Details for: COX17

Gene ID: 10063

Symbol: COX17

Ensembl ID: ENSG00000138495

Description: cytochrome c oxidase copper chaperone COX17

Associated with

Cells (max top 100)

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

  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 2.97
    Marker Score: 1,025
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.91
    Marker Score: 8,314
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.76
    Marker Score: 4,582
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 2.75
    Marker Score: 17,557
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 2.7
    Marker Score: 4,340
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 2.64
    Marker Score: 22,928
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 2.61
    Marker Score: 17,000
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 2.51
    Marker Score: 1,339
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 2.51
    Marker Score: 64,224
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 2.44
    Marker Score: 973
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.42
    Marker Score: 83,879
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.41
    Marker Score: 11,553
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.39
    Marker Score: 6,025
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 2.36
    Marker Score: 2,106
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.31
    Marker Score: 689
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 2.3
    Marker Score: 12,101
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 2.29
    Marker Score: 2,194
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 2.29
    Marker Score: 753
  • Cell Name: blood cell (CL0000081)
    Fold Change: 2.24
    Marker Score: 26,080
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.23
    Marker Score: 6,999
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.23
    Marker Score: 6,611
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 2.23
    Marker Score: 4,066
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 2.23
    Marker Score: 3,541
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.22
    Marker Score: 5,950
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 2.2
    Marker Score: 2,654
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 2.17
    Marker Score: 2,259
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 2.16
    Marker Score: 806
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.15
    Marker Score: 2,299
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 2.15
    Marker Score: 28,897
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 2.15
    Marker Score: 1,020
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.15
    Marker Score: 8,281
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.14
    Marker Score: 4,342
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 2.12
    Marker Score: 4,817
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.11
    Marker Score: 1,663
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.1
    Marker Score: 2,537
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.09
    Marker Score: 4,768
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 2.08
    Marker Score: 1,481
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 2.08
    Marker Score: 1,960
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 2.07
    Marker Score: 2,328
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 2.07
    Marker Score: 1,618
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 2.06
    Marker Score: 3,915
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 2.06
    Marker Score: 800
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.06
    Marker Score: 3,171
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 2.05
    Marker Score: 1,064
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 2.05
    Marker Score: 2,173
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 2.05
    Marker Score: 2,963
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 2.04
    Marker Score: 855
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 2.04
    Marker Score: 2,066
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 2.03
    Marker Score: 5,614
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 2.03
    Marker Score: 20,064
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 2.02
    Marker Score: 718
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 2.02
    Marker Score: 2,310
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 2.01
    Marker Score: 2,889
  • Cell Name: basophil (CL0000767)
    Fold Change: 2
    Marker Score: 952
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 2
    Marker Score: 1,253
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.99
    Marker Score: 802
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.97
    Marker Score: 3,944
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.94
    Marker Score: 6,872
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.93
    Marker Score: 107,915
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.93
    Marker Score: 4,713
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.93
    Marker Score: 3,758
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.92
    Marker Score: 2,711
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.91
    Marker Score: 430
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.91
    Marker Score: 1,909
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 1.87
    Marker Score: 764
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 1.87
    Marker Score: 1,608
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.87
    Marker Score: 446
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.86
    Marker Score: 2,746
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 1.86
    Marker Score: 2,006
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1.86
    Marker Score: 990
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.86
    Marker Score: 589
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 1.85
    Marker Score: 1,125
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.85
    Marker Score: 912
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.85
    Marker Score: 3,221
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.84
    Marker Score: 1,012
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 1.83
    Marker Score: 1,384
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 1.82
    Marker Score: 1,633
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.81
    Marker Score: 2,119
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.81
    Marker Score: 2,406
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.8
    Marker Score: 4,891
  • Cell Name: centroblast (CL0009112)
    Fold Change: 1.8
    Marker Score: 886
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 1.79
    Marker Score: 488
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 1.78
    Marker Score: 1,519
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.78
    Marker Score: 11,384
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 1.78
    Marker Score: 655
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.77
    Marker Score: 6,957
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.77
    Marker Score: 6,078
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.77
    Marker Score: 3,321
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.77
    Marker Score: 60,065
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.76
    Marker Score: 506
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.75
    Marker Score: 6,493
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 1.75
    Marker Score: 4,229
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 1.74
    Marker Score: 1,367
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.74
    Marker Score: 13,575
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.74
    Marker Score: 2,846
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 1.73
    Marker Score: 718
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 1.73
    Marker Score: 1,061
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 1.73
    Marker Score: 1,156
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 1.72
    Marker Score: 749
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.72
    Marker Score: 1,734

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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. **Copper Chaperone Function:** COX17 acts as a copper chaperone, delivering copper ions to cytochrome c oxidase, ensuring its proper assembly and function. 2. **Mitochondrial Localization:** COX17 is primarily localized in the mitochondrial intermembrane space, where it interacts with cytochrome c oxidase. 3. **Expression in Specific Cells:** COX17 is highly expressed in cells with high energy demands, such as retinal rod cells, kidney collecting duct intercalated cells, and alveolar macrophages. 4. **Copper Ion Binding:** COX17 binds copper ions, which are essential for the functioning of cytochrome c oxidase. **Pathways and Functions:** 1. **Mitochondrial Protein Import:** COX17 facilitates the import of cytochrome c oxidase into the mitochondria, ensuring its proper assembly and function. 2. **Cytochrome-c Oxidase Assembly:** COX17 delivers copper ions to cytochrome c oxidase, enabling its assembly and activation. 3. **Energy Production:** COX17 plays a critical role in the production of ATP through the mitochondrial respiratory chain. 4. **Regulation of Cell Proliferation:** Dysregulation of COX17 has been linked to impaired cell proliferation, highlighting its importance in cellular homeostasis. **Clinical Significance:** 1. **Mitochondrial Diseases:** Mutations in COX17 have been associated with mitochondrial diseases, such as Leber's hereditary optic neuropathy (LHON), which can lead to progressive vision loss. 2. **Neurodegenerative Disorders:** Dysregulation of COX17 has been implicated in neurodegenerative disorders, including Alzheimer's disease and Parkinson's disease. 3. **Cancer:** Impaired COX17 function has been linked to cancer development and progression, highlighting its potential as a therapeutic target. 4. **Cardiovascular Diseases:** COX17 dysregulation has been associated with cardiovascular diseases, including hypertension and atherosclerosis. In conclusion, COX17 plays a crucial role in maintaining mitochondrial function and overall cellular homeostasis. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in human health. Further research is necessary to fully understand the mechanisms underlying COX17 dysfunction and to explore its potential as a therapeutic target.

Genular Protein ID: 4064521875

Symbol: COX17_HUMAN

Name: Cytochrome c oxidase copper chaperone

UniProtKB Accession Codes:

Q14061 B2R5D2 D3DN84 Q3MHD6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 2 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 1 EMBL 12 EPD 1 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 PANTHER 2 PDB 10 PDBsum 4 PIR 1 PRO 1 PROSITE 1 PROSITE-ProRule 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 1 RefSeq 1 SAM 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9050918

Title: Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment.

PubMed ID: 9050918

DOI: 10.1007/s004390050367

PubMed ID: 10982038

Title: Characterization and localization of human COX17, a gene involved in mitochondrial copper transport.

PubMed ID: 10982038

DOI: 10.1007/s004390000339

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 19393246

Title: Knockdown of human COX17 affects assembly and supramolecular organization of cytochrome c oxidase.

PubMed ID: 19393246

DOI: 10.1016/j.jmb.2009.04.034

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22356826

Title: Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.

PubMed ID: 22356826

DOI: 10.1186/gb-2012-13-2-r12

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 18093982

Title: A structural-dynamical characterization of human Cox17.

PubMed ID: 18093982

DOI: 10.1074/jbc.m708016200

PubMed ID: 21059946

Title: Molecular chaperone function of Mia40 triggers consecutive induced folding steps of the substrate in mitochondrial protein import.

PubMed ID: 21059946

DOI: 10.1073/pnas.1010095107

PubMed ID: 21816817

Title: Functional role of two interhelical disulfide bonds in human Cox17 protein from a structural perspective.

PubMed ID: 21816817

DOI: 10.1074/jbc.m111.246223

Sequence Information:

  • Length: 63
  • Mass: 6915
  • Checksum: E97090F939E78276
  • Sequence:
    • MPGLVDSNPA PPESQEKKPL KPCCACPETK KARDACIIEK GEEHCGHLIE AHKECMRALG 
FKI

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.