Details for: COX6B1

Gene ID: 1340

Symbol: COX6B1

Ensembl ID: ENSG00000126267

Description: cytochrome c oxidase subunit 6B1

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: 667.1372
    Cell Significance Index: -103.7700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 384.7134
    Cell Significance Index: -97.5800
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 350.8334
    Cell Significance Index: -144.5300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 294.1397
    Cell Significance Index: -138.8700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 276.4659
    Cell Significance Index: -142.2100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 207.2510
    Cell Significance Index: -139.0700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 102.5909
    Cell Significance Index: -126.4900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 35.7648
    Cell Significance Index: -109.8500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 35.1111
    Cell Significance Index: -138.5500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 30.8489
    Cell Significance Index: -82.6400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 18.7381
    Cell Significance Index: -41.0100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 5.3104
    Cell Significance Index: 98.1500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 5.1576
    Cell Significance Index: 240.4700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 5.1468
    Cell Significance Index: 137.6800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 5.1419
    Cell Significance Index: 47.3500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 4.9588
    Cell Significance Index: 297.7000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 4.6717
    Cell Significance Index: 842.1600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 4.4237
    Cell Significance Index: 543.9400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 4.0855
    Cell Significance Index: 94.3900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 4.0768
    Cell Significance Index: 119.7300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 3.9780
    Cell Significance Index: 186.9600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 3.8910
    Cell Significance Index: 534.3400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 3.8726
    Cell Significance Index: 105.4100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 3.8251
    Cell Significance Index: 451.1000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 3.7482
    Cell Significance Index: 2046.9700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 3.7009
    Cell Significance Index: 194.3100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 3.3531
    Cell Significance Index: 88.1700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 3.1449
    Cell Significance Index: 25.1100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 3.0738
    Cell Significance Index: 229.0900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 3.0654
    Cell Significance Index: 1355.3000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 2.9887
    Cell Significance Index: 211.3800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.9491
    Cell Significance Index: 61.7300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.6512
    Cell Significance Index: 342.5200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 2.6176
    Cell Significance Index: 258.9400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.5901
    Cell Significance Index: 167.1000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.0787
    Cell Significance Index: 107.9800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 2.0193
    Cell Significance Index: 22.9400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.8227
    Cell Significance Index: 233.6600
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 1.5453
    Cell Significance Index: 9.5100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.4508
    Cell Significance Index: 247.7300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.9226
    Cell Significance Index: 10.0300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.7988
    Cell Significance Index: 21.3300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.7082
    Cell Significance Index: 24.6100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6690
    Cell Significance Index: 127.3100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.6494
    Cell Significance Index: 476.1200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.5583
    Cell Significance Index: 8.3700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.4835
    Cell Significance Index: 365.9800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.4038
    Cell Significance Index: 31.9800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3534
    Cell Significance Index: 70.8900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3211
    Cell Significance Index: 20.2400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.1343
    Cell Significance Index: 3.8500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.1243
    Cell Significance Index: 2.0800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1156
    Cell Significance Index: 22.9400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0632
    Cell Significance Index: 22.6700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0101
    Cell Significance Index: -0.1200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0186
    Cell Significance Index: -1.9000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0279
    Cell Significance Index: -52.4800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0394
    Cell Significance Index: -29.2000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0849
    Cell Significance Index: -156.6300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0885
    Cell Significance Index: -55.3000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.1039
    Cell Significance Index: -159.9400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.1230
    Cell Significance Index: -167.2100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.1556
    Cell Significance Index: -25.3100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1567
    Cell Significance Index: -88.3700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.1703
    Cell Significance Index: -108.1600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1736
    Cell Significance Index: -5.5600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1793
    Cell Significance Index: -5.1600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.2343
    Cell Significance Index: -106.3300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.3215
    Cell Significance Index: -67.7100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.3230
    Cell Significance Index: -11.3500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.3663
    Cell Significance Index: -105.3900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.5622
    Cell Significance Index: -64.4100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.5868
    Cell Significance Index: -14.9900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.5945
    Cell Significance Index: -41.1100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.6216
    Cell Significance Index: -10.9900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.6809
    Cell Significance Index: -19.0300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.7785
    Cell Significance Index: -90.7300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.8020
    Cell Significance Index: -116.5800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.8788
    Cell Significance Index: -11.2600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.8835
    Cell Significance Index: -19.1400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.8951
    Cell Significance Index: -102.1800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -1.1247
    Cell Significance Index: -86.3100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -1.2577
    Cell Significance Index: -17.1600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -1.3078
    Cell Significance Index: -136.1700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -1.3221
    Cell Significance Index: -81.2600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -1.3790
    Cell Significance Index: -62.5100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.7819
    Cell Significance Index: -99.9900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -1.8586
    Cell Significance Index: -124.9700
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -1.9027
    Cell Significance Index: -32.8000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -2.0439
    Cell Significance Index: -43.5300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -2.2669
    Cell Significance Index: -138.9900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -2.3497
    Cell Significance Index: -58.7400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -2.4513
    Cell Significance Index: -72.2000
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -2.7094
    Cell Significance Index: -16.3700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -2.8243
    Cell Significance Index: -48.4000
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -2.8261
    Cell Significance Index: -58.9400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -2.9810
    Cell Significance Index: -25.0400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -3.1082
    Cell Significance Index: -114.1000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -3.2091
    Cell Significance Index: -82.4900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -3.2831
    Cell Significance Index: -145.2200

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** COX6B1 is a mitochondrial protein that belongs to the cytochrome c oxidase complex, which is the final enzyme in the electron transport chain. This complex is responsible for transferring electrons from cytochrome c to oxygen, resulting in the production of water and ATP. COX6B1 is a subunit of this complex and is essential for its function. The gene is highly conserved across species, indicating its critical role in maintaining cellular respiration. **Pathways and Functions** The COX6B1 gene is involved in several cellular pathways, including cellular respiration, cellular responses to stimuli, cellular responses to stress, and cytochrome-c oxidase activity. The primary function of COX6B1 is to participate in the electron transport chain, where it contributes to the production of ATP. Additionally, COX6B1 is involved in the regulation of gene expression, particularly in response to cellular stress and damage. The gene is also involved in the regulation of cellular metabolism, including the citric acid cycle and respiratory electron transport. COX6B1 plays a critical role in maintaining cellular homeostasis and function, particularly in high-energy-demanding cells such as hematopoietic stem cells and blood cells. The gene is also involved in the regulation of cellular responses to stress and damage, including heat shock and oxidative stress. **Clinical Significance** Dysregulation of the COX6B1 gene has been implicated in several diseases, including cancer, neurodegenerative disorders, and metabolic disorders. For example, mutations in the COX6B1 gene have been associated with an increased risk of developing certain types of cancer, such as leukemia and lymphoma. Additionally, alterations in COX6B1 expression have been linked to neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease. Furthermore, COX6B1 has been shown to play a role in the regulation of cellular metabolism, including the metabolism of glucose and fatty acids. Alterations in COX6B1 expression have been linked to metabolic disorders, such as type 2 diabetes and obesity. In conclusion, the COX6B1 gene plays a critical role in maintaining cellular homeostasis and function, particularly in high-energy-demanding cells. Dysregulation of the gene has been implicated in several diseases, highlighting the importance of COX6B1 in human health and disease. **Implications for Research and Therapy** Further research is needed to fully understand the role of COX6B1 in human health and disease. Studies investigating the expression and function of COX6B1 in different cell types and tissues may provide valuable insights into its role in disease pathogenesis. Additionally, the development of therapeutic strategies targeting COX6B1 may offer new approaches for the treatment of diseases associated with dysregulation of this gene. In particular, researchers may investigate the following areas: 1. The role of COX6B1 in cancer development and progression. 2. The regulation of COX6B1 expression in response to cellular stress and damage. 3. The involvement of COX6B1 in metabolic disorders, such as type 2 diabetes and obesity. 4. The development of therapeutic strategies targeting COX6B1, such as small molecule inhibitors or RNA interference. Overall, further research into the COX6B1 gene is warranted to fully understand its role in human health and disease, and to develop effective therapeutic strategies for the treatment of diseases associated with dysregulation of this gene.

Genular Protein ID: 3802753109

Symbol: CX6B1_HUMAN

Name: Cytochrome c oxidase subunit 6B1

UniProtKB Accession Codes:

P14854 B2R5C9 Q6IBL4

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 DrugBank 2 EMBL 10 Ensembl 3 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 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: 2537962

Title: Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase.

PubMed ID: 2537962

DOI: 10.1093/nar/17.4.1766

PubMed ID: 2172092

Title: Isolation of cDNAs encoding subunit VIb of cytochrome c oxidase and steady-state levels of coxVIb mRNA in different tissues.

PubMed ID: 2172092

DOI: 10.1016/0378-1119(90)90237-l

PubMed ID: 1651883

Title: Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family.

PubMed ID: 1651883

DOI: 10.1016/0378-1119(91)90082-m

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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: 1647217

Title: Nucleotide sequence of the last exon of the gene for human cytochrome c oxidase subunit VIb and its flanking regions.

PubMed ID: 1647217

DOI: 10.1016/0167-4781(91)90027-j

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

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

PubMed ID: 18499082

Title: Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

PubMed ID: 18499082

DOI: 10.1016/j.ajhg.2008.05.002

PubMed ID: 24781756

Title: Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.

PubMed ID: 24781756

DOI: 10.1038/ejhg.2014.85

Sequence Information:

  • Length: 86
  • Mass: 10192
  • Checksum: 15C8B056491FB248
  • Sequence:
    • MAEDMETKIK NYKTAPFDSR FPNQNQTRNC WQNYLDFHRC QKAMTAKGGD ISVCEWYQRV 
YQSLCPTSWV TDWDEQRAEG TFPGKI

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.