Details for: COX10

Gene ID: 1352

Symbol: COX10

Ensembl ID: ENSG00000006695

Description: cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10

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: 117.7150
    Cell Significance Index: -18.3100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 70.0196
    Cell Significance Index: -17.7600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 43.1123
    Cell Significance Index: -17.7600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 40.2454
    Cell Significance Index: -16.3500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 17.1460
    Cell Significance Index: -16.3700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.4061
    Cell Significance Index: -19.0000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.9951
    Cell Significance Index: -16.0600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.8682
    Cell Significance Index: -19.2100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.8129
    Cell Significance Index: 139.1200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.3104
    Cell Significance Index: 59.4000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.2150
    Cell Significance Index: 72.9400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0775
    Cell Significance Index: 216.1400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.0292
    Cell Significance Index: 27.4800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9202
    Cell Significance Index: 182.6300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7827
    Cell Significance Index: 22.5500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.7468
    Cell Significance Index: 28.2800
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.7147
    Cell Significance Index: 7.2100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.6702
    Cell Significance Index: 37.6100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.6002
    Cell Significance Index: 26.5500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5646
    Cell Significance Index: 202.5000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5516
    Cell Significance Index: 11.9500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.5431
    Cell Significance Index: 13.9600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5134
    Cell Significance Index: 50.7900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4992
    Cell Significance Index: 34.5300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4247
    Cell Significance Index: 26.7700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3858
    Cell Significance Index: 348.3400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3646
    Cell Significance Index: 18.9400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3564
    Cell Significance Index: 9.9600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3386
    Cell Significance Index: 4.6200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.3357
    Cell Significance Index: 5.0300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2615
    Cell Significance Index: 5.5700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.2545
    Cell Significance Index: 6.2100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2435
    Cell Significance Index: 6.5300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1990
    Cell Significance Index: 12.2300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1929
    Cell Significance Index: 12.9700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.1890
    Cell Significance Index: 2.7900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1883
    Cell Significance Index: 4.5200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.1716
    Cell Significance Index: 3.5600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1685
    Cell Significance Index: 3.6900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1616
    Cell Significance Index: 19.8800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1496
    Cell Significance Index: 28.4700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1472
    Cell Significance Index: 26.5300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1405
    Cell Significance Index: 4.0100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1216
    Cell Significance Index: 1.4500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1193
    Cell Significance Index: 14.0700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1133
    Cell Significance Index: 61.8800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1105
    Cell Significance Index: 48.8500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1087
    Cell Significance Index: 2.9600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0929
    Cell Significance Index: 4.3300
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0914
    Cell Significance Index: 1.3100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0391
    Cell Significance Index: 0.6700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0334
    Cell Significance Index: 4.5900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0327
    Cell Significance Index: 20.7700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0281
    Cell Significance Index: 12.7500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0150
    Cell Significance Index: 28.2000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0098
    Cell Significance Index: 0.1700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0071
    Cell Significance Index: 13.1500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0069
    Cell Significance Index: 1.1700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0003
    Cell Significance Index: 0.4000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0001
    Cell Significance Index: -0.0100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0039
    Cell Significance Index: -2.8400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0042
    Cell Significance Index: -5.7200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0066
    Cell Significance Index: -0.2100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0078
    Cell Significance Index: -0.2800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0113
    Cell Significance Index: -8.3800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0138
    Cell Significance Index: -2.0100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0148
    Cell Significance Index: -11.2300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0165
    Cell Significance Index: -0.3500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0220
    Cell Significance Index: -1.0400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0273
    Cell Significance Index: -1.9300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0281
    Cell Significance Index: -15.8200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0311
    Cell Significance Index: -19.3900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0457
    Cell Significance Index: -4.6700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0467
    Cell Significance Index: -5.3500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0566
    Cell Significance Index: -16.2800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0632
    Cell Significance Index: -1.3500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0653
    Cell Significance Index: -1.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0674
    Cell Significance Index: -7.8600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0680
    Cell Significance Index: -3.5400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0827
    Cell Significance Index: -6.1600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0873
    Cell Significance Index: -18.3800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0950
    Cell Significance Index: -12.1800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1170
    Cell Significance Index: -7.5500
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.1370
    Cell Significance Index: -1.9700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1410
    Cell Significance Index: -2.3600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1496
    Cell Significance Index: -2.9200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1680
    Cell Significance Index: -17.4900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1910
    Cell Significance Index: -15.1300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1927
    Cell Significance Index: -2.7600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2005
    Cell Significance Index: -2.9600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2193
    Cell Significance Index: -2.2700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2194
    Cell Significance Index: -11.5200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2444
    Cell Significance Index: -8.0000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2449
    Cell Significance Index: -8.5100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2458
    Cell Significance Index: -7.8300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2493
    Cell Significance Index: -4.9300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2495
    Cell Significance Index: -6.5600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2604
    Cell Significance Index: -6.5100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2650
    Cell Significance Index: -5.3200
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.2896
    Cell Significance Index: -1.7500

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. **Function:** COX10 is responsible for the transfer of farnesyl groups to protoheme IX, a critical step in the biosynthesis of heme. This process is essential for the assembly of cytochrome c oxidase, a complex enzyme involved in the electron transport chain. 2. **Expression:** COX10 is highly expressed in various cell types, including germ cells, neurons, and cardiac myocytes. Its expression is also found in specific subpopulations of neurons, such as GABAergic cortical interneurons. 3. **Localization:** COX10 is localized to the mitochondrial inner membrane, where it plays a crucial role in the assembly of cytochrome c oxidase. **Pathways and Functions:** 1. **Heme Biosynthesis:** COX10 is involved in the biosynthesis of heme, a vital component of various proteins and enzymes. The gene's product is essential for the transfer of farnesyl groups to protoheme IX, which is a critical step in the assembly of cytochrome c oxidase. 2. **Mitochondrial Function:** COX10 plays a significant role in maintaining mitochondrial function, which is essential for cellular energy production. The gene's product is involved in the assembly of cytochrome c oxidase, a complex enzyme involved in the electron transport chain. 3. **Aerobic Respiration:** COX10 is involved in the electron transport chain, where it plays a critical role in the assembly of cytochrome c oxidase. This complex enzyme is essential for the generation of ATP during aerobic respiration. **Clinical Significance:** 1. **Mitochondrial Diseases:** Mutations in the COX10 gene have been associated with mitochondrial diseases, such as Leber's hereditary optic neuropathy (LHON) and Kearns-Sayre syndrome (KSS). These diseases are characterized by impaired mitochondrial function, which can lead to a range of symptoms, including vision loss and muscle weakness. 2. **Neurological Disorders:** COX10 has been implicated in various neurological disorders, including Alzheimer's disease and Parkinson's disease. The gene's product is involved in the regulation of mitochondrial function, which is essential for maintaining neuronal health. 3. **Cardiovascular Disease:** COX10 has also been linked to cardiovascular disease, including heart failure and arrhythmias. The gene's product is involved in the regulation of mitochondrial function, which is essential for maintaining cardiac health. In conclusion, COX10 is a critical gene involved in the biosynthesis of heme and the maintenance of mitochondrial function. Its product plays a significant role in the assembly of cytochrome c oxidase, a complex enzyme involved in the electron transport chain. Mutations in the COX10 gene have been associated with various clinical disorders, highlighting the importance of this gene in maintaining cellular health. Further research is needed to fully understand the role of COX10 in human disease and to develop effective therapeutic strategies for the treatment of mitochondrial and neurological disorders.

Genular Protein ID: 4179774580

Symbol: COX10_HUMAN

Name: Protoheme IX farnesyltransferase, mitochondrial

UniProtKB Accession Codes:

Q12887 B2R6U5 B4DJ50 O15334 Q969F7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 15 Ensembl 2 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 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 1 RefSeq 1 Rhea 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8078902

Title: Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant.

PubMed ID: 8078902

DOI: 10.1073/pnas.91.18.8452

PubMed ID: 9177788

Title: Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.

PubMed ID: 9177788

DOI: 10.1006/geno.1997.4711

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

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: 10767350

Title: A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency.

PubMed ID: 10767350

DOI: 10.1093/hmg/9.8.1245

PubMed ID: 12928484

Title: Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

PubMed ID: 12928484

DOI: 10.1093/hmg/ddg284

PubMed ID: 21248752

Title: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.

PubMed ID: 21248752

DOI: 10.1038/nature09639

PubMed ID: 26741492

Title: A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies.

PubMed ID: 26741492

DOI: 10.1371/journal.pgen.1005679

Sequence Information:

  • Length: 443
  • Mass: 48910
  • Checksum: EC39E8D8966F4094
  • Sequence:
    • MAASPHTLSS RLLTGCVGGS VWYLERRTIQ DSPHKFLHLL RNVNKQWITF QHFSFLKRMY 
VTQLNRSHNQ QVRPKPEPVA SPFLEKTSSG QAKAEIYEMR PLSPPSLSLS RKPNEKELIE 
LEPDSVIEDS IDVGKETKEE KRWKEMKLQV YDLPGILARL SKIKLTALVV STTAAGFALA 
PGPFDWPCFL LTSVGTGLAS CAANSINQFF EVPFDSNMNR TKNRPLVRGQ ISPLLAVSFA 
TCCAVPGVAI LTLGVNPLTG ALGLFNIFLY TCCYTPLKRI SIANTWVGAV VGAIPPVMGW 
TAATGSLDAG AFLLGGILYS WQFPHFNALS WGLREDYSRG GYCMMSVTHP GLCRRVALRH 
CLALLVLSAA APVLDITTWT FPIMALPINA YISYLGFRFY VDADRRSSRR LFFCSLWHLP 
LLLLLMLTCK RPSGGGDAGP PPS

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.