PT100_HUMAN
ID PT100_HUMAN Reviewed; 73 AA.
AC P0DJ07;
DT 19-OCT-2011, integrated into UniProtKB/Swiss-Prot.
DT 19-OCT-2011, sequence version 1.
DT 03-AUG-2022, entry version 65.
DE RecName: Full=Protein PET100 homolog, mitochondrial;
DE Flags: Precursor;
GN Name=PET100; Synonyms=C19orf79;
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 GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [3]
RP INTERACTION WITH COX7A2.
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 FUNCTION, SUBCELLULAR LOCATION, AND INVOLVEMENT IN MC4DN12.
RX PubMed=24462369; DOI=10.1016/j.ajhg.2013.12.015;
RA Lim S.C., Smith K.R., Stroud D.A., Compton A.G., Tucker E.J., Dasvarma A.,
RA Gandolfo L.C., Marum J.E., McKenzie M., Peters H.L., Mowat D.,
RA Procopis P.G., Wilcken B., Christodoulou J., Brown G.K., Ryan M.T.,
RA Bahlo M., Thorburn D.R.;
RT "A founder mutation in PET100 causes isolated complex IV deficiency in
RT Lebanese individuals with Leigh syndrome.";
RL Am. J. Hum. Genet. 94:209-222(2014).
RN [5]
RP FUNCTION, INVOLVEMENT IN MC4DN12, VARIANT MC4DN12 48-GLN--SER-73 DEL, AND
RP CHARACTERIZATION OF VARIANT MC4DN12 48-GLN--SER-73 DEL.
RX PubMed=25293719; DOI=10.1038/ejhg.2014.214;
RA Olahova M., Haack T.B., Alston C.L., Houghton J.A., He L., Morris A.A.,
RA Brown G.K., McFarland R., Chrzanowska-Lightowlers Z.M., Lightowlers R.N.,
RA Prokisch H., Taylor R.W.;
RT "A truncating PET100 variant causing fatal infantile lactic acidosis and
RT isolated cytochrome c oxidase deficiency.";
RL Eur. J. Hum. Genet. 23:935-939(2015).
CC -!- FUNCTION: Plays an essential role in mitochondrial complex IV
CC maturation and assembly. {ECO:0000269|PubMed:24462369,
CC ECO:0000269|PubMed:25293719}.
CC -!- SUBUNIT: Interacts with COX7A2. {ECO:0000269|PubMed:22356826}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}. Mitochondrion {ECO:0000250|UniProtKB:P0DJE0}.
CC Mitochondrion inner membrane {ECO:0000269|PubMed:24462369}.
CC -!- DISEASE: Mitochondrial complex IV deficiency, nuclear type 12 (MC4DN12)
CC [MIM:619055]: An autosomal recessive mitochondrial disorder with onset
CC in early infancy. MC4DN12 features include poor overall growth,
CC metabolic acidosis, profoundly delayed psychomotor development,
CC seizures, hypotonia, and brain abnormalities. Death may occur in the
CC first years of life. Serum lactate and creatine kinase levels are
CC increased. Patient tissues show decreased levels and activity of
CC mitochondrial respiratory complex IV. {ECO:0000269|PubMed:24462369,
CC ECO:0000269|PubMed:25293719}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the PET100 family. {ECO:0000305}.
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DR EMBL; AC008763; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC150496; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS54208.1; -.
DR RefSeq; NP_001164626.1; NM_001171155.1.
DR AlphaFoldDB; P0DJ07; -.
DR STRING; 9606.ENSP00000470539; -.
DR iPTMnet; P0DJ07; -.
DR PhosphoSitePlus; P0DJ07; -.
DR BioMuta; PET100; -.
DR DMDM; 353558869; -.
DR EPD; P0DJ07; -.
DR jPOST; P0DJ07; -.
DR MassIVE; P0DJ07; -.
DR MaxQB; P0DJ07; -.
DR PaxDb; P0DJ07; -.
DR PeptideAtlas; P0DJ07; -.
DR PRIDE; P0DJ07; -.
DR ProteomicsDB; 52536; -.
DR TopDownProteomics; P0DJ07; -.
DR Antibodypedia; 77906; 31 antibodies from 8 providers.
DR DNASU; 100131801; -.
DR Ensembl; ENST00000594797.6; ENSP00000470539.1; ENSG00000229833.10.
DR GeneID; 100131801; -.
DR KEGG; hsa:100131801; -.
DR MANE-Select; ENST00000594797.6; ENSP00000470539.1; NM_001171155.2; NP_001164626.1.
DR UCSC; uc010dvi.3; human.
DR CTD; 100131801; -.
DR DisGeNET; 100131801; -.
DR GeneCards; PET100; -.
DR HGNC; HGNC:40038; PET100.
DR HPA; ENSG00000229833; Low tissue specificity.
DR MalaCards; PET100; -.
DR MIM; 614770; gene.
DR MIM; 619055; phenotype.
DR neXtProt; NX_P0DJ07; -.
DR OpenTargets; ENSG00000229833; -.
DR Orphanet; 255241; Leigh syndrome with leukodystrophy.
DR VEuPathDB; HostDB:ENSG00000229833; -.
DR eggNOG; KOG4702; Eukaryota.
DR GeneTree; ENSGT00390000016884; -.
DR HOGENOM; CLU_194764_0_0_1; -.
DR InParanoid; P0DJ07; -.
DR OMA; QAEWFES; -.
DR OrthoDB; 1562794at2759; -.
DR PhylomeDB; P0DJ07; -.
DR TreeFam; TF314727; -.
DR PathwayCommons; P0DJ07; -.
DR BioGRID-ORCS; 100131801; 42 hits in 1081 CRISPR screens.
DR ChiTaRS; PET100; human.
DR Pharos; P0DJ07; Tbio.
DR PRO; PR:P0DJ07; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; P0DJ07; protein.
DR Bgee; ENSG00000229833; Expressed in bone marrow cell and 102 other tissues.
DR ExpressionAtlas; P0DJ07; baseline and differential.
DR Genevisible; P0DJ07; HS.
DR GO; GO:0031305; C:integral component of mitochondrial inner membrane; IBA:GO_Central.
DR GO; GO:0051082; F:unfolded protein binding; IBA:GO_Central.
DR GO; GO:0033617; P:mitochondrial cytochrome c oxidase assembly; IBA:GO_Central.
DR InterPro; IPR018625; Pet100.
DR PANTHER; PTHR33968; PTHR33968; 1.
DR Pfam; PF09803; Pet100; 1.
PE 1: Evidence at protein level;
KW Disease variant; Membrane; Mitochondrion; Mitochondrion inner membrane;
KW Primary mitochondrial disease; Reference proteome; Transit peptide;
KW Transmembrane; Transmembrane helix.
FT TRANSIT 1..?
FT /note="Mitochondrion"
FT CHAIN ?..73
FT /note="Protein PET100 homolog, mitochondrial"
FT /id="PRO_0000413099"
FT TRANSMEM 7..24
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VARIANT 48..73
FT /note="Missing (in MC4DN12; results in impaired complex IV
FT assembly)"
FT /evidence="ECO:0000269|PubMed:25293719"
FT /id="VAR_084179"
SQ SEQUENCE 73 AA; 9114 MW; CE20E13A4155616C CRC64;
MGVKLEIFRM IIYLTFPVAM FWVSNQAEWF EDDVIQRKRE LWPPEKLQEI EEFKERLRKR
REEKLLRDAQ QNS
