Details for: COX1

Gene ID: 4512

Symbol: COX1

Ensembl ID: ENSG00000198804

Description: cytochrome c oxidase subunit I

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 12.06
    Marker Score: 160422
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 8.25
    Marker Score: 5516
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 8.08
    Marker Score: 5516.5
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 7.86
    Marker Score: 14313
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 7.6
    Marker Score: 6541
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 6.49
    Marker Score: 1902
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 6.42
    Marker Score: 31516
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 6.38
    Marker Score: 6627
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 6.01
    Marker Score: 35669
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 5.98
    Marker Score: 46660
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 5.93
    Marker Score: 12507
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 5.85
    Marker Score: 12256
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 5.7
    Marker Score: 14490
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: 5.59
    Marker Score: 4055
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 5.53
    Marker Score: 16144
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 5.49
    Marker Score: 7149
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 5.46
    Marker Score: 4648
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: 5.3
    Marker Score: 2723
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 5.23
    Marker Score: 3691
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 5.17
    Marker Score: 51156
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 5.14
    Marker Score: 18245
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 5.13
    Marker Score: 174402
  • Cell Name: naive T cell (CL0000898)
    Fold Change: 5.11
    Marker Score: 3293.5
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 5.06
    Marker Score: 8681
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 5.04
    Marker Score: 12386
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 4.96
    Marker Score: 3760
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 4.91
    Marker Score: 5793
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 4.87
    Marker Score: 15368
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 4.83
    Marker Score: 1820
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 4.82
    Marker Score: 254799
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 4.82
    Marker Score: 3201
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 4.81
    Marker Score: 28924.5
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 4.8
    Marker Score: 8118
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 4.78
    Marker Score: 30506
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 4.74
    Marker Score: 2877
  • Cell Name: memory T cell (CL0000813)
    Fold Change: 4.72
    Marker Score: 2030
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 4.72
    Marker Score: 3215
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 4.72
    Marker Score: 21835
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 4.6
    Marker Score: 257413
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 4.6
    Marker Score: 11217
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 4.59
    Marker Score: 5102
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 4.59
    Marker Score: 5541
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 4.52
    Marker Score: 59645
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 4.5
    Marker Score: 3687
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 4.49
    Marker Score: 5396
  • Cell Name: CD8-alpha alpha positive, gamma-delta intraepithelial T cell (CL0000802)
    Fold Change: 4.49
    Marker Score: 1459
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 4.46
    Marker Score: 3981
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 4.46
    Marker Score: 27073
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 4.44
    Marker Score: 3160
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 4.42
    Marker Score: 1056
  • Cell Name: blood cell (CL0000081)
    Fold Change: 4.4
    Marker Score: 51199
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 4.4
    Marker Score: 6364
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 4.38
    Marker Score: 11744.5
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 4.38
    Marker Score: 884
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 4.37
    Marker Score: 3426
  • Cell Name: theca cell (CL0000503)
    Fold Change: 4.36
    Marker Score: 3126
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 4.36
    Marker Score: 4110
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 4.35
    Marker Score: 1988
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 4.32
    Marker Score: 3671
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 4.26
    Marker Score: 11963.5
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 4.24
    Marker Score: 2582
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 4.22
    Marker Score: 4074
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 4.21
    Marker Score: 10286
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 4.14
    Marker Score: 1525
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 4.13
    Marker Score: 3200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 4.11
    Marker Score: 9374
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 4.1
    Marker Score: 1316
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 4.09
    Marker Score: 17555
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 4.09
    Marker Score: 7691
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: 4.08
    Marker Score: 3595.5
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 4.07
    Marker Score: 30271
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 4.07
    Marker Score: 4764.5
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 4.06
    Marker Score: 2308
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 4.05
    Marker Score: 4329
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 4.04
    Marker Score: 2039
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 4.02
    Marker Score: 3431
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 4.02
    Marker Score: 5916
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 3.99
    Marker Score: 21473
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 3.99
    Marker Score: 2665
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 3.97
    Marker Score: 3911
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 3.96
    Marker Score: 4012
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 3.92
    Marker Score: 1070
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 3.91
    Marker Score: 2403
  • Cell Name: glomerular endothelial cell (CL0002188)
    Fold Change: 3.91
    Marker Score: 991.5
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 3.89
    Marker Score: 3456
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 3.88
    Marker Score: 2141
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 3.88
    Marker Score: 889
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 3.87
    Marker Score: 2694
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 3.81
    Marker Score: 1376
  • Cell Name: immature B cell (CL0000816)
    Fold Change: 3.8
    Marker Score: 2516
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 3.78
    Marker Score: 3748
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 3.78
    Marker Score: 1516
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 3.77
    Marker Score: 1689
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 3.77
    Marker Score: 1028
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 3.76
    Marker Score: 4302
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 3.76
    Marker Score: 974
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 3.76
    Marker Score: 3534
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 3.75
    Marker Score: 1294
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 3.75
    Marker Score: 3114
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.72
    Marker Score: 24212

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Other Information

**Key characteristics:** * The COX1 gene is located on chromosome 15q23.1. * It is a large gene, encoding for a protein of 1271 amino acids. * The protein is expressed in a variety of cell types, including cardiac muscle cells, skeletal muscle satellite cells, hepatocytes, microglial cells, pulmonary artery endothelial cells, tracheobronchial smooth muscle cells, myoepithelial cells of the mammary gland, pancreatic ductal cells, Sertoli cells, and stratified epithelial cells. **Pathways and functions:** * The COX1 gene is involved in a variety of cellular pathways, including cellular responses to stimuli, cellular responses to stress, cellular response to chemical stress, and mitochondrial protein degradation. * The protein is also involved in the citric acid (tca) cycle and respiratory electron transport pathways. * Cytochrome c oxidase activity is regulated by a variety of factors, including calcium, phosphate, and reactive oxygen species. * COX1 is also a target for a number of drugs, including isoproteren and simvastatin. **Clinical significance:** * Mutations in the COX1 gene have been linked to a number of human diseases, including congestive heart failure, stroke, and liver disease. * These diseases are characterized by a decrease in cytochrome c oxidase activity, which leads to a decrease in ATP production and cell death. * COX1 gene therapy is being investigated as a treatment for these diseases.

Genular Protein ID: 2059656603

Symbol: COX1_HUMAN

Name: Cytochrome c oxidase subunit 1

UniProtKB Accession Codes:

P00395 Q34770

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CDD 1 CORUM 1 CTD 1 ChEBI 21 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 5 EC 2 EMBL 100 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 16 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MIM 11 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 4 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7219534

Title: Sequence and organization of the human mitochondrial genome.

PubMed ID: 7219534

DOI: 10.1038/290457a0

PubMed ID: 7530363

Title: Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.

PubMed ID: 7530363

DOI: 10.1073/pnas.92.2.532

PubMed ID: 12949126

Title: Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.

PubMed ID: 12949126

DOI: 10.1093/molbev/msg230

PubMed ID: 11130070

Title: Mitochondrial genome variation and the origin of modern humans.

PubMed ID: 11130070

DOI: 10.1038/35047064

PubMed ID: 12840039

Title: Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.

PubMed ID: 12840039

DOI: 10.1101/gr.686603

PubMed ID: 14760490

Title: Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.

PubMed ID: 14760490

DOI: 10.1007/s00414-004-0427-6

PubMed ID: 6260957

Title: Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing.

PubMed ID: 6260957

DOI: 10.1016/0022-2836(80)90196-5

PubMed ID: 10577941

Title: Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.

PubMed ID: 10577941

DOI: 10.1086/302658

PubMed ID: 26321642

Title: MITRAC7 acts as a COX1-specific chaperone and reveals a checkpoint during cytochrome c oxidase assembly.

PubMed ID: 26321642

DOI: 10.1016/j.celrep.2015.08.009

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29154948

Title: The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.

PubMed ID: 29154948

DOI: 10.1016/j.bbamcr.2017.11.010

PubMed ID: 28844695

Title: Architecture of human mitochondrial respiratory megacomplex I2III2IV2.

PubMed ID: 28844695

DOI: 10.1016/j.cell.2017.07.050

PubMed ID: 30030519

Title: Structure of the intact 14-subunit human cytochrome c oxidase.

PubMed ID: 30030519

DOI: 10.1038/s41422-018-0071-1

PubMed ID: 1757091

Title: Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.

PubMed ID: 1757091

DOI: 10.1007/bf00206061

PubMed ID: 1322638

Title: 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

PubMed ID: 9389715

Title: Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.

PubMed ID: 9389715

PubMed ID: 9851701

Title: MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase.

PubMed ID: 9851701

DOI: 10.1046/j.1432-1327.1998.2580132.x

PubMed ID: 10980727

Title: Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

PubMed ID: 10980727

DOI: 10.1212/wnl.55.5.644

PubMed ID: 12140182

Title: Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.

PubMed ID: 12140182

DOI: 10.1093/hmg/11.16.1797

PubMed ID: 16284789

Title: Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.

PubMed ID: 16284789

DOI: 10.1007/s10048-005-0015-z

PubMed ID: 16407113

Title: Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.

PubMed ID: 16407113

DOI: 10.1073/pnas.0505903103

PubMed ID: 19218458

Title: A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.

PubMed ID: 19218458

DOI: 10.1073/pnas.0811450106

Sequence Information:

  • Length: 513
  • Mass: 57041
  • Checksum: DBCBFE808650AE0D
  • Sequence:
    • MFADRWLFST NHKDIGTLYL LFGAWAGVLG TALSLLIRAE LGQPGNLLGN DHIYNVIVTA 
HAFVMIFFMV MPIMIGGFGN WLVPLMIGAP DMAFPRMNNM SFWLLPPSLL LLLASAMVEA 
GAGTGWTVYP PLAGNYSHPG ASVDLTIFSL HLAGVSSILG AINFITTIIN MKPPAMTQYQ 
TPLFVWSVLI TAVLLLLSLP VLAAGITMLL TDRNLNTTFF DPAGGGDPIL YQHLFWFFGH 
PEVYILILPG FGMISHIVTY YSGKKEPFGY MGMVWAMMSI GFLGFIVWAH HMFTVGMDVD 
TRAYFTSATM IIAIPTGVKV FSWLATLHGS NMKWSAAVLW ALGFIFLFTV GGLTGIVLAN 
SSLDIVLHDT YYVVAHFHYV LSMGAVFAIM GGFIHWFPLF SGYTLDQTYA KIHFTIMFIG 
VNLTFFPQHF LGLSGMPRRY SDYPDAYTTW NILSSVGSFI SLTAVMLMIF MIWEAFASKR 
KVLMVEEPSM NLEWLYGCPP PYHTFEEPVY MKS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.