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GIFtS

MT-CO1 Gene

protein-coding   GIFtS: 46
GCID: GCMTP005906

mitochondrially encoded cytochrome c oxidase I

(Previous name: cytochrome c oxidase I )
(Previous symbol: MTCO1)
 Explore 56 diseases affiliated with
MT-CO1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MT-CO1    

Aliases
for MT-CO1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Mitochondrially Encoded Cytochrome C Oxidase I1     Cytochrome C Oxidase I1
COI1 2 3     Cytochrome C Oxidase Subunit I2
MTCO11 2 3     COXI3
COX11 2     Cytochrome C Oxidase Polypeptide I3
EC 1.9.3.13 8     

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


Summaries
for MT-CO1 gene

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
 Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MT-CO1
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:  view genomic region     (about GC identifiers)

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

Proteins
for MT-CO1 gene

(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: COX1_HUMAN, P00395 (See protein sequence)
Recommended Name: Cytochrome c oxidase subunit 1  
Size: 513 amino acids; 57041 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Secondary accessions: Q34770

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P00395

    • 4/47 DME Specific Peptides for MT-CO1 (P00395) (see all 47)
     TVGGLTG  GFIFLFT  NFITTII  FLFTVGG 

    MT-CO1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).


    ENSEMBL proteins: 
     ENSP00000354499  
    Reactome Protein details: P00395
    Human Recombinant Protein Products: 
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    Uscn Proteins for MT-CO1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0070469respiratory chain IEA--


    MT-CO1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MT-CO1

    Protein Domains /
    Families
    for MT-CO1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MT-CO1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB000883 Cytochrome c oxidase

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


    Function
    for MT-CO1 gene

    (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: 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

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for MT-CO1

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004129cytochrome-c oxidase activity NAS--
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI12762840
    GO:0009055electron carrier activity IEA--
    GO:0020037heme binding IEA--


    MT-CO1 for ontologies           About GeneDecksing


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

    MT-CO1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MT-CO1 gene

    (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
    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.1.00
    		Oxidative phosphorylation0.63
    		Respiratory electron transport0.81
    		Parkinson's disease0.61
    		Electron Transport Chain0.76
    		Alzheimer's disease0.43
    		The citric acid (TCA) cycle and respiratory electron transport0.72
    		Huntington's disease0.40
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Cardiac muscle contraction
    		Cardiac muscle contraction1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for MT-CO1 
        Electron Transport Chain

    4        Reactome Pathways for MT-CO1
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport


    5/6         Kegg Pathways  (Kegg details for MT-CO1) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Cardiac muscle contraction
    Alzheimer's disease
    Parkinson's disease

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


    MT-CO1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MT-CO1

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

    5/61 Interacting proteins for MT-CO1 (P003952, 3 ENSP000003544994) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPD1P108092, ENSP000003400194MINT-7965841 MINT-7965791 MINT-7965826 STRING: ENSP00000340019
    CLEC4GQ6UXB43, ENSP000003275994I2D: score=2 STRING: ENSP00000327599
    COX4I1P130733, ENSP000002534524I2D: score=1 STRING: ENSP00000253452
    COX5AP206743, ENSP000003177804I2D: score=1 STRING: ENSP00000317780
    FHP079543, ENSP000003555184I2D: score=1 STRING: ENSP00000355518
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006123mitochondrial electron transport, cytochrome c to oxygen NAS--
    GO:0006979response to oxidative stress ----
    GO:0007568aging ----
    GO:0009060aerobic respiration IEA--
    GO:0021549cerebellum development ----


    MT-CO1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MT-CO1 gene

    (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

    MT-CO1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MT-CO1

    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

    10/13 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about MT-CO1 / COX1 

    Transcripts
    for MT-CO1 gene

    (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
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000361624(uc011mfh.2)

    miRNA
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    Inhib. RNA
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    Primer
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    GeneLoc Exon Structure


    Expression
    for MT-CO1 gene

    (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

    MT-CO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See MT-CO1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MT-CO1
        SABiosciences Custom PCR Arrays for MT-CO1
    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for MT-CO1 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for MT-CO1 gene from 10/26 species (see all 26)    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
    cytochrome c oxidase subunit I1    		 77.93(n)1
    89.65(a)1    		   MT5
    177081  COX1_345386001  NP_904330.11 
     53285 
    chicken
    (Gallus gallus)    		 Aves COX11 cytochrome c oxidase subunit I 77.19(n)
    83.53(a)    		   807639  COX1_5834846  NP_006917.1 
    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 prf810024C (H.sapiens) 810024C cytochrome oxidase I [Homo sapiens] less 75.94(n)    AI545762.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta COX11 cytochrome c oxidase subunit I 66.8(n)
    75.35(a)    		   192469  COX1_5835235  NP_008278.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea COX11 cytochrome c oxidase subunit I 57.4(n)
    57.99(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 member of the mitochondrial inner membrane electron transport chain; one of three mitochondrially-encoded subunits less4
    Cox1p1    		 59.24(n)1
    58.65(a)1    		   17(13818-26701)4
    8545981, 4  NP_009305.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons cox11 cytochrome c oxidase subunit 1 61.62(n)
    67.33(a)    		   814620  cox1_13449404  NP_085587.1 
    rice
    (Oryza sativa)    		 Liliopsida Os.235162 Transcribed sequence with weak similarity to protein prf810024C (H.sapiens) 810024C cytochrome oxidase I [Homo sapiens] less 70.69(n)    CA759861.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria cyoB6
    		 cytochrome o ubiquinol oxidase subunit I
    		 30(a)
    		 1 ↔ 1
    		 Chromosome(447874-449865) b0431


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

    Paralogs
    for MT-CO1 gene

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

    MT-CO1 for paralogs           About GeneDecksing


    5/79 Pseudogenes.org Pseudogenes for MT-CO1 (see all 79)
    PGOHUM00000238520 PGOHUM00000242449 PGOHUM00000242644 PGOHUM00000242798 PGOHUM00000239309


    Genomic Variants
    for MT-CO1 gene

    (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

    Human Gene Mutation Database (HGMD): MT-CO1
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MT-CO1
    DNA2.0 Custom Variant and Variant Library Synthesis for MT-CO1

    Disorders / Diseases
    for MT-CO1 gene

    (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.)
    About This Section
    MT-CO1 for disorders           About GeneDecksing

    OMIM gene information: 516030    OMIM disorders: --

    UniProtKB/Swiss-Prot: COX1_HUMAN, P00395
  • Defects in MT-CO1 are a cause of Leber hereditary optic neuropathy (LHON) [MIM:535000]. LHON is 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=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
  • Defects in MT-CO1 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; also known as
    • cytochrome c oxidase deficiency. 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,
    excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients
    manifest Leigh syndrome
  • Defects in MT-CO1 are associated with 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
  • Defects in MT-CO1 are a cause of deafness sensorineural mitochondrial (DFNM) [MIM:500008]. DFNM is a form of
    • non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual,
    sensorineural hearing loss involving high frequencies
  • Defects in MT-CO1 are a cause of colorectal cancer (CRC) [MIM:114500]

    • 20/56 diseases for MT-CO1 (see all 56):    About MalaCards
    leber hereditary optic neuropathy    pthirus pubis infestation    leech infestation    alveolar echinococcosis
    type 2 diabetes mellitus    echinococcosis    mitochondrial encephalomyopathy    iron overload
    steatitis    lactic acidosis    myiasis    chronic obstructive pulmonary disease
    megaloblastic anemia    sideroblastic anemia    virilization    cystic echinococcosis
    diphyllobothriasis    encephalomyopathy    cysticercosis    diabetes mellitus

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

    10/15 Novoseek 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

    Publications
    for MT-CO1 gene

    (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 MT-CO1 gene, integrated from 9 sources (see all 252):
    (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. (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. (2002)
    3. Arachidonate lipoxygenase (ALOX) and cyclooxygenase (COX) polymorphisms and colon cancer risk. (PubMed id 15308583)1, 4 Goodman J.E.... Harris C.C. (2004)
    4. Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. (PubMed id 12140182)1, 2 Varlamov D.A....Kunz W.S. (2002)
    5. 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. (2001)
    6. 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. (2009)
    7. 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. (1992)
    8. [Mutation of mitochondria cytochrome oxidase gene in patients with myelodysplastic syndrome] (PubMed id 18718066)1, 9 Hou L....Meng W.T. (2008)
    9. Interaction of mitochondrial thioredoxin with glucoco rticoid receptor and NF-kappaB modulates glucocorticoid receptor and NF-kappaB signalling in HEK-293 cells. (PubMed id 19570036)1, 9 Psarra A.M....Spyrou G. (2009)
    10. PGC-1alpha/beta upregulation is associated with improved oxidative phosphorylation in cells harboring nonsense mtDNA mutations. (PubMed id 17341490)1, 9 Srivastava S....Moraes C.T. (2007)

    External Searches for MT-CO1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing MT-CO1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4512 HGNC: 7419 Ensembl:ENSG00000198804 euGenes: HUgn4512 ECgene: MT-CO1 Kegg: 4512
    H-InvDB: MT-CO1

    Other Databases showing MT-CO1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MT-CO1 gene

    (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 MT-CO1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MT-CO1

    Intellectual Property
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    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for MT-CO1 gene:
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