Free for academic non-profit institutions. Other users need a Commercial license

Aliases for COX10 Gene

Aliases for COX10 Gene

  • COX10, Heme A:Farnesyltransferase Cytochrome C Oxidase Assembly Factor 2 3 5
  • Heme O Synthase 2 4
  • COX10 Homolog, Cytochrome C Oxidase Assembly Protein, Heme A: Farnesyltransferase (Yeast) 2
  • Cytochrome C Oxidase Assembly Homolog 10 (Yeast) 2
  • Protoheme IX Farnesyltransferase, Mitochondrial 2
  • EC 2.5.1.- 4

External Ids for COX10 Gene

Previous GeneCards Identifiers for COX10 Gene

  • GC17P014338
  • GC17P015087
  • GC17P013915
  • GC17P014173
  • GC17P013913
  • GC17P013972

Summaries for COX10 Gene

Entrez Gene Summary for COX10 Gene

  • Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]

GeneCards Summary for COX10 Gene

COX10 (COX10, Heme A:Farnesyltransferase Cytochrome C Oxidase Assembly Factor) is a Protein Coding gene. Diseases associated with COX10 include Mitochondrial Complex Iv Deficiency and Leigh Syndrome. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity and prenyltransferase activity.

UniProtKB/Swiss-Prot for COX10 Gene

  • Converts protoheme IX and farnesyl diphosphate to heme O.

Gene Wiki entry for COX10 Gene

Additional gene information for COX10 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX10 Gene

Genomics for COX10 Gene

GeneHancer (GH) Regulatory Elements for COX10 Gene

Promoters and enhancers for COX10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I014068 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.6 637 2.9 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 E2F8 ZNF143 COX10 COX10-AS1 CDRT15P1 CDRT15 ENSG00000252305
GH17I014196 Enhancer 1.2 FANTOM5 Ensembl ENCODE 17.3 +130.9 130867 8.4 HDAC1 CTCF KLF1 ZSCAN4 ZNF133 KLF17 ZNF121 ZFHX2 GATA3 CTBP1 CDRT15 COX10 CDRT15P1 ENSG00000231595 HS3ST3B1 ENSG00000252305
GH17I014098 Enhancer 0.5 ENCODE 18.2 +29.0 29017 0.2 SMARCE1 ZNF217 DPF2 CEBPG COX10 COX10-AS1 ENSG00000252305
GH17I014208 Enhancer 0.9 ENCODE 10 +140.0 140033 1.8 FOXA2 ARID4B ETS1 YY1 TCF12 ZNF766 ATF7 ZHX2 REST NFIL3 ENSG00000231595 CDRT15 COX10 CDRT15P1 HS3ST3B1 ENSG00000252305
GH17I014193 Enhancer 0.4 Ensembl 15.5 +123.8 123799 0.4 SMARCA5 ZNF217 DPF2 COX10 CDRT15 ENSG00000231595 ENSG00000252305
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COX10 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COX10 Gene

Genomic Locations for COX10 Gene
chr17:14,069,402-14,217,922
(GRCh38/hg38)
Size:
148,521 bases
Orientation:
Plus strand
chr17:13,972,719-14,111,996
(GRCh37/hg19)

Genomic View for COX10 Gene

Genes around COX10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX10 Gene

Proteins for COX10 Gene

  • Protein details for COX10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12887-COX10_HUMAN
    Recommended name:
    Protoheme IX farnesyltransferase, mitochondrial
    Protein Accession:
    Q12887
    Secondary Accessions:
    • B2R6U5
    • B4DJ50
    • O15334
    • Q969F7

    Protein attributes for COX10 Gene

    Size:
    443 amino acids
    Molecular mass:
    48910 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for COX10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COX10 Gene

Post-translational modifications for COX10 Gene

No Post-translational modifications

Other Protein References for COX10 Gene

No data available for DME Specific Peptides for COX10 Gene

Domains & Families for COX10 Gene

Gene Families for COX10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

Q12887

UniProtKB/Swiss-Prot:

COX10_HUMAN :
  • Belongs to the UbiA prenyltransferase family.
Family:
  • Belongs to the UbiA prenyltransferase family.
genes like me logo Genes that share domains with COX10: view

Function for COX10 Gene

Molecular function for COX10 Gene

GENATLAS Biochemistry:
heme A
UniProtKB/Swiss-Prot Function:
Converts protoheme IX and farnesyl diphosphate to heme O.

Enzyme Numbers (IUBMB) for COX10 Gene

Phenotypes From GWAS Catalog for COX10 Gene

Gene Ontology (GO) - Molecular Function for COX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 contributes_to cytochrome-c oxidase activity IMP 12928484
GO:0004311 farnesyltranstransferase activity TAS 8078902
GO:0008495 protoheme IX farnesyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016765 transferase activity, transferring alkyl or aryl (other than methyl) groups IEA --
genes like me logo Genes that share ontologies with COX10: view
genes like me logo Genes that share phenotypes with COX10: view

Human Phenotype Ontology for COX10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for COX10 Gene

miRTarBase miRNAs that target COX10

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for COX10 Gene

Localization for COX10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX10 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COX10 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA,IC --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with COX10: view

Pathways & Interactions for COX10 Gene

genes like me logo Genes that share pathways with COX10: view

Pathways by source for COX10 Gene

1 Qiagen pathway for COX10 Gene

Gene Ontology (GO) - Biological Process for COX10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission IEA --
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen IC 12928484
GO:0006783 heme biosynthetic process TAS --
GO:0006784 heme a biosynthetic process IMP,IEA 12928484
GO:0007005 mitochondrion organization IEA --
genes like me logo Genes that share ontologies with COX10: view

No data available for SIGNOR curated interactions for COX10 Gene

Drugs & Compounds for COX10 Gene

(2) Drugs for COX10 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
heme Pharma Agonist 0

(3) Additional Compounds for COX10 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Farnesyl pyrophosphate
  • (2E,6E)-Farnesyl diphosphate
  • (2E,6E)-Farnesyl pyrophosphate
  • (all-E)-Farnesyl diphosphate
  • (E,E)-Farnesyl diphosphate
  • (E,E)-Farnesyl pyrophosphate
13058-04-3
Heme O
  • Heme O
137397-56-9
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with COX10: view

Transcripts for COX10 Gene

Unigene Clusters for COX10 Gene

Cytochrome c oxidase assembly homolog 10 (yeast):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COX10 Gene

No ASD Table

Relevant External Links for COX10 Gene

GeneLoc Exon Structure for
COX10
ECgene alternative splicing isoforms for
COX10

Expression for COX10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COX10 Gene

mRNA differential expression in normal tissues according to GTEx for COX10 Gene

This gene is overexpressed in Muscle - Skeletal (x5.8) and Heart - Left Ventricle (x4.7).

Protein differential expression in normal tissues from HIPED for COX10 Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COX10 Gene



Protein tissue co-expression partners for COX10 Gene

NURSA nuclear receptor signaling pathways regulating expression of COX10 Gene:

COX10

SOURCE GeneReport for Unigene cluster for COX10 Gene:

Hs.462278

Evidence on tissue expression from TISSUES for COX10 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COX10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • bronchus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with COX10: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for COX10 Gene

Orthologs for COX10 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for COX10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX10 33 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia COX10 33 34
  • 86.1 (n)
cow
(Bos Taurus)
Mammalia COX10 33 34
  • 84.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COX10 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cox10 33 16 34
  • 81.37 (n)
rat
(Rattus norvegicus)
Mammalia LOC691853 33
  • 81.27 (n)
oppossum
(Monodelphis domestica)
Mammalia COX10 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX10 33 34
  • 72.79 (n)
lizard
(Anolis carolinensis)
Reptilia COX10 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cox10 33
  • 68.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3727 33
zebrafish
(Danio rerio)
Actinopterygii cox10 33 34
  • 62.88 (n)
wufb18a03 33
fruit fly
(Drosophila melanogaster)
Insecta CG5037 35 33 34
  • 60.43 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008884 33
  • 57.96 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y46G5A.2 33
  • 53.53 (n)
Y46G5A.2 35
  • 52 (a)
cox-10 34
  • 39 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX10 34 36
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9411 34
  • 41 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10722 33
Species where no ortholog for COX10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COX10 Gene

ENSEMBL:
Gene Tree for COX10 (if available)
TreeFam:
Gene Tree for COX10 (if available)

Paralogs for COX10 Gene

Pseudogenes.org Pseudogenes for COX10 Gene

genes like me logo Genes that share paralogs with COX10: view

No data available for Paralogs for COX10 Gene

Variants for COX10 Gene

Sequence variations from dbSNP and Humsavar for COX10 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1015322783 uncertain-significance, Leigh syndrome, Cytochrome-c oxidase deficiency 14,208,036(+) C/T 3_prime_UTR_variant
rs1045703166 uncertain-significance, Cytochrome-c oxidase deficiency, Leigh syndrome 14,207,841(+) C/G/T 3_prime_UTR_variant
rs104894555 pathogenic, Cytochrome-c oxidase deficiency, Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] 14,102,205(+) C/A coding_sequence_variant, missense_variant
rs104894556 pathogenic, Cytochrome-c oxidase deficiency, Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] 14,159,926(+) C/T coding_sequence_variant, missense_variant
rs104894557 pathogenic, Leigh syndrome due to mitochondrial complex IV deficiency, Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110], Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] 14,206,888(+) A/G/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for COX10 Gene

Variant ID Type Subtype PubMed ID
dgv561e214 CNV loss 21293372
esv2657336 CNV deletion 23128226
esv2675659 CNV deletion 23128226
esv2758675 CNV loss 17122850
esv3572420 CNV gain 25503493
esv3582535 CNV loss 25503493
esv3640012 CNV loss 21293372
esv3640013 CNV gain 21293372
esv3640014 CNV loss 21293372
esv3640015 CNV gain 21293372
esv3640018 CNV loss 21293372
esv3640019 CNV loss 21293372
nsv1055511 CNV loss 25217958
nsv1055625 CNV loss 25217958
nsv1056267 CNV gain 25217958
nsv1064801 CNV loss 25217958
nsv1065416 CNV gain 25217958
nsv1067378 CNV loss 25217958
nsv436740 CNV insertion 17901297
nsv510699 CNV deletion 20534489
nsv574377 CNV gain 21841781
nsv9495 CNV loss 18304495
nsv960413 CNV duplication 23825009
nsv960414 CNV duplication 23825009
nsv960415 CNV duplication 23825009

Variation tolerance for COX10 Gene

Residual Variation Intolerance Score: 81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.92; 97.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX10 Gene

Human Gene Mutation Database (HGMD)
COX10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX10 Gene

Disorders for COX10 Gene

MalaCards: The human disease database

(9) MalaCards diseases for COX10 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
leigh syndrome
  • ls
fatal infantile encephalocardiomyopathy
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
neuropathy, hereditary, with liability to pressure palsies
  • hnpp
charcot-marie-tooth disease, demyelinating, type 1a
  • cmt1a
- elite association - COSMIC cancer census association via MalaCards
Search COX10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COX10_HUMAN
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269 PubMed:10767350, ECO:0000269 PubMed:12928484, ECO:0000269 PubMed:26741492}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COX10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COX10: view

No data available for Genatlas for COX10 Gene

Publications for COX10 Gene

  1. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. (PMID: 9177788) Murakami T … Lupski JR (Genomics 1997) 2 3 4 22 58
  2. 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. (PMID: 12928484) Antonicka H … Shoubridge EA (Human molecular genetics 2003) 2 3 4 58
  3. A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. (PMID: 10767350) Valnot I … Rötig A (Human molecular genetics 2000) 3 4 22 58
  4. Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant. (PMID: 8078902) Glerum DM … Tzagoloff A (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 22 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for COX10 Gene

Sources for COX10 Gene

Content
Loading form....