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Protein

Protoheme IX farnesyltransferase, mitochondrial

Gene

COX10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

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

GO - Biological processi

  • aerobic respiration Source: Ensembl
  • cellular respiration Source: HGNC
  • heme a biosynthetic process Source: HGNC
  • heme biosynthetic process Source: Reactome
  • heme O biosynthetic process Source: InterPro
  • hydrogen ion transmembrane transport Source: GOC
  • mitochondrial electron transport, cytochrome c to oxygen Source: HGNC
  • mitochondrial fission Source: Ensembl
  • respiratory chain complex IV assembly Source: HGNC
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Heme biosynthesis

Enzyme and pathway databases

BioCyciZFISH: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.-)
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

HGNCiHGNC:2260. COX10.

Subcellular locationi

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

GO - Cellular componenti

  • cytochrome complex Source: BHF-UCL
  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial inner membrane Source: Reactome
  • mitochondrion Source: HGNC
Complete GO annotation...

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 rs104894555dbSNPEnsembl.1
Natural variantiVAR_026563204N → K in MT-C4D. 1 PublicationCorresponds to variant rs104894560dbSNPEnsembl.1
Natural variantiVAR_026564225P → L in MT-C4D. 1 PublicationCorresponds to variant rs104894556dbSNPEnsembl.1
Natural variantiVAR_076181288G → R in MT-C4D. 1 PublicationCorresponds to variant rs753048807dbSNPEnsembl.1
Natural variantiVAR_026565336D → G in MT-C4D; associated with Leigh syndrome. 1 PublicationCorresponds to variant rs104894557dbSNPEnsembl.1
Natural variantiVAR_026566336D → V in MT-C4D; associated with Leigh syndrome. 1 PublicationCorresponds to variant rs104894557dbSNPEnsembl.1
Natural variantiVAR_076182420P → L in MT-C4D. 1 PublicationCorresponds to variant rs773079584dbSNPEnsembl.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

Organism-specific databases

DisGeNETi1352.
MalaCardsiCOX10.
MIMi220110. phenotype.
256000. phenotype.
OpenTargetsiENSG00000006695.
Orphaneti1561. Fatal infantile cytochrome C oxidase deficiency.
70474. Leigh syndrome with cardiomyopathy.
255241. Leigh syndrome with leukodystrophy.
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.

PTM databases

iPTMnetiQ12887.
PhosphoSitePlusiQ12887.

Expressioni

Gene expression databases

BgeeiENSG00000006695.
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.
OMAiMGWAGCA.
OrthoDBiEOG091G0F6B.
PhylomeDBiQ12887.
TreeFamiTF105071.

Family and domain databases

CDDicd13957. PT_UbiA_Cox10. 1 hit.
HAMAPiMF_00154. CyoE_CtaB. 1 hit.
InterProiIPR006369. Protohaem_IX_farnesylTrfase.
IPR016315. Protohaem_IX_farnesylTrfase_mt.
IPR000537. UbiA_prenyltransferase.
IPR030470. UbiA_prenylTrfase_CS.
[Graphical view]
PfamiPF01040. UbiA. 1 hit.
[Graphical view]
PIRSFiPIRSF001773. COX10. 1 hit.
TIGRFAMsiTIGR01473. cyoE_ctaB. 1 hit.
PROSITEiPS00943. UBIA. 1 hit.
[Graphical view]

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

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

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 rs16948978dbSNPEnsembl.1
Natural variantiVAR_05737262T → S.Corresponds to variant rs2230351dbSNPEnsembl.1
Natural variantiVAR_05737397Y → C.Corresponds to variant rs16948986dbSNPEnsembl.1
Natural variantiVAR_060233159R → Q.5 PublicationsCorresponds to variant rs8077302dbSNPEnsembl.1
Natural variantiVAR_026562196T → K in MT-C4D. 1 PublicationCorresponds to variant rs104894555dbSNPEnsembl.1
Natural variantiVAR_026563204N → K in MT-C4D. 1 PublicationCorresponds to variant rs104894560dbSNPEnsembl.1
Natural variantiVAR_026564225P → L in MT-C4D. 1 PublicationCorresponds to variant rs104894556dbSNPEnsembl.1
Natural variantiVAR_064768258L → H.1 PublicationCorresponds to variant rs587780911dbSNPEnsembl.1
Natural variantiVAR_076181288G → R in MT-C4D. 1 PublicationCorresponds to variant rs753048807dbSNPEnsembl.1
Natural variantiVAR_026565336D → G in MT-C4D; associated with Leigh syndrome. 1 PublicationCorresponds to variant rs104894557dbSNPEnsembl.1
Natural variantiVAR_026566336D → V in MT-C4D; associated with Leigh syndrome. 1 PublicationCorresponds to variant rs104894557dbSNPEnsembl.1
Natural variantiVAR_060234340G → D.1 PublicationCorresponds to variant rs1050214dbSNPEnsembl.1
Natural variantiVAR_076182420P → L in MT-C4D. 1 PublicationCorresponds to variant rs773079584dbSNPEnsembl.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

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.

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.
GeneCardsiCOX10.
H-InvDBHIX0013550.
HGNCiHGNC:2260. COX10.
HPAiHPA032005.
HPA032006.
MalaCardsiCOX10.
MIMi220110. phenotype.
256000. phenotype.
602125. gene.
neXtProtiNX_Q12887.
OpenTargetsiENSG00000006695.
Orphaneti1561. Fatal infantile cytochrome C oxidase deficiency.
70474. Leigh syndrome with cardiomyopathy.
255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA26776.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiCOX10. human.
GeneWikiiCOX10.
GenomeRNAii1352.
PROiQ12887.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000006695.
CleanExiHS_COX10.
ExpressionAtlasiQ12887. baseline and differential.
GenevisibleiQ12887. HS.

Family and domain databases

CDDicd13957. PT_UbiA_Cox10. 1 hit.
HAMAPiMF_00154. CyoE_CtaB. 1 hit.
InterProiIPR006369. Protohaem_IX_farnesylTrfase.
IPR016315. Protohaem_IX_farnesylTrfase_mt.
IPR000537. UbiA_prenyltransferase.
IPR030470. UbiA_prenylTrfase_CS.
[Graphical view]
PfamiPF01040. UbiA. 1 hit.
[Graphical view]
PIRSFiPIRSF001773. COX10. 1 hit.
TIGRFAMsiTIGR01473. cyoE_ctaB. 1 hit.
PROSITEiPS00943. UBIA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOX10_HUMAN
AccessioniPrimary (citable) accession number: Q12887
Secondary accession number(s): B2R6U5
, B4DJ50, O15334, Q969F7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: March 23, 2010
Last modified: November 2, 2016
This is version 155 of the entry and version 3 of the sequence. [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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.