Details for: COX6A1

Gene ID: 1337

Symbol: COX6A1

Ensembl ID: ENSG00000111775

Description: cytochrome c oxidase subunit 6A1

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 560.6087
    Cell Significance Index: -87.2000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 374.6993
    Cell Significance Index: -95.0400
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 297.9384
    Cell Significance Index: -122.7400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 253.5146
    Cell Significance Index: -119.6900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 244.9720
    Cell Significance Index: -126.0100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 179.4725
    Cell Significance Index: -120.4300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 89.0867
    Cell Significance Index: -109.8400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 33.6486
    Cell Significance Index: -103.3500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 30.3088
    Cell Significance Index: -119.6000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 28.0884
    Cell Significance Index: -75.2500
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 12.6938
    Cell Significance Index: 134.8700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 6.0100
    Cell Significance Index: 315.5500
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 5.5742
    Cell Significance Index: 34.3100
  • Cell Name: peg cell (CL4033014)
    Fold Change: 5.3607
    Cell Significance Index: 123.8500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 5.2184
    Cell Significance Index: 48.0600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 4.9070
    Cell Significance Index: 884.5800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 4.7218
    Cell Significance Index: 37.7000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 4.6450
    Cell Significance Index: 346.1900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 4.5269
    Cell Significance Index: 132.9500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 4.4237
    Cell Significance Index: 521.6900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 4.3266
    Cell Significance Index: 532.0000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 4.2588
    Cell Significance Index: 111.9900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 4.1212
    Cell Significance Index: 2250.7000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 4.1142
    Cell Significance Index: 193.3700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 3.8778
    Cell Significance Index: 105.5500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 3.7178
    Cell Significance Index: 173.3400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 3.6865
    Cell Significance Index: 41.8800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 3.5058
    Cell Significance Index: 452.9200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 3.4349
    Cell Significance Index: 471.7100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 3.4254
    Cell Significance Index: 63.3100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 3.2334
    Cell Significance Index: 1429.5500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 3.1906
    Cell Significance Index: 225.6500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.9678
    Cell Significance Index: 62.1200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.8116
    Cell Significance Index: 127.4400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.6950
    Cell Significance Index: 173.8700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 2.6882
    Cell Significance Index: 20.7200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.4481
    Cell Significance Index: 127.1700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 2.3363
    Cell Significance Index: 41.2900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 2.2719
    Cell Significance Index: 291.2400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 2.2568
    Cell Significance Index: 223.2500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.9596
    Cell Significance Index: 318.7200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.8428
    Cell Significance Index: 53.1000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.4265
    Cell Significance Index: 49.5700
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.3380
    Cell Significance Index: 17.1400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.3163
    Cell Significance Index: 82.9600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.1712
    Cell Significance Index: 17.5500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.9368
    Cell Significance Index: 269.5600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.8453
    Cell Significance Index: 9.1900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.8202
    Cell Significance Index: 156.0900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.7808
    Cell Significance Index: 133.3300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.7052
    Cell Significance Index: 533.7500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6226
    Cell Significance Index: 124.8900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.5997
    Cell Significance Index: 17.1900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.5977
    Cell Significance Index: 438.2500
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.5682
    Cell Significance Index: 4.2900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2521
    Cell Significance Index: 8.8600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.2517
    Cell Significance Index: 6.7200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1929
    Cell Significance Index: 174.1400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1904
    Cell Significance Index: 68.3100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.1082
    Cell Significance Index: 12.3500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0935
    Cell Significance Index: 1.5700
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 0.0745
    Cell Significance Index: 0.6400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0299
    Cell Significance Index: -22.1600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0533
    Cell Significance Index: -33.2700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0618
    Cell Significance Index: -116.2700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0708
    Cell Significance Index: -4.3500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0708
    Cell Significance Index: -130.6300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0849
    Cell Significance Index: -130.7000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0960
    Cell Significance Index: -9.8100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0967
    Cell Significance Index: -131.4900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1283
    Cell Significance Index: -72.3600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1607
    Cell Significance Index: -33.8400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.1894
    Cell Significance Index: -120.2800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.2001
    Cell Significance Index: -13.8400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2518
    Cell Significance Index: -28.8500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.2731
    Cell Significance Index: -123.9700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2805
    Cell Significance Index: -22.2200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4360
    Cell Significance Index: -13.9700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.4920
    Cell Significance Index: -97.6400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.6230
    Cell Significance Index: -15.9200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.6425
    Cell Significance Index: -13.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.6970
    Cell Significance Index: -81.2300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.7663
    Cell Significance Index: -4.6300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.8376
    Cell Significance Index: -121.7500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -1.0702
    Cell Significance Index: -54.0900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.0833
    Cell Significance Index: -60.7900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -1.1285
    Cell Significance Index: -46.2400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -1.1573
    Cell Significance Index: -120.5000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -1.3563
    Cell Significance Index: -104.0800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -1.4853
    Cell Significance Index: -41.5100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -1.5000
    Cell Significance Index: -12.6000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.5710
    Cell Significance Index: -39.2700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -1.5875
    Cell Significance Index: -21.6600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -1.8214
    Cell Significance Index: -122.4700
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -1.8708
    Cell Significance Index: -32.2500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.8713
    Cell Significance Index: -50.0600
  • Cell Name: theca cell (CL0000503)
    Fold Change: -1.9081
    Cell Significance Index: -11.2100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.9472
    Cell Significance Index: -119.3800
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -1.9601
    Cell Significance Index: -40.8800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -2.1174
    Cell Significance Index: -29.7000

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** The COX6A1 gene is a mitochondrial gene, which means it is encoded in the mitochondrial DNA (mtDNA) and is present in all cells of the body. The gene encodes a 74-amino acid protein that is a subunit of the cytochrome c oxidase complex. This complex is a heterodimeric enzyme composed of multiple subunits, with COX6A1 being one of the 13 subunits. The COX6A1 protein is a transmembrane protein, with a hydrophobic N-terminus and a hydrophilic C-terminus. It is highly conserved across species, suggesting its importance in cellular function. **Pathways and Functions** The COX6A1 gene is involved in several key pathways, including: 1. **Cellular Respiration**: The COX6A1 gene is essential for the production of ATP through the electron transport chain. The cytochrome c oxidase complex, to which COX6A1 is a subunit, is the final step of the electron transport chain, where oxygen is reduced to water. 2. **Mitochondrial Electron Transport**: COX6A1 plays a critical role in the mitochondrial electron transport chain, where electrons are passed through a series of protein complexes to generate a proton gradient. This gradient is used to produce ATP through chemiosmosis. 3. **Oxidoreductase Activity**: COX6A1 is an oxidoreductase enzyme, which means it catalyzes the transfer of electrons from one molecule to another. 4. **Cytoprotection**: The COX6A1 gene has been implicated in cytoprotection, which is the protection of cells from oxidative stress. The cytochrome c oxidase complex has antioxidant properties, which help to protect cells from damage caused by reactive oxygen species (ROS). **Clinical Significance** Alterations in the COX6A1 gene have been implicated in several diseases, including: 1. **Cancer**: COX6A1 is overexpressed in several types of cancer, including breast, lung, and colon cancer. This overexpression is associated with poor prognosis and increased tumor aggressiveness. 2. **Metabolic Disorders**: COX6A1 is also implicated in metabolic disorders, such as diabetes and obesity. The gene is involved in glucose metabolism and insulin signaling, and alterations in COX6A1 expression have been linked to these disorders. 3. **Neurodegenerative Diseases**: COX6A1 has been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. The gene is involved in mitochondrial function and energy metabolism, and alterations in COX6A1 expression have been linked to these diseases. In conclusion, the COX6A1 gene plays a critical role in cellular respiration, mitochondrial electron transport, and cytoprotection. Alterations in the expression or function of COX6A1 have been implicated in various diseases, including cancer, metabolic disorders, and neurodegenerative diseases. Further research is needed to fully understand the role of COX6A1 in human disease and to develop therapeutic strategies to manipulate its expression or function.

Genular Protein ID: 3783709580

Symbol: CX6A1_HUMAN

Name: Cytochrome c oxidase subunit 6A1, mitochondrial

UniProtKB Accession Codes:

P12074 B2R500 O43714 Q32Q37

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIRSF 1 PRO 1 PROSITE 1 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 4 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2549515

Title: Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase.

PubMed ID: 2549515

DOI: 10.1093/nar/17.15.6409

PubMed ID: 1286669

Title: Human liver protein map: a reference database established by microsequencing and gel comparison.

PubMed ID: 1286669

DOI: 10.1002/elps.11501301201

PubMed ID: 25152455

Title: A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.

PubMed ID: 25152455

DOI: 10.1016/j.ajhg.2014.07.013

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

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

Sequence Information:

  • Length: 109
  • Mass: 12155
  • Checksum: 0040F47CECE767B1
  • Sequence:
    • MAVVGVSSVS RLLGRSRPQL GRPMSSGAHG EEGSARMWKT LTFFVALPGV AVSMLNVYLK 
SHHGEHERPE FIAYPHLRIR TKPFPWGDGN HTLFHNPHVN PLPTGYEDE

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.