Gene/Proteome Database (LMPD)

LMPD ID
LMP002235
Gene ID
1352
Species
Homo sapiens (Human)
Gene Name
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
Gene Symbol
COX10
Synonyms
-
Alternate Names
protoheme IX farnesyltransferase, mitochondrial; heme O synthase; heme A: farnesyltransferase; cytochrome c oxidase subunit X; cytochrome c oxidase assembly protein; cytochrome c oxidase assembly homolog 10; COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase
Chromosome
17
Map Location
17p12
EC Number
2.5.1.-
Summary
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]
Orthologs
View orthologs and multiple alignments for COX10

Proteins

protoheme IX farnesyltransferase, mitochondrial
Refseq ID NP_001294
Protein GI 17921982
UniProt ID Q12887
mRNA ID NM_001303
Length 443
RefSeq Status REVIEWED
MAASPHTLSSRLLTGCVGGSVWYLERRTIQDSPHKFLHLLRNVNKQWITFQHFSFLKRMYVTQLNRSHNQQVRPKPEPVASPFLEKTSSGQAKAEIYEMRPLSPPSLSLSRKPNEKELIELEPDSVIEDSIDVGKETKEEKRWKEMKLQVYDLPGILARLSKIKLTALVVSTTAAGFALAPGPFDWPCFLLTSVGTGLASCAANSINQFFEVPFDSNMNRTKNRPLVRGQISPLLAVSFATCCAVPGVAILTLGVNPLTGALGLFNIFLYTCCYTPLKRISIANTWVGAVVGAIPPVMGWTAATGSLDAGAFLLGGILYSWQFPHFNALSWGLREDYSRGGYCMMSVTHPGLCRRVALRHCLALLVLSAAAPVLDITTWTFPIMALPINAYISYLGFRFYVDADRRSSRRLFFCSLWHLPLLLLLMLTCKRPSGGGDAGPPPS

Gene Information

Entrez Gene ID
1352
Gene Name
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
Gene Symbol
COX10
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0005743 TAS:Reactome C mitochondrial inner membrane
GO:0005739 IC:HGNC C mitochondrion
GO:0004311 TAS:ProtInc F farnesyltranstransferase activity
GO:0008495 IEA:InterPro F protoheme IX farnesyltransferase activity
GO:0009060 IEA:Ensembl P aerobic respiration
GO:0045333 IGI:HGNC P cellular respiration
GO:0048034 IEA:InterPro P heme O biosynthetic process
GO:0006784 IMP:HGNC P heme a biosynthetic process
GO:0006783 TAS:Reactome P heme biosynthetic process
GO:1902600 IMP:GOC P hydrogen ion transmembrane transport
GO:0006123 IC:HGNC P mitochondrial electron transport, cytochrome c to oxygen
GO:0000266 IEA:Ensembl P mitochondrial fission
GO:0006778 TAS:Reactome P porphyrin-containing compound metabolic process
GO:0008535 IMP:HGNC P respiratory chain complex IV assembly
GO:0044281 TAS:Reactome P small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00190 Oxidative phosphorylation
hsa00860 Porphyrin and chlorophyll metabolism

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_9465 Heme biosynthesis

Domain Information

InterPro Annotations

Accession Description
IPR006369 Protohaem IX farnesyltransferase
IPR016315 Protohaem IX farnesyltransferase, mitochondria
IPR000537 UbiA prenyltransferase family

UniProt Annotations

Entry Information

Gene Name
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
Protein Entry
COX10_HUMAN
UniProt ID
Q12887
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q12887-1; Sequence=Displayed; Name=2; IsoId=Q12887-2; Sequence=VSP_056867, VSP_056868; Note=No experimental confirmation available;
Disease Leigh syndrome (LS) [MIM
Disease Mitochondrial complex IV deficiency (MT-C4D) [MIM
Function Converts protoheme IX and farnesyl diphosphate to heme O.
Similarity Belongs to the UbiA prenyltransferase family.
Subcellular Location Mitochondrion membrane; Multi-pass membrane protein.

Identical and Related Proteins

Unique RefSeq proteins for LMP002235 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
17921982 RefSeq NP_001294 443 protoheme IX farnesyltransferase, mitochondrial

Identical Sequences to LMP002235 proteins

Reference Database Accession Length Protein Name
GI:17921982 GenBank EAW89956.1 443 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast), isoform CRA_a [Homo sapiens]
GI:17921982 GenBank JAA02879.1 443 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase [Pan troglodytes]
GI:17921982 GenBank JAA13290.1 443 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase [Pan troglodytes]
GI:17921982 GenBank AHD70774.1 443 Sequence 4242 from patent US 8586006
GI:17921982 RefSeq XP_520888.2 443 PREDICTED: protoheme IX farnesyltransferase, mitochondrial [Pan troglodytes]
GI:17921982 SwissProt Q12887.3 443 RecName: Full=Protoheme IX farnesyltransferase, mitochondrial; AltName: Full=Heme O synthase; Flags: Precursor [Homo sapiens]

Related Sequences to LMP002235 proteins

Reference Database Accession Length Protein Name
GI:17921982 DBBJ BAK63740.1 443 protoheme IX farnesyltransferase, mitochondrial precursor [Pan troglodytes]
GI:17921982 GenBank AAC51330.1 443 heme A: farnesyltransferase [Homo sapiens]
GI:17921982 GenBank AAH06394.1 443 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) [Homo sapiens]
GI:17921982 GenBank AAP35631.1 443 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) [Homo sapiens]
GI:17921982 GenBank AAX32690.1 443 COX10-like [synthetic construct]
GI:17921982 GenBank AAX32691.1 443 COX10-like [synthetic construct]