ID   PT117_HUMAN             Reviewed;          81 AA.
AC   Q6UWS5;
DT   21-MAR-2012, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   02-SEP-2026, entry version 114.
DE   RecName: Full=Protein PET117 homolog, mitochondrial;
DE   Flags: Precursor;
GN   Name=PET117; ORFNames=UNQ607/PRO1194;
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 [LARGE SCALE MRNA].
RX   PubMed=12975309; DOI=10.1101/gr.1293003;
RA   Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA   Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA   Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA   Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA   Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA   Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA   Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA   Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT   "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT   identify novel human secreted and transmembrane proteins: a bioinformatics
RT   assessment.";
RL   Genome Res. 13:2265-2270(2003).
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   SUBCELLULAR LOCATION.
RX   PubMed=22356826; DOI=10.1186/gb-2012-13-2-r12;
RA   Szklarczyk R., Wanschers B.F., Cuypers T.D., Esseling J.J., Riemersma M.,
RA   van den Brand M.A., Gloerich J., Lasonder E., van den Heuvel L.P.,
RA   Nijtmans L.G., Huynen M.A.;
RT   "Iterative orthology prediction uncovers new mitochondrial proteins and
RT   identifies C12orf62 as the human ortholog of COX14, a protein involved in
RT   the assembly of cytochrome c oxidase.";
RL   Genome Biol. 13:RESEARCH0012.1-RESEARCH0012.14(2012).
RN   [4]
RP   INVOLVEMENT IN MC4DN19, AND VARIANT MC4DN19 58-GLN--SER-81 DEL.
RX   PubMed=28386624; DOI=10.1007/s00439-017-1794-7;
RA   Renkema G.H., Visser G., Baertling F., Wintjes L.T., Wolters V.M.,
RA   van Montfrans J., de Kort G.A.P., Nikkels P.G.J., van Hasselt P.M.,
RA   van der Crabben S.N., Rodenburg R.J.T.;
RT   "Mutated PET117 causes complex IV deficiency and is associated with
RT   neurodevelopmental regression and medulla oblongata lesions.";
RL   Hum. Genet. 136:759-769(2017).
CC   -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22356826}.
CC   -!- DISEASE: Mitochondrial complex IV deficiency, nuclear type 19 (MC4DN19)
CC       [MIM:619063]: An autosomal recessive mitochondrial disorder with onset
CC       in infancy or early childhood. MC4DN19 is characterized by global
CC       developmental delay, impaired intellectual development, developmental
CC       regression, loss of acquired motor and language skills, and motor
CC       dysfunction. Patient tissues show decreased levels and activity of
CC       mitochondrial respiratory complex IV. {ECO:0000269|PubMed:28386624}.
CC       Note=The disease may be caused by variants affecting the gene
CC       represented in this entry.
CC   -!- SIMILARITY: Belongs to the PET117 family. {ECO:0000305}.
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DR   EMBL; AY358666; AAQ89029.1; -; mRNA.
DR   EMBL; AL050321; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS54450.1; -.
DR   RefSeq; NP_001158283.1; NM_001164811.2.
DR   AlphaFoldDB; Q6UWS5; -.
DR   SMR; Q6UWS5; -.
DR   BioGRID; 1147409; 6.
DR   CORUM; Q6UWS5; -.
DR   FunCoup; Q6UWS5; 459.
DR   IntAct; Q6UWS5; 1.
DR   NDEx; IQUERY-CP-PET117; 1 NDEx IQuery Curated Pathway.
DR   STRING; 9606.ENSP00000397881; -.
DR   PhosphoSitePlus; Q6UWS5; -.
DR   BioMuta; PET117; -.
DR   DMDM; 74738135; -.
DR   jPOST; Q6UWS5; -.
DR   MassIVE; Q6UWS5; -.
DR   PaxDb; 9606-ENSP00000397881; -.
DR   PeptideAtlas; Q6UWS5; -.
DR   ProteomicsDB; 67518; -.
DR   Pumba; Q6UWS5; -.
DR   Antibodypedia; 62804; 12 antibodies from 9 providers.
DR   DNASU; 100303755; -.
DR   Ensembl; ENST00000432901.4; ENSP00000397881.2; ENSG00000232838.4.
DR   GeneID; 100303755; -.
DR   KEGG; hsa:100303755; -.
DR   MANE-Select; ENST00000432901.4; ENSP00000397881.2; NM_001164811.2; NP_001158283.1.
DR   UCSC; uc021wba.2; human.
DR   AGR; HGNC:40045; -.
DR   CTD; 100303755; -.
DR   DisGeNET; 100303755; -.
DR   GeneCards; PET117; -.
DR   HGNC; HGNC:40045; PET117.
DR   HPA; ENSG00000232838; Low tissue specificity.
DR   MalaCards; PET117; -.
DR   MIM; 614771; gene.
DR   MIM; 619063; phenotype.
DR   OpenTargets; ENSG00000232838; -.
DR   Orphanet; 254905; Isolated cytochrome C oxidase deficiency.
DR   VEuPathDB; HostDB:ENSG00000232838; -.
DR   eggNOG; ENOG502S7B1; Eukaryota.
DR   GeneTree; ENSGT00520000059926; -.
DR   HOGENOM; CLU_161486_2_0_1; -.
DR   InParanoid; Q6UWS5; -.
DR   OMA; WDRERLH; -.
DR   OrthoDB; 76305at2759; -.
DR   PAN-GO; Q6UWS5; 2 GO annotations based on evolutionary models.
DR   PhylomeDB; Q6UWS5; -.
DR   PathwayCommons; Q6UWS5; -.
DR   Reactome; R-HSA-9864848; Complex IV assembly.
DR   Agora; ENSG00000232838; -.
DR   BioGRID-ORCS; 100303755; 264 hits in 1160 CRISPR screens.
DR   ChiTaRS; PET117; human.
DR   GenomeRNAi; 100303755; -.
DR   Pharos; Q6UWS5; Tdark.
DR   PRO; PR:Q6UWS5; -.
DR   Proteomes; UP000005640; Chromosome 20.
DR   RNAct; Q6UWS5; protein.
DR   Bgee; ENSG00000232838; Expressed in endothelial cell and 174 other cell types or tissues.
DR   ExpressionAtlas; Q6UWS5; baseline and differential.
DR   GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR   GO; GO:0033617; P:mitochondrial respiratory chain complex IV assembly; IBA:GO_Central.
DR   InterPro; IPR031568; Pet117.
DR   PANTHER; PTHR28163; PROTEIN PET117 HOMOLOG, MITOCHONDRIAL; 1.
DR   PANTHER; PTHR28163:SF1; PROTEIN PET117 HOMOLOG, MITOCHONDRIAL; 1.
DR   Pfam; PF15786; PET117; 1.
PE   1: Evidence at protein level;
KW   Disease variant; Mitochondrion; Primary mitochondrial disease;
KW   Proteomics identification; Reference proteome; Transit peptide.
FT   TRANSIT         1..22
FT                   /note="Mitochondrion"
FT                   /evidence="ECO:0000255"
FT   CHAIN           23..81
FT                   /note="Protein PET117 homolog, mitochondrial"
FT                   /id="PRO_0000416096"
FT   VARIANT         58..81
FT                   /note="Missing (in MC4DN19)"
FT                   /evidence="ECO:0000269|PubMed:28386624"
FT                   /id="VAR_084185"
SQ   SEQUENCE   81 AA;  9223 MW;  47FDC5E7BC63E87C CRC64;
     MSRSSKVVLG LSVLLTAATV AGVHVKQQWD QQRLRDGVIR DIERQIRKKE NIRLLGEQII
     LTEQLEAERE KMLLAKGSQK S
//