Details for: COX1

Gene ID: 4512

Symbol: COX1

Ensembl ID: ENSG00000198804

Description: cytochrome c oxidase subunit I

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 999.4013
    Cell Significance Index: -471.8400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 972.8117
    Cell Significance Index: -500.4000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 705.4313
    Cell Significance Index: -473.3600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 74.7990
    Cell Significance Index: 2745.8200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 73.5985
    Cell Significance Index: -197.1600
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 69.4805
    Cell Significance Index: 974.5700
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 57.6649
    Cell Significance Index: 458.8100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 51.5472
    Cell Significance Index: 4082.5400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 50.6454
    Cell Significance Index: 37133.0100
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 44.0893
    Cell Significance Index: 118.1100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 34.4447
    Cell Significance Index: 508.4000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 20.2695
    Cell Significance Index: 2070.5200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 19.3005
    Cell Significance Index: 1013.3500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 15.1362
    Cell Significance Index: 386.6800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 13.5837
    Cell Significance Index: 1477.5000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 13.0419
    Cell Significance Index: 354.9900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 12.8993
    Cell Significance Index: 7044.6400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 11.7927
    Cell Significance Index: 217.9600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 11.3540
    Cell Significance Index: 104.5600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 11.0160
    Cell Significance Index: 289.6700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 10.4765
    Cell Significance Index: 474.8700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 9.6175
    Cell Significance Index: 1182.5600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 9.3041
    Cell Significance Index: 268.0700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 9.0873
    Cell Significance Index: 1174.0100
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: 9.0239
    Cell Significance Index: 188.2000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 9.0016
    Cell Significance Index: 1236.1700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 8.8419
    Cell Significance Index: 658.9800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 8.8302
    Cell Significance Index: 6683.7400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 8.5534
    Cell Significance Index: 398.8000
  • Cell Name: peg cell (CL4033014)
    Fold Change: 7.9430
    Cell Significance Index: 183.5100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 7.9209
    Cell Significance Index: 372.2800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 7.8004
    Cell Significance Index: 271.0600
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 7.5919
    Cell Significance Index: 47.1000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 7.5812
    Cell Significance Index: 1366.6500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 6.9047
    Cell Significance Index: 445.4600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 6.7120
    Cell Significance Index: 860.4400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 6.2784
    Cell Significance Index: 621.0700
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 5.1989
    Cell Significance Index: 66.5800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 4.6151
    Cell Significance Index: 132.3000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 4.0553
    Cell Significance Index: 46.0700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 3.8470
    Cell Significance Index: 3473.5200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 3.8097
    Cell Significance Index: 57.4100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 3.5320
    Cell Significance Index: 103.7300
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 3.5249
    Cell Significance Index: 62.2900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 3.0035
    Cell Significance Index: 1077.3100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.5573
    Cell Significance Index: 507.5100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 2.4513
    Cell Significance Index: 398.6800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.6082
    Cell Significance Index: 322.6100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.4345
    Cell Significance Index: 273.0000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.3048
    Cell Significance Index: 21.9800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 1.2370
    Cell Significance Index: 43.4700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.4738
    Cell Significance Index: 12.6500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.1881
    Cell Significance Index: -354.2100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.3448
    Cell Significance Index: -635.9000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.4138
    Cell Significance Index: -636.9800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.4737
    Cell Significance Index: -644.1000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.5509
    Cell Significance Index: -94.0700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.6055
    Cell Significance Index: -448.4900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.6711
    Cell Significance Index: -34.8600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.6834
    Cell Significance Index: -434.0600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.8106
    Cell Significance Index: -457.1400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.8697
    Cell Significance Index: -394.7400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.9071
    Cell Significance Index: -566.4800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -1.1343
    Cell Significance Index: -326.3700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -1.1443
    Cell Significance Index: -68.7000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -1.7579
    Cell Significance Index: -13.5500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -1.8299
    Cell Significance Index: -209.6500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -1.9930
    Cell Significance Index: -137.8300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -2.1866
    Cell Significance Index: -45.7700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -2.4727
    Cell Significance Index: -166.2700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -2.5070
    Cell Significance Index: -528.0300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -2.5309
    Cell Significance Index: -81.0600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -2.8707
    Cell Significance Index: -71.7600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -2.9897
    Cell Significance Index: -58.3500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -3.1886
    Cell Significance Index: -178.9300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -3.3263
    Cell Significance Index: -483.5100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -3.3790
    Cell Significance Index: -56.5500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -3.4517
    Cell Significance Index: -264.8800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -3.8456
    Cell Significance Index: -236.3700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -4.1103
    Cell Significance Index: -427.9800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -4.2991
    Cell Significance Index: -93.1400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -5.4361
    Cell Significance Index: -342.6200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -5.8055
    Cell Significance Index: -86.9900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -6.5347
    Cell Significance Index: -400.6400
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -7.2998
    Cell Significance Index: -125.8400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -7.4444
    Cell Significance Index: -212.4400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -7.5400
    Cell Significance Index: -160.5800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -8.8138
    Cell Significance Index: -91.2400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -9.2138
    Cell Significance Index: -465.6400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -9.4627
    Cell Significance Index: -253.1200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -9.4911
    Cell Significance Index: -419.8200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -9.7337
    Cell Significance Index: -286.7000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -11.5793
    Cell Significance Index: -438.4800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -11.7430
    Cell Significance Index: -481.1700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -11.7945
    Cell Significance Index: -160.9200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -11.7960
    Cell Significance Index: -140.6200
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -11.7982
    Cell Significance Index: -94.2000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -12.7615
    Cell Significance Index: -264.7300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -13.3424
    Cell Significance Index: -467.4100
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -13.8440
    Cell Significance Index: -105.8300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Subunit of cytochrome c oxidase complex IV**: COX1 is a crucial subunit of the mitochondrial respiratory chain complex IV, which is responsible for the transfer of electrons from cytochrome c to oxygen. 2. **Essential for energy metabolism**: COX1 is a key player in the process of cellular respiration, where it contributes to the production of ATP through the electron transport chain. 3. **Widespread expression**: COX1 is expressed in various cell types, including cardiac muscle cells, skeletal muscle satellite cells, hepatocytes, and microglial cells, among others. 4. **Involved in stress response**: COX1 has been implicated in the response to oxidative stress, hypoxia, and copper ion exposure, highlighting its role in maintaining cellular homeostasis under stressful conditions. 5. **Regulates gene expression**: COX1 has been shown to interact with transcription factors, such as TP53, to regulate gene expression and maintain cellular homeostasis. **Pathways and Functions:** 1. **Cellular respiration**: COX1 is essential for the electron transport chain, where it facilitates the transfer of electrons from cytochrome c to oxygen, contributing to the production of ATP. 2. **Stress response**: COX1 has been implicated in the response to oxidative stress, hypoxia, and copper ion exposure, highlighting its role in maintaining cellular homeostasis under stressful conditions. 3. **Gene regulation**: COX1 interacts with transcription factors, such as TP53, to regulate gene expression and maintain cellular homeostasis. 4. **Metabolic regulation**: COX1 has been shown to regulate metabolic processes, including the citric acid cycle and respiratory electron transport. 5. **Cerebellum development**: COX1 has been implicated in the development of the cerebellum, highlighting its role in neural development and function. **Clinical Significance:** 1. **Mitochondrial disorders**: Mutations in the COX1 gene have been associated with mitochondrial disorders, such as Leigh syndrome and MELAS syndrome, which are characterized by impaired energy metabolism and oxidative stress. 2. **Cancer**: COX1 has been implicated in the development and progression of various cancers, including leukemia and lymphoma, highlighting its role in cancer metabolism and gene regulation. 3. **Neurodegenerative diseases**: COX1 has been implicated in the development of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, which are characterized by impaired energy metabolism and oxidative stress. 4. **Cardiovascular disease**: COX1 has been implicated in the development of cardiovascular disease, which is characterized by impaired energy metabolism and oxidative stress in the cardiovascular system. In conclusion, COX1 is a critical gene that plays a pivotal role in maintaining cellular homeostasis, energy metabolism, and gene regulation. Its dysregulation has been implicated in various diseases, including mitochondrial disorders, cancer, neurodegenerative diseases, and cardiovascular disease. Further research is necessary to fully understand the complex role of COX1 in human health and disease.

Genular Protein ID: 2059656603

Symbol: COX1_HUMAN

Name: Cytochrome c oxidase subunit 1

UniProtKB Accession Codes:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.