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COX42_HUMAN
ID   COX42_HUMAN             Reviewed;         171 AA.
AC   Q96KJ9; Q6GTF4; Q9H0Z4;
DT   03-APR-2002, integrated into UniProtKB/Swiss-Prot.
DT   16-AUG-2005, sequence version 2.
DT   03-AUG-2022, entry version 155.
DE   RecName: Full=Cytochrome c oxidase subunit 4 isoform 2, mitochondrial;
DE   AltName: Full=Cytochrome c oxidase subunit IV isoform 2;
DE            Short=COX IV-2;
DE   Flags: Precursor;
GN   Name=COX4I2; Synonyms=COX4L2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT HIS-161.
RX   PubMed=11311561; DOI=10.1016/s0378-1119(01)00385-7;
RA   Huettemann M., Kadenbach B., Grossman L.I.;
RT   "Mammalian subunit IV isoforms of cytochrome c oxidase.";
RL   Gene 267:111-123(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=11780052; DOI=10.1038/414865a;
RA   Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA   Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA   Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA   Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA   Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA   Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA   Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA   Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA   Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA   Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA   Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA   Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA   Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA   Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA   Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA   Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA   Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA   Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA   Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA   Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA   Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA   Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA   Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT   "The DNA sequence and comparative analysis of human chromosome 20.";
RL   Nature 414:865-871(2001).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Placenta;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   VARIANT EPIDACH LYS-138, AND CHARACTERIZATION OF VARIANT EPIDACH LYS-138.
RX   PubMed=19268275; DOI=10.1016/j.ajhg.2009.02.006;
RA   Shteyer E., Saada A., Shaag A., Al-Hijawi F.A., Kidess R., Revel-Vilk S.,
RA   Elpeleg O.;
RT   "Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial
RT   hyperostosis are caused by a mutation in the COX4I2 gene.";
RL   Am. J. Hum. Genet. 84:412-417(2009).
CC   -!- FUNCTION: Component of the cytochrome c oxidase, the last enzyme in the
CC       mitochondrial electron transport chain which drives oxidative
CC       phosphorylation. The respiratory chain contains 3 multisubunit
CC       complexes succinate dehydrogenase (complex II, CII), ubiquinol-
CC       cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III,
CC       CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to
CC       transfer electrons derived from NADH and succinate to molecular oxygen,
CC       creating an electrochemical gradient over the inner membrane that
CC       drives transmembrane transport and the ATP synthase. Cytochrome c
CC       oxidase is the component of the respiratory chain that catalyzes the
CC       reduction of oxygen to water. Electrons originating from reduced
CC       cytochrome c in the intermembrane space (IMS) are transferred via the
CC       dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1
CC       to the active site in subunit 1, a binuclear center (BNC) formed by
CC       heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2
CC       water molecules using 4 electrons from cytochrome c in the IMS and 4
CC       protons from the mitochondrial matrix. {ECO:0000250|UniProtKB:P00424}.
CC   -!- PATHWAY: Energy metabolism; oxidative phosphorylation.
CC       {ECO:0000250|UniProtKB:P00424}.
CC   -!- SUBUNIT: Component of the cytochrome c oxidase (complex IV, CIV), a
CC       multisubunit enzyme composed of 14 subunits. The complex is composed of
CC       a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in
CC       the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or
CC       COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C,
CC       COX7A2 (or COX7A1), COX7B, COX7C, COX8A and NDUFA4, which are encoded
CC       in the nuclear genome (By similarity). The complex exists as a monomer
CC       or a dimer and forms supercomplexes (SCs) in the inner mitochondrial
CC       membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and
CC       ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex
CC       III, CIII), resulting in different assemblies (supercomplex
CC       SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (By similarity).
CC       {ECO:0000250|UniProtKB:P00423}.
CC   -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC       {ECO:0000250|UniProtKB:P00423}; Single-pass membrane protein
CC       {ECO:0000250|UniProtKB:P00423}.
CC   -!- TISSUE SPECIFICITY: Highly expressed in lung.
CC   -!- DISEASE: Exocrine pancreatic insufficiency dyserythropoietic anemia and
CC       calvarial hyperostosis (EPIDACH) [MIM:612714]: Patients present with
CC       pancreatic insufficiency, intestinal malabsorption, failure to thrive,
CC       and anemia soon after birth. {ECO:0000269|PubMed:19268275}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- SIMILARITY: Belongs to the cytochrome c oxidase IV family.
CC       {ECO:0000305}.
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DR   EMBL; AF257180; AAK49333.1; -; mRNA.
DR   EMBL; AL117381; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC057779; AAH57779.1; -; mRNA.
DR   CCDS; CCDS13187.1; -.
DR   RefSeq; NP_115998.2; NM_032609.2.
DR   AlphaFoldDB; Q96KJ9; -.
DR   SMR; Q96KJ9; -.
DR   BioGRID; 124215; 26.
DR   IntAct; Q96KJ9; 3.
DR   STRING; 9606.ENSP00000365243; -.
DR   TCDB; 3.D.4.11.1; the proton-translocating cytochrome oxidase (cox) superfamily.
DR   PhosphoSitePlus; Q96KJ9; -.
DR   BioMuta; COX4I2; -.
DR   DMDM; 73620953; -.
DR   EPD; Q96KJ9; -.
DR   jPOST; Q96KJ9; -.
DR   MassIVE; Q96KJ9; -.
DR   PaxDb; Q96KJ9; -.
DR   PeptideAtlas; Q96KJ9; -.
DR   PRIDE; Q96KJ9; -.
DR   ProteomicsDB; 77079; -.
DR   Antibodypedia; 25206; 182 antibodies from 30 providers.
DR   DNASU; 84701; -.
DR   Ensembl; ENST00000376075.4; ENSP00000365243.3; ENSG00000131055.5.
DR   GeneID; 84701; -.
DR   KEGG; hsa:84701; -.
DR   MANE-Select; ENST00000376075.4; ENSP00000365243.3; NM_032609.3; NP_115998.2.
DR   UCSC; uc002wwj.2; human.
DR   CTD; 84701; -.
DR   DisGeNET; 84701; -.
DR   GeneCards; COX4I2; -.
DR   HGNC; HGNC:16232; COX4I2.
DR   HPA; ENSG00000131055; Tissue enhanced (lung, placenta).
DR   MalaCards; COX4I2; -.
DR   MIM; 607976; gene.
DR   MIM; 612714; phenotype.
DR   neXtProt; NX_Q96KJ9; -.
DR   OpenTargets; ENSG00000131055; -.
DR   Orphanet; 199337; Pancreatic insufficiency-anemia-hyperostosis syndrome.
DR   PharmGKB; PA26783; -.
DR   VEuPathDB; HostDB:ENSG00000131055; -.
DR   eggNOG; KOG4075; Eukaryota.
DR   GeneTree; ENSGT00390000002407; -.
DR   HOGENOM; CLU_117340_1_1_1; -.
DR   InParanoid; Q96KJ9; -.
DR   OMA; MLSRATW; -.
DR   OrthoDB; 1591226at2759; -.
DR   PhylomeDB; Q96KJ9; -.
DR   TreeFam; TF105061; -.
DR   PathwayCommons; Q96KJ9; -.
DR   SignaLink; Q96KJ9; -.
DR   UniPathway; UPA00705; -.
DR   BioGRID-ORCS; 84701; 24 hits in 1072 CRISPR screens.
DR   GeneWiki; COX4I2; -.
DR   GenomeRNAi; 84701; -.
DR   Pharos; Q96KJ9; Tbio.
DR   PRO; PR:Q96KJ9; -.
DR   Proteomes; UP000005640; Chromosome 20.
DR   RNAct; Q96KJ9; protein.
DR   Bgee; ENSG00000131055; Expressed in apex of heart and 139 other tissues.
DR   ExpressionAtlas; Q96KJ9; baseline and differential.
DR   Genevisible; Q96KJ9; HS.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0005751; C:mitochondrial respiratory chain complex IV; IBA:GO_Central.
DR   GO; GO:0004129; F:cytochrome-c oxidase activity; IDA:UniProtKB.
DR   GO; GO:0045333; P:cellular respiration; NAS:UniProtKB.
DR   GO; GO:0006091; P:generation of precursor metabolites and energy; NAS:UniProtKB.
DR   GO; GO:0006123; P:mitochondrial electron transport, cytochrome c to oxygen; IDA:UniProtKB.
DR   CDD; cd00922; Cyt_c_Oxidase_IV; 1.
DR   Gene3D; 1.10.442.10; -; 1.
DR   InterPro; IPR013288; Cyt_c_oxidase_su4.
DR   InterPro; IPR004203; Cyt_c_oxidase_su4_fam.
DR   InterPro; IPR036639; Cyt_c_oxidase_su4_sf.
DR   PANTHER; PTHR10707; PTHR10707; 1.
DR   Pfam; PF02936; COX4; 1.
DR   PRINTS; PR01873; CYTCOXIDASE4.
DR   SUPFAM; SSF81406; SSF81406; 1.
PE   1: Evidence at protein level;
KW   Disease variant; Membrane; Mitochondrion; Mitochondrion inner membrane;
KW   Reference proteome; Transit peptide; Transmembrane; Transmembrane helix.
FT   TRANSIT         1..28
FT                   /note="Mitochondrion"
FT                   /evidence="ECO:0000255"
FT   CHAIN           29..171
FT                   /note="Cytochrome c oxidase subunit 4 isoform 2,
FT                   mitochondrial"
FT                   /id="PRO_0000006089"
FT   TOPO_DOM        29..100
FT                   /note="Mitochondrial matrix"
FT                   /evidence="ECO:0000250|UniProtKB:P00423"
FT   TRANSMEM        101..126
FT                   /note="Helical"
FT                   /evidence="ECO:0000250|UniProtKB:P00423"
FT   TOPO_DOM        127..171
FT                   /note="Mitochondrial intermembrane"
FT                   /evidence="ECO:0000250|UniProtKB:P00423"
FT   REGION          13..32
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         138
FT                   /note="E -> K (in EPIDACH; expression in patient
FT                   fibroblasts is reduced to 25% of control values in normoxic
FT                   conditions; the mutant protein shows an impaired response
FT                   to hypoxia; dbSNP:rs119455950)"
FT                   /evidence="ECO:0000269|PubMed:19268275"
FT                   /id="VAR_058101"
FT   VARIANT         161
FT                   /note="R -> H (in dbSNP:rs11907253)"
FT                   /evidence="ECO:0000269|PubMed:11311561"
FT                   /id="VAR_033815"
SQ   SEQUENCE   171 AA;  20010 MW;  CD9BC8EC6EA3F4A3 CRC64;
     MLPRAAWSLV LRKGGGGRRG MHSSEGTTRG GGKMSPYTNC YAQRYYPMPE EPFCTELNAE
     EQALKEKEKG SWTQLTHAEK VALYRLQFNE TFAEMNRRSN EWKTVMGCVF FFIGFAALVI
     WWQRVYVFPP KPITLTDERK AQQLQRMLDM KVNPVQGLAS RWDYEKKQWK K
 
 
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