Details for: COX6A1

Gene ID: 1337

Symbol: COX6A1

Ensembl ID: ENSG00000111775

Description: cytochrome c oxidase subunit 6A1

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: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 5.04
    Marker Score: 3557.5
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 4.71
    Marker Score: 23154
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 4.32
    Marker Score: 2305
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 4.05
    Marker Score: 7390
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 3.95
    Marker Score: 39093
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 3.83
    Marker Score: 28528.5
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 3.81
    Marker Score: 51137
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 3.73
    Marker Score: 2921
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 3.73
    Marker Score: 22657
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 3.7
    Marker Score: 9908
  • Cell Name: blood cell (CL0000081)
    Fold Change: 3.64
    Marker Score: 42305.5
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 3.57
    Marker Score: 199370
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 3.49
    Marker Score: 4218
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 3.48
    Marker Score: 45952
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 3.48
    Marker Score: 8509
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 3.48
    Marker Score: 30202.5
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 3.41
    Marker Score: 10717
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 3.41
    Marker Score: 10754
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 3.39
    Marker Score: 26465
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 3.35
    Marker Score: 3157.5
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 3.32
    Marker Score: 5497
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 3.3
    Marker Score: 21505
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 3.3
    Marker Score: 1216
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 3.26
    Marker Score: 113012
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 3.25
    Marker Score: 8973
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 3.24
    Marker Score: 6097
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 3.24
    Marker Score: 3903
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 3.2
    Marker Score: 2856.5
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 3.19
    Marker Score: 2515
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 3.19
    Marker Score: 2135
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 3.18
    Marker Score: 12274
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 3.18
    Marker Score: 13636
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 3.14
    Marker Score: 166075
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 3.13
    Marker Score: 3172.5
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 3.12
    Marker Score: 9101
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 3.11
    Marker Score: 16366
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 3.1
    Marker Score: 4938
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 3.1
    Marker Score: 19772
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 3.1
    Marker Score: 14866
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 3.09
    Marker Score: 3225
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 3.09
    Marker Score: 3298.5
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 3.08
    Marker Score: 4740.5
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 3.06
    Marker Score: 2179
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 3.05
    Marker Score: 1855
  • Cell Name: centroblast (CL0009112)
    Fold Change: 3.03
    Marker Score: 1495
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 3.03
    Marker Score: 1046
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 3.01
    Marker Score: 2909
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 3.01
    Marker Score: 7648
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 3.01
    Marker Score: 2641
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 3
    Marker Score: 4241.5
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 2.98
    Marker Score: 1749
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 2.98
    Marker Score: 19389
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 2.97
    Marker Score: 4305
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 2.97
    Marker Score: 2843
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 2.95
    Marker Score: 4348
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 2.94
    Marker Score: 2766
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 2.94
    Marker Score: 4724
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.92
    Marker Score: 25198
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.92
    Marker Score: 10376
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.91
    Marker Score: 17235
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.91
    Marker Score: 694
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 2.9
    Marker Score: 1824
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 2.9
    Marker Score: 7134.5
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.9
    Marker Score: 5894
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.9
    Marker Score: 8601
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 2.88
    Marker Score: 1687
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 2.88
    Marker Score: 1148
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 2.87
    Marker Score: 1887
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 2.86
    Marker Score: 6981.5
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 2.86
    Marker Score: 5109
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 2.86
    Marker Score: 3269
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.84
    Marker Score: 96721
  • Cell Name: basal cell (CL0000646)
    Fold Change: 2.84
    Marker Score: 3665
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 2.83
    Marker Score: 2520
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 2.82
    Marker Score: 1338
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 2.81
    Marker Score: 2397
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 2.81
    Marker Score: 3980
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 2.8
    Marker Score: 71747
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 2.8
    Marker Score: 4586.5
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 2.8
    Marker Score: 17871
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 2.79
    Marker Score: 564
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 2.78
    Marker Score: 7812
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 2.78
    Marker Score: 4776
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 2.78
    Marker Score: 3344.5
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 2.77
    Marker Score: 1270
  • Cell Name: Unknown (CL0000548)
    Fold Change: 2.76
    Marker Score: 2009
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 2.75
    Marker Score: 2459.5
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 2.75
    Marker Score: 6237
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 2.75
    Marker Score: 2748
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 2.75
    Marker Score: 2913
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 2.74
    Marker Score: 950
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 2.74
    Marker Score: 5477.5
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 2.74
    Marker Score: 2325
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 2.73
    Marker Score: 708
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 2.73
    Marker Score: 1618
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 2.72
    Marker Score: 3541
  • Cell Name: club cell (CL0000158)
    Fold Change: 2.72
    Marker Score: 3170.5
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 2.71
    Marker Score: 1219
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.7
    Marker Score: 11642
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 2.7
    Marker Score: 3029

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Other Information

**Key characteristics:** * The COX6A1 gene is located on chromosome 15q21.1. * It is a large gene, encoding for a protein of 1,312 amino acids. * The protein is a transmembrane protein that is found in the mitochondrial outer membrane. * It is a key regulator of cellular respiration and is involved in the regulation of energy production in muscle cells. **Pathways and functions:** * The COX6A1 gene is involved in several metabolic pathways, including cellular respiration, cellular responses to stimuli, cellular responses to stress, and heat production. * In cellular respiration, COX6A1 is responsible for the final step in the electron transport chain, where electrons are transferred from cytochrome c to oxygen. * It is also involved in the regulation of energy production in muscle cells. * In cellular responses to stimuli, COX6A1 is expressed in a variety of cell types, including monocytic cells, epithelial cells, and immune cells. It is involved in the regulation of inflammatory responses and cell migration. * In cellular responses to stress, COX6A1 is expressed in a variety of cell types, including monocytic cells, epithelial cells, and immune cells. It is involved in the regulation of inflammation, cell migration, and apoptosis. **Clinical significance:** Mutations in the COX6A1 gene have been linked to several human diseases, including mitochondrial respiratory distress syndrome, lactic acidosis, and sepsis. These diseases are characterized by a decrease in blood oxygen levels and an increase in lactic acid levels. COX6A1 is a key regulator of cellular respiration, and mutations in this gene can lead to a decrease in oxygen consumption and an increase in lactic acid production. This can lead to a number of clinical symptoms, including muscle weakness, shortness of breath, and confusion.

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 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 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 3 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SWISS-2DPAGE 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 2 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. For the full schema, download it here.