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Protein

Protoheme IX farnesyltransferase, mitochondrial

Gene

COX10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Converts protoheme IX and farnesyl diphosphate to heme O.By similarity

Catalytic activityi

(2E,6E)-farnesyl diphosphate + protoheme IX = diphosphate + ferroheme o.By similarity

GO - Molecular functioni

  • farnesyltranstransferase activity Source: ProtInc
  • protoheme IX farnesyltransferase activity Source: Reactome

GO - Biological processi

  • cellular respiration Source: HGNC
  • heme a biosynthetic process Source: HGNC
  • heme biosynthetic process Source: Reactome
  • heme O biosynthetic process Source: InterPro
  • mitochondrial electron transport, cytochrome c to oxygen Source: HGNC
  • mitochondrial fission Source: Ensembl
  • proton transmembrane transport Source: GOC
  • respiratory chain complex IV assembly Source: HGNC

Keywordsi

Molecular functionTransferase
Biological processHeme biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS00191-MONOMER
BRENDAi2.5.1.B36 2681
ReactomeiR-HSA-189451 Heme biosynthesis

Names & Taxonomyi

Protein namesi
Recommended name:
Protoheme IX farnesyltransferase, mitochondrial (EC:2.5.1.141By similarity)
Alternative name(s):
Heme O synthase
Gene namesi
Name:COX10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000006695.10
HGNCiHGNC:2260 COX10
MIMi602125 gene
neXtProtiNX_Q12887

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei174 – 194HelicalSequence analysisAdd BLAST21
Transmembranei235 – 255HelicalSequence analysisAdd BLAST21
Transmembranei257 – 277HelicalSequence analysisAdd BLAST21
Transmembranei280 – 300HelicalSequence analysisAdd BLAST21
Transmembranei309 – 329HelicalSequence analysisAdd BLAST21
Transmembranei364 – 384HelicalSequence analysisAdd BLAST21
Transmembranei411 – 431HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex IV deficiency (MT-C4D)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:220110
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026562196T → K in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs104894555EnsemblClinVar.1
Natural variantiVAR_026563204N → K in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs104894560EnsemblClinVar.1
Natural variantiVAR_026564225P → L in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs104894556EnsemblClinVar.1
Natural variantiVAR_076181288G → R in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs753048807Ensembl.1
Natural variantiVAR_026565336D → G in MT-C4D; associated with Leigh syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894557EnsemblClinVar.1
Natural variantiVAR_026566336D → V in MT-C4D; associated with Leigh syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894557EnsemblClinVar.1
Natural variantiVAR_076182420P → L in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs773079584Ensembl.1
Leigh syndrome (LS)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:256000

Keywords - Diseasei

Disease mutation, Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNETi1352
MalaCardsiCOX10
MIMi220110 phenotype
256000 phenotype
OpenTargetsiENSG00000006695
Orphaneti254905 Isolated cytochrome C oxidase deficiency
PharmGKBiPA26776

Polymorphism and mutation databases

BioMutaiCOX10
DMDMi292495084

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000035923? – 443Protoheme IX farnesyltransferase, mitochondrial
Transit peptidei1 – ?MitochondrionSequence analysis

Proteomic databases

EPDiQ12887
MaxQBiQ12887
PaxDbiQ12887
PeptideAtlasiQ12887
PRIDEiQ12887
ProteomicsDBi59002

PTM databases

iPTMnetiQ12887
PhosphoSitePlusiQ12887

Expressioni

Gene expression databases

BgeeiENSG00000006695 Expressed in 200 organ(s), highest expression level in muscle tissue
CleanExiHS_COX10
ExpressionAtlasiQ12887 baseline and differential
GenevisibleiQ12887 HS

Organism-specific databases

HPAiHPA032005
HPA032006

Interactioni

Protein-protein interaction databases

BioGridi107745, 1 interactor
STRINGi9606.ENSP00000261643

Structurei

3D structure databases

ProteinModelPortaliQ12887
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UbiA prenyltransferase family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1380 Eukaryota
COG0109 LUCA
GeneTreeiENSGT00390000008408
HOGENOMiHOG000189335
HOVERGENiHBG051084
InParanoidiQ12887
KOiK02257
OMAiWQFPHFW
OrthoDBiEOG091G0F6B
PhylomeDBiQ12887
TreeFamiTF105071

Family and domain databases

CDDicd13957 PT_UbiA_Cox10, 1 hit
HAMAPiMF_00154 CyoE_CtaB, 1 hit
InterProiView protein in InterPro
IPR006369 Protohaem_IX_farnesylTrfase
IPR016315 Protohaem_IX_farnesylTrfase_mt
IPR000537 UbiA_prenyltransferase
IPR030470 UbiA_prenylTrfase_CS
PANTHERiPTHR43448 PTHR43448, 1 hit
PfamiView protein in Pfam
PF01040 UbiA, 1 hit
PIRSFiPIRSF001773 COX10, 1 hit
TIGRFAMsiTIGR01473 cyoE_ctaB, 1 hit
PROSITEiView protein in PROSITE
PS00943 UBIA, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q12887-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAASPHTLSS RLLTGCVGGS VWYLERRTIQ DSPHKFLHLL RNVNKQWITF
60 70 80 90 100
QHFSFLKRMY VTQLNRSHNQ QVRPKPEPVA SPFLEKTSSG QAKAEIYEMR
110 120 130 140 150
PLSPPSLSLS RKPNEKELIE LEPDSVIEDS IDVGKETKEE KRWKEMKLQV
160 170 180 190 200
YDLPGILARL SKIKLTALVV STTAAGFALA PGPFDWPCFL LTSVGTGLAS
210 220 230 240 250
CAANSINQFF EVPFDSNMNR TKNRPLVRGQ ISPLLAVSFA TCCAVPGVAI
260 270 280 290 300
LTLGVNPLTG ALGLFNIFLY TCCYTPLKRI SIANTWVGAV VGAIPPVMGW
310 320 330 340 350
TAATGSLDAG AFLLGGILYS WQFPHFNALS WGLREDYSRG GYCMMSVTHP
360 370 380 390 400
GLCRRVALRH CLALLVLSAA APVLDITTWT FPIMALPINA YISYLGFRFY
410 420 430 440
VDADRRSSRR LFFCSLWHLP LLLLLMLTCK RPSGGGDAGP PPS
Length:443
Mass (Da):48,910
Last modified:March 23, 2010 - v3
Checksum:iEC39E8D8966F4094
GO
Isoform 2 (identifier: Q12887-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-15: MAASPHTLSSRLLTG → MICQEFWLDYPKSNS
     16-207: Missing.

Note: No experimental confirmation available.
Show »
Length:251
Mass (Da):27,594
Checksum:i432213178F241F5F
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C101H7C101_HUMAN
Protoheme IX farnesyltransferase, m...
COX10
171Annotation score:
J3KSJ3J3KSJ3_HUMAN
Protoheme IX farnesyltransferase, m...
COX10
168Annotation score:
J3KRW4J3KRW4_HUMAN
Protoheme IX farnesyltransferase, m...
COX10
62Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti303A → T in AAA21148 (PubMed:8078902).Curated1
Sequence conflicti394Y → H in AAA21148 (PubMed:8078902).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05737128T → I. Corresponds to variant dbSNP:rs16948978EnsemblClinVar.1
Natural variantiVAR_05737262T → S. Corresponds to variant dbSNP:rs2230351EnsemblClinVar.1
Natural variantiVAR_05737397Y → C. Corresponds to variant dbSNP:rs16948986EnsemblClinVar.1
Natural variantiVAR_060233159R → Q5 PublicationsCorresponds to variant dbSNP:rs2072279EnsemblClinVar.1
Natural variantiVAR_026562196T → K in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs104894555EnsemblClinVar.1
Natural variantiVAR_026563204N → K in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs104894560EnsemblClinVar.1
Natural variantiVAR_026564225P → L in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs104894556EnsemblClinVar.1
Natural variantiVAR_064768258L → H1 PublicationCorresponds to variant dbSNP:rs587780911EnsemblClinVar.1
Natural variantiVAR_076181288G → R in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs753048807Ensembl.1
Natural variantiVAR_026565336D → G in MT-C4D; associated with Leigh syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894557EnsemblClinVar.1
Natural variantiVAR_026566336D → V in MT-C4D; associated with Leigh syndrome. 1 PublicationCorresponds to variant dbSNP:rs104894557EnsemblClinVar.1
Natural variantiVAR_060234340G → D1 PublicationCorresponds to variant dbSNP:rs1050214Ensembl.1
Natural variantiVAR_076182420P → L in MT-C4D. 1 PublicationCorresponds to variant dbSNP:rs773079584Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0568671 – 15MAASP…RLLTG → MICQEFWLDYPKSNS in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_05686816 – 207Missing in isoform 2. 1 PublicationAdd BLAST192

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U09466 mRNA Translation: AAA21148.1
U82010
, U82004, U82005, U82006, U82007, U82008, U82009 Genomic DNA Translation: AAC51330.1
AK295925 mRNA Translation: BAG58712.1
AK312718 mRNA Translation: BAG35592.1
BT006985 mRNA Translation: AAP35631.1
AC005224 Genomic DNA No translation available.
AC005389 Genomic DNA No translation available.
BC000060 mRNA Translation: AAH00060.1
BC006394 mRNA Translation: AAH06394.1
CCDSiCCDS11166.1 [Q12887-1]
PIRiI38603
RefSeqiNP_001294.2, NM_001303.3 [Q12887-1]
UniGeneiHs.462278
Hs.462281

Genome annotation databases

EnsembliENST00000261643; ENSP00000261643; ENSG00000006695 [Q12887-1]
GeneIDi1352
KEGGihsa:1352
UCSCiuc002gof.5 human [Q12887-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U09466 mRNA Translation: AAA21148.1
U82010
, U82004, U82005, U82006, U82007, U82008, U82009 Genomic DNA Translation: AAC51330.1
AK295925 mRNA Translation: BAG58712.1
AK312718 mRNA Translation: BAG35592.1
BT006985 mRNA Translation: AAP35631.1
AC005224 Genomic DNA No translation available.
AC005389 Genomic DNA No translation available.
BC000060 mRNA Translation: AAH00060.1
BC006394 mRNA Translation: AAH06394.1
CCDSiCCDS11166.1 [Q12887-1]
PIRiI38603
RefSeqiNP_001294.2, NM_001303.3 [Q12887-1]
UniGeneiHs.462278
Hs.462281

3D structure databases

ProteinModelPortaliQ12887
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107745, 1 interactor
STRINGi9606.ENSP00000261643

PTM databases

iPTMnetiQ12887
PhosphoSitePlusiQ12887

Polymorphism and mutation databases

BioMutaiCOX10
DMDMi292495084

Proteomic databases

EPDiQ12887
MaxQBiQ12887
PaxDbiQ12887
PeptideAtlasiQ12887
PRIDEiQ12887
ProteomicsDBi59002

Protocols and materials databases

DNASUi1352
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261643; ENSP00000261643; ENSG00000006695 [Q12887-1]
GeneIDi1352
KEGGihsa:1352
UCSCiuc002gof.5 human [Q12887-1]

Organism-specific databases

CTDi1352
DisGeNETi1352
EuPathDBiHostDB:ENSG00000006695.10
GeneCardsiCOX10
H-InvDBiHIX0013550
HGNCiHGNC:2260 COX10
HPAiHPA032005
HPA032006
MalaCardsiCOX10
MIMi220110 phenotype
256000 phenotype
602125 gene
neXtProtiNX_Q12887
OpenTargetsiENSG00000006695
Orphaneti254905 Isolated cytochrome C oxidase deficiency
PharmGKBiPA26776
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1380 Eukaryota
COG0109 LUCA
GeneTreeiENSGT00390000008408
HOGENOMiHOG000189335
HOVERGENiHBG051084
InParanoidiQ12887
KOiK02257
OMAiWQFPHFW
OrthoDBiEOG091G0F6B
PhylomeDBiQ12887
TreeFamiTF105071

Enzyme and pathway databases

BioCyciMetaCyc:HS00191-MONOMER
BRENDAi2.5.1.B36 2681
ReactomeiR-HSA-189451 Heme biosynthesis

Miscellaneous databases

ChiTaRSiCOX10 human
GeneWikiiCOX10
GenomeRNAii1352
PROiPR:Q12887
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000006695 Expressed in 200 organ(s), highest expression level in muscle tissue
CleanExiHS_COX10
ExpressionAtlasiQ12887 baseline and differential
GenevisibleiQ12887 HS

Family and domain databases

CDDicd13957 PT_UbiA_Cox10, 1 hit
HAMAPiMF_00154 CyoE_CtaB, 1 hit
InterProiView protein in InterPro
IPR006369 Protohaem_IX_farnesylTrfase
IPR016315 Protohaem_IX_farnesylTrfase_mt
IPR000537 UbiA_prenyltransferase
IPR030470 UbiA_prenylTrfase_CS
PANTHERiPTHR43448 PTHR43448, 1 hit
PfamiView protein in Pfam
PF01040 UbiA, 1 hit
PIRSFiPIRSF001773 COX10, 1 hit
TIGRFAMsiTIGR01473 cyoE_ctaB, 1 hit
PROSITEiView protein in PROSITE
PS00943 UBIA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCOX10_HUMAN
AccessioniPrimary (citable) accession number: Q12887
Secondary accession number(s): B2R6U5
, B4DJ50, O15334, Q969F7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: March 23, 2010
Last modified: November 7, 2018
This is version 169 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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