MT-CO1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000361624(uc011mfh.2)
    miRNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat MT-CO1
      QuantiFast Probe-based Assays in human, mouse, rat MT-CO1

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MT-CO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MT-CO1 Expression
    About this image

    MT-CO1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MT-CO1 Protein Expression
        Custom PCR Arrays for MT-CO1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MT-CO1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MT-CO1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia mt-Co15
    COX11
    mitochondrially encoded cytochrome c oxidase I5
    COX11
    77.93(n)1
    89.65(a)1
      MT5
    177081  COX1_345386001  NP_904330.11 
     53285 
    chicken
    (Gallus gallus)
    Aves COX11 COX1 77.19(n)
    83.53(a)
      807639  COX1_5834846  NP_006917.1 
    lizard
    (Anolis carolinensis)
    Reptilia COX16
    cytochrome c oxidase subunit I (mitochondrion)
    87(a)
    1 ↔ 1
    MT(5258-6802)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ884363.12   -- 77.81(n)    BQ884363.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.20072 Transcribed sequence with moderate similarity to protein more 75.94(n)    AI545762.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta COX11 COX1 66.6(n)
    75.05(a)
      192469  COX1_5835235  NP_008278.1 
    worm
    (Caenorhabditis elegans)
    Secernentea COX11 COX1 57.87(n)
    58.73(a)
      2565700  COX1_5834891  NP_006961.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COX1(Q0045)4
    COX11
    Subunit I of cytochrome c oxidase, which is the terminal more4
    COX11
    59.19(n)1
    58.53(a)1
      17(13818-26701)4
    8545981, 4  NP_009305.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons cox11 cox1 61.75(n)
    67.53(a)
      814620  cox1_13449404  NP_085587.1 
    rice
    (Oryza sativa)
    Liliopsida Os.235162 Transcribed sequence with weak similarity to protein more 70.69(n)    CA759861.1 


    ENSEMBL Gene Tree for MT-CO1 (if available)
    TreeFam Gene Tree for MT-CO1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MT-CO1 gene
    6 SIMAP similar genes for MT-CO1 using alignment to 1 protein entry:     COX1_HUMAN:
    CO1    COXI    cox1    coxI    COX1    COI

    Find genes that share paralogs with MT-CO1           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for MT-CO1 (see all 79)
    PGOHUM00000238520 PGOHUM00000242449 PGOHUM00000242644 PGOHUM00000242798 PGOHUM00000239309


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MT-CO1 (see all 13)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr MT posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0641544
    Colorectal cancer (CRC)4--see VAR_0641542 G D mis40--------
    VAR_0330554
    Mitochondrial complex IV deficiency (MT-C4D)4--see VAR_0330552 S F mis40--------
    VAR_0330564
    Mitochondrial complex IV deficiency (MT-C4D)4--see VAR_0330562 L I mis40--------
    VAR_0641554
    Colorectal cancer (CRC)4--see VAR_0641552 S P mis40--------
    VAR_0085704
    ----see VAR_0085702 F L mis40--------
    VAR_0083864
    ----see VAR_0083862 I T mis40--------
    VAR_0085674
    ----see VAR_0085672 F C mis40--------
    VAR_0085684
    ----see VAR_0085682 V L mis40--------
    VAR_0083854
    ----see VAR_0083852 M T mis40--------
    VAR_0085664
    ----see VAR_0085662 T A mis40--------

    HapMap Linkage Disequilibrium report for MT-CO1 (5904 - 7445 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MT-CO1: --
    Human Gene Mutation Database (HGMD): MT-CO1
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MT-CO1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 516030    OMIM disorders: --

    UniProtKB/Swiss-Prot: COX1_HUMAN, P00395
  • Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited disease resulting in acute
    or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological
    defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations
    affecting the respiratory chain complexes. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Note=MT-CO1 may play a role in the pathogenesis of acquired idiopathic sideroblastic anemia, a disease
    characterized by inadequate formation of heme and excessive accumulation of iron in mitochondria. Mitochondrial
    iron overload may be attributable to mutations of mitochondrial DNA because these can cause respiratory chain
    dysfunction, thereby impairing reduction of ferric iron to ferrous iron. The reduced form of iron is essential to
    the last step of mitochondrial heme biosynthesis
  • Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory
    chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease
    affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver
    dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and
    mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal
    death. A subset of patients manifest Leigh syndrome. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Recurrent myoglobinuria mitochondrial (RM-MT) [MIM:550500]: Recurrent myoglobinuria is characterized by
    recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain
    and weakness, and followed by excretion of myoglobin in the urine. Note=The gene represented in this entry may be
    involved in disease pathogenesis
  • Deafness, sensorineural, mitochondrial (DFNM) [MIM:500008]: A form of non-syndromic deafness with
    maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss
    involving high frequencies. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from
    the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with
    progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon
    and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene
    represented in this entry may be involved in disease pathogenesis

  • Selected diseases for MT-CO1 (see all 24):    
    About MalaCards
    pthirus pubis infestation    alveolar echinococcosis    echinococcosis    mt-co1-related hearing loss and deafness
    cysticercosis    cystic echinococcosis    burns    acquired idiopathic sideroblastic anemia
    sparganosis    colon cancer    dgke-related atypical hemolytic-uremic syndrome    nonsyndromic hearing loss and deafness, mitochondrial
    myoglobinuria, acute recurrent, autosomal recessive    colonic adenoma recurrence, reduced risk of    melas syndrome    deafness, mitochondrial, modifier of
    colon cancer, somatic    nonsyndromic hearing loss and deafness    colorectal cancer    leber hereditary optic neuropathy

    3 diseases from the University of Copenhagen DISEASES database for MT-CO1:
    Echinococcosis     Pthirus pubis infestation     Sparganosis

    Find genes that share disorders with MT-CO1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MT-CO1 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leigh syndrome 54 1 11782424 (1)
    hydatid cyst 49.8 3 10363285 (1), 19234876 (1), 20134004 (1)
    lebers hereditary optic neuropathy 35.8 1 1322638 (1)
    mitochondrial myopathies 18.1 1 15751226 (1)
    virilization 15 1 12140244 (1)
    cysts 9.62 2 19329066 (1), 10748897 (1)
    cancer 2.75 3 10381321 (2)
    necrosis 2.59 1 9109538 (1)
    tumors 1.9 6 16172211 (2), 12762840 (1), 9109538 (1), 12964965 (1) (see all 5)
    carcinoma squamous cell 0 1 15814624 (1)

    Genetic Association Database (GAD): MT-CO1

    Export disorders for MT-CO1 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)
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    PubMed articles for MT-CO1 gene, integrated from 10 sources (see all 259):
    (articles sorted by number of sources associating them with MT-CO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence and organization of the human mitochondrial genome. (PubMed id 7219534)1, 2, 3 Anderson S.... Young I.G. (Nature 1981)
    2. Increased incidence of mitochondrial cytochrome c-oxidase gene mutations in patients with myelodysplastic syndromes. (PubMed id 11849212)1, 4, 9 Reddy P.L....Raza A. (Br. J. Haematol. 2002)
    3. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. (PubMed id 17357124)1, 4 Samanich J....Morrow B.E. (Am. J. Med. Genet. A 2007)
    4. Arachidonate lipoxygenase (ALOX) and cyclooxygenase (COX) polymorphisms and colon cancer risk. (PubMed id 15308583)1, 4 Goodman J.E.... Harris C.C. (Carcinogenesis 2004)
    5. Genotyping Parkinson disease-associated mitochondrial polymorphisms. (PubMed id 15931342)1, 4 Jiang Y....Greenlee A.R. (amp 2004)
    6. Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. (PubMed id 12140182)1, 2 Varlamov D.A....Kunz W.S. (Hum. Mol. Genet. 2002)
    7. Correlation of the clinical severity of Alzheimer's disease with an aberration in mitochondrial DNA (mtDNA). (PubMed id 11345519)1, 4 Brown A.M....Blass J.P. (J. Mol. Neurosci. 2001)
    8. Sequence variation in the mitochondrial gene cytochrome c oxidase subunit I and prostate cancer in African American men. (PubMed id 19267350)1, 9 Ray A.M....Petros J.A. (Prostate 2009)
    9. A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I. (PubMed id 1322638)2, 9 Brown M.D....Wallace D.C. (Am. J. Hum. Genet. 1992)
    10. [Mutation of mitochondria cytochrome oxidase gene in patients with myelodysplastic syndrome]. (PubMed id 18718066)1, 9 Hou L....Meng W.T. (Zhongguo Shi Yan Xue Ye Xue Za Zhi 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4512 HGNC: 7419 Ensembl:ENSG00000198804 euGenes: HUgn4512 ECgene: MT-CO1 Kegg: 4512
    H-InvDB: MT-CO1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MT-CO1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MT-CO1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MT-CO1 gene:
    Search GeneIP for patents involving MT-CO1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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