{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q9Y3E5","secondaryAccessions":["B3KUY4","Q9NTE5"],"uniProtkbId":"PTH2_HUMAN","entryAudit":{"firstPublicDate":"2000-05-30","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"1999-11-01","entryVersion":207,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Peptidyl-tRNA hydrolase 2, mitochondrial"},"shortNames":[{"value":"PTH 2"}],"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14660562"}],"value":"3.1.1.29"}]},"alternativeNames":[{"fullName":{"value":"Bcl-2 inhibitor of transcription 1"}}]},"genes":[{"geneName":{"value":"PTRH2"},"synonyms":[{"value":"BIT1"},{"value":"PTH2"}],"orfNames":[{"value":"CGI-147"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14660562"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15006356"}],"value":"Peptidyl-tRNA hydrolase which releases tRNAs from the ribosome during protein synthesis (PubMed:14660562). Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"an N-acyl-L-alpha-aminoacyl-tRNA + H2O = an N-acyl-L-amino acid + a tRNA + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:54448"},{"database":"Rhea","id":"RHEA-COMP:10123"},{"database":"Rhea","id":"RHEA-COMP:13883"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:59874"},{"database":"ChEBI","id":"CHEBI:78442"},{"database":"ChEBI","id":"CHEBI:138191"}],"ecNumber":"3.1.1.29","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14660562"}]}},{"texts":[{"value":"Monomer"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q9Y3E5","intActId":"EBI-1056751"},"interactantTwo":{"uniProtKBAccession":"P09564","geneName":"CD7","intActId":"EBI-2836587"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y3E5","intActId":"EBI-1056751"},"interactantTwo":{"uniProtKBAccession":"Q05397","geneName":"PTK2","intActId":"EBI-702142"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9Y3E5","intActId":"EBI-1056751"},"interactantTwo":{"uniProtKBAccession":"Q08117","geneName":"TLE5","intActId":"EBI-717810"},"numberOfExperiments":7,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27184847"}],"value":"Mitochondrion outer membrane","id":"SL-0172"},"topology":{"evidences":[{"evidenceCode":"ECO:0000255"}],"value":"Single-pass membrane protein","id":"SL-9904"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25621951"}],"value":"Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1","diseaseAccession":"DI-04353","acronym":"IMNEPD1","description":"A progressive multisystem disease characterized by a variety of neurologic, endocrine, and, in some patients, pancreatic features. Variable clinical symptoms include global developmental delay, hypotonia, hearing loss, ataxia, hyporeflexia, facial dysmorphism, hypothyroidism, and pancreatic insufficiency.","diseaseCrossReference":{"database":"MIM","id":"616263"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25558065"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25574476"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the PTH2 family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":179,"modifier":"EXACT"}},"description":"Peptidyl-tRNA hydrolase 2, mitochondrial","featureId":"PRO_0000029862"},{"type":"Transmembrane","location":{"start":{"value":15,"modifier":"EXACT"},"end":{"value":37,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Cross-link","location":{"start":{"value":47,"modifier":"EXACT"},"end":{"value":47,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25621951"}]},{"type":"Cross-link","location":{"start":{"value":76,"modifier":"EXACT"},"end":{"value":76,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25621951"}]},{"type":"Cross-link","location":{"start":{"value":81,"modifier":"EXACT"},"end":{"value":81,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25621951"}]},{"type":"Cross-link","location":{"start":{"value":95,"modifier":"EXACT"},"end":{"value":95,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25621951"}]},{"type":"Cross-link","location":{"start":{"value":106,"modifier":"EXACT"},"end":{"value":106,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25621951"}]},{"type":"Cross-link","location":{"start":{"value":115,"modifier":"EXACT"},"end":{"value":115,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25621951"}]},{"type":"Cross-link","location":{"start":{"value":171,"modifier":"EXACT"},"end":{"value":171,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25621951"}]},{"type":"Cross-link","location":{"start":{"value":177,"modifier":"EXACT"},"end":{"value":177,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25621951"}]},{"type":"Natural variant","location":{"start":{"value":85,"modifier":"EXACT"},"end":{"value":85,"modifier":"EXACT"}},"description":"in IMNEPD1; dbSNP:rs730882234","featureCrossReferences":[{"database":"dbSNP","id":"rs730882234"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25558065"}],"featureId":"VAR_073386","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["P"]}},{"type":"Beta strand","location":{"start":{"value":65,"modifier":"EXACT"},"end":{"value":72,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"1Q7S"}]},{"type":"Helix","location":{"start":{"value":73,"modifier":"EXACT"},"end":{"value":75,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"1Q7S"}]},{"type":"Helix","location":{"start":{"value":79,"modifier":"EXACT"},"end":{"value":100,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"1Q7S"}]},{"type":"Helix","location":{"start":{"value":102,"modifier":"EXACT"},"end":{"value":110,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"1Q7S"}]},{"type":"Beta strand","location":{"start":{"value":115,"modifier":"EXACT"},"end":{"value":122,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"1Q7S"}]},{"type":"Helix","location":{"start":{"value":123,"modifier":"EXACT"},"end":{"value":135,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"1Q7S"}]},{"type":"Beta strand","location":{"start":{"value":140,"modifier":"EXACT"},"end":{"value":145,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"1Q7S"}]},{"type":"Beta strand","location":{"start":{"value":147,"modifier":"EXACT"},"end":{"value":151,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"1Q7S"}]},{"type":"Beta strand","location":{"start":{"value":153,"modifier":"EXACT"},"end":{"value":165,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"1Q7S"}]},{"type":"Helix","location":{"start":{"value":166,"modifier":"EXACT"},"end":{"value":173,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"1Q7S"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0053","category":"Biological process","name":"Apoptosis"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0378","category":"Molecular function","name":"Hydrolase"},{"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"id":"KW-0496","category":"Cellular component","name":"Mitochondrion"},{"id":"KW-1000","category":"Cellular component","name":"Mitochondrion outer membrane"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"id":"KW-1133","category":"Domain","name":"Transmembrane helix"},{"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"10810093","citationType":"journal article","authors":["Lai C.-H.","Chou C.-Y.","Ch'ang L.-Y.","Liu C.-S.","Lin W.-C."],"citationCrossReferences":[{"database":"PubMed","id":"10810093"},{"database":"DOI","id":"10.1101/gr.10.5.703"}],"title":"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.","publicationDate":"2000","journal":"Genome Res.","firstPage":"703","lastPage":"713","volume":"10"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"]},{"referenceNumber":2,"citation":{"id":"14702039","citationType":"journal article","authors":["Ota T.","Suzuki Y.","Nishikawa T.","Otsuki T.","Sugiyama T.","Irie R.","Wakamatsu A.","Hayashi K.","Sato H.","Nagai K.","Kimura K.","Makita H.","Sekine M.","Obayashi M.","Nishi T.","Shibahara T.","Tanaka T.","Ishii S.","Yamamoto J.","Saito K.","Kawai Y.","Isono Y.","Nakamura Y.","Nagahari K.","Murakami K.","Yasuda T.","Iwayanagi T.","Wagatsuma M.","Shiratori A.","Sudo H.","Hosoiri T.","Kaku Y.","Kodaira H.","Kondo H.","Sugawara M.","Takahashi M.","Kanda K.","Yokoi T.","Furuya T.","Kikkawa E.","Omura Y.","Abe K.","Kamihara K.","Katsuta N.","Sato K.","Tanikawa M.","Yamazaki M.","Ninomiya K.","Ishibashi T.","Yamashita H.","Murakawa K.","Fujimori K.","Tanai H.","Kimata M.","Watanabe M.","Hiraoka S.","Chiba Y.","Ishida S.","Ono Y.","Takiguchi S.","Watanabe S.","Yosida M.","Hotuta T.","Kusano J.","Kanehori K.","Takahashi-Fujii A.","Hara H.","Tanase T.-O.","Nomura Y.","Togiya S.","Komai F.","Hara R.","Takeuchi K.","Arita M.","Imose N.","Musashino K.","Yuuki H.","Oshima A.","Sasaki N.","Aotsuka S.","Yoshikawa Y.","Matsunawa H.","Ichihara T.","Shiohata N.","Sano S.","Moriya S.","Momiyama H.","Satoh N.","Takami S.","Terashima Y.","Suzuki O.","Nakagawa S.","Senoh A.","Mizoguchi H.","Goto Y.","Shimizu F.","Wakebe H.","Hishigaki H.","Watanabe T.","Sugiyama A.","Takemoto M.","Kawakami B.","Yamazaki M.","Watanabe K.","Kumagai A.","Itakura S.","Fukuzumi Y.","Fujimori Y.","Komiyama M.","Tashiro H.","Tanigami A.","Fujiwara T.","Ono T.","Yamada K.","Fujii Y.","Ozaki K.","Hirao M.","Ohmori Y.","Kawabata A.","Hikiji T.","Kobatake N.","Inagaki H.","Ikema Y.","Okamoto S.","Okitani R.","Kawakami T.","Noguchi S.","Itoh T.","Shigeta K.","Senba T.","Matsumura K.","Nakajima Y.","Mizuno T.","Morinaga M.","Sasaki M.","Togashi T.","Oyama M.","Hata H.","Watanabe M.","Komatsu T.","Mizushima-Sugano J.","Satoh T.","Shirai Y.","Takahashi Y.","Nakagawa K.","Okumura K.","Nagase T.","Nomura N.","Kikuchi H.","Masuho Y.","Yamashita R.","Nakai K.","Yada T.","Nakamura Y.","Ohara O.","Isogai T.","Sugano S."],"citationCrossReferences":[{"database":"PubMed","id":"14702039"},{"database":"DOI","id":"10.1038/ng1285"}],"title":"Complete sequencing and characterization of 21,243 full-length human cDNAs.","publicationDate":"2004","journal":"Nat. Genet.","firstPage":"40","lastPage":"45","volume":"36"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"],"referenceComments":[{"value":"Uterus","type":"TISSUE"}]},{"referenceNumber":3,"citation":{"id":"CI-5GBD0VIIJ7C63","citationType":"submission","authors":["Mural R.J.","Istrail S.","Sutton G.G.","Florea L.","Halpern A.L.","Mobarry C.M.","Lippert R.","Walenz B.","Shatkay H.","Dew I.","Miller J.R.","Flanigan M.J.","Edwards N.J.","Bolanos R.","Fasulo D.","Halldorsson B.V.","Hannenhalli S.","Turner R.","Yooseph S.","Lu F.","Nusskern D.R.","Shue B.C.","Zheng X.H.","Zhong F.","Delcher A.L.","Huson D.H.","Kravitz S.A.","Mouchard L.","Reinert K.","Remington K.A.","Clark A.G.","Waterman M.S.","Eichler E.E.","Adams M.D.","Hunkapiller M.W.","Myers E.W.","Venter J.C."],"publicationDate":"SEP-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":4,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"],"referenceComments":[{"value":"Placenta","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"17974005","citationType":"journal article","authors":["Bechtel S.","Rosenfelder H.","Duda A.","Schmidt C.P.","Ernst U.","Wellenreuther R.","Mehrle A.","Schuster C.","Bahr A.","Bloecker H.","Heubner D.","Hoerlein A.","Michel G.","Wedler H.","Koehrer K.","Ottenwaelder B.","Poustka A.","Wiemann S.","Schupp I."],"citationCrossReferences":[{"database":"PubMed","id":"17974005"},{"database":"DOI","id":"10.1186/1471-2164-8-399"}],"title":"The full-ORF clone resource of the German cDNA consortium.","publicationDate":"2007","journal":"BMC Genomics","firstPage":"399","lastPage":"399","volume":"8"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-179"],"referenceComments":[{"value":"Testis","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"15006356","citationType":"journal article","authors":["Jan Y.","Matter M.","Pai J.-T.","Chen Y.-L.","Pilch J.","Komatsu M.","Ong E.","Fukuda M.","Ruoslahti E."],"citationCrossReferences":[{"database":"PubMed","id":"15006356"},{"database":"DOI","id":"10.1016/s0092-8674(04)00204-1"}],"title":"A mitochondrial protein, Bit1, mediates apoptosis regulated by integrins and Groucho/TLE corepressors.","publicationDate":"2004","journal":"Cell","firstPage":"751","lastPage":"762","volume":"116"},"referencePositions":["FUNCTION IN APOPTOSIS"]},{"referenceNumber":7,"citation":{"id":"18669648","citationType":"journal article","authors":["Dephoure N.","Zhou C.","Villen J.","Beausoleil S.A.","Bakalarski C.E.","Elledge S.J.","Gygi S.P."],"citationCrossReferences":[{"database":"PubMed","id":"18669648"},{"database":"DOI","id":"10.1073/pnas.0805139105"}],"title":"A quantitative atlas of mitotic phosphorylation.","publicationDate":"2008","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"10762","lastPage":"10767","volume":"105"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":8,"citation":{"id":"21269460","citationType":"journal article","authors":["Burkard T.R.","Planyavsky M.","Kaupe I.","Breitwieser F.P.","Buerckstuemmer T.","Bennett K.L.","Superti-Furga G.","Colinge J."],"citationCrossReferences":[{"database":"PubMed","id":"21269460"},{"database":"DOI","id":"10.1186/1752-0509-5-17"}],"title":"Initial characterization of the human central proteome.","publicationDate":"2011","journal":"BMC Syst. Biol.","firstPage":"17","lastPage":"17","volume":"5"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":9,"citation":{"id":"23186163","citationType":"journal article","authors":["Zhou H.","Di Palma S.","Preisinger C.","Peng M.","Polat A.N.","Heck A.J.","Mohammed S."],"citationCrossReferences":[{"database":"PubMed","id":"23186163"},{"database":"DOI","id":"10.1021/pr300630k"}],"title":"Toward a comprehensive characterization of a human cancer cell phosphoproteome.","publicationDate":"2013","journal":"J. Proteome Res.","firstPage":"260","lastPage":"271","volume":"12"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"},{"value":"Erythroleukemia","type":"TISSUE"}]},{"referenceNumber":10,"citation":{"id":"25574476","citationType":"journal article","authors":["Hu H.","Matter M.L.","Issa-Jahns L.","Jijiwa M.","Kraemer N.","Musante L.","de la Vega M.","Ninnemann O.","Schindler D.","Damatova N.","Eirich K.","Sifringer M.","Schroetter S.","Eickholt B.J.","van den Heuvel L.","Casamina C.","Stoltenburg-Didinger G.","Ropers H.H.","Wienker T.F.","Huebner C.","Kaindl A.M."],"citationCrossReferences":[{"database":"PubMed","id":"25574476"},{"database":"DOI","id":"10.1002/acn3.149"}],"title":"Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.","publicationDate":"2014","journal":"Ann. Clin. Transl. Neurol.","firstPage":"1024","lastPage":"1035","volume":"1"},"referencePositions":["INVOLVEMENT IN IMNEPD1"]},{"referenceNumber":11,"citation":{"id":"25558065","citationType":"journal article","authors":["Alazami A.M.","Patel N.","Shamseldin H.E.","Anazi S.","Al-Dosari M.S.","Alzahrani F.","Hijazi H.","Alshammari M.","Aldahmesh M.A.","Salih M.A.","Faqeih E.","Alhashem A.","Bashiri F.A.","Al-Owain M.","Kentab A.Y.","Sogaty S.","Al Tala S.","Temsah M.H.","Tulbah M.","Aljelaify R.F.","Alshahwan S.A.","Seidahmed M.Z.","Alhadid A.A.","Aldhalaan H.","Alqallaf F.","Kurdi W.","Alfadhel M.","Babay Z.","Alsogheer M.","Kaya N.","Al-Hassnan Z.N.","Abdel-Salam G.M.","Al-Sannaa N.","Al Mutairi F.","El Khashab H.Y.","Bohlega S.","Jia X.","Nguyen H.C.","Hammami R.","Adly N.","Mohamed J.Y.","Abdulwahab F.","Ibrahim N.","Naim E.A.","Al-Younes B.","Meyer B.F.","Hashem M.","Shaheen R.","Xiong Y.","Abouelhoda M.","Aldeeri A.A.","Monies D.M.","Alkuraya F.S."],"citationCrossReferences":[{"database":"PubMed","id":"25558065"},{"database":"DOI","id":"10.1016/j.celrep.2014.12.015"}],"title":"Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.","publicationDate":"2015","journal":"Cell Rep.","firstPage":"148","lastPage":"161","volume":"10"},"referencePositions":["INVOLVEMENT IN IMNEPD1","VARIANT IMNEPD1 PRO-85"]},{"referenceNumber":12,"citation":{"id":"25621951","citationType":"journal article","authors":["Cunningham C.N.","Baughman J.M.","Phu L.","Tea J.S.","Yu C.","Coons M.","Kirkpatrick D.S.","Bingol B.","Corn J.E."],"citationCrossReferences":[{"database":"PubMed","id":"25621951"},{"database":"DOI","id":"10.1038/ncb3097"}],"title":"USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria.","publicationDate":"2015","journal":"Nat. Cell Biol.","firstPage":"160","lastPage":"169","volume":"17"},"referencePositions":["UBIQUITINATION AT LYS-47; LYS-76; LYS-81; LYS-95; LYS-106; LYS-115; LYS-171 AND LYS-177"]},{"referenceNumber":13,"citation":{"id":"25944712","citationType":"journal article","authors":["Vaca Jacome A.S.","Rabilloud T.","Schaeffer-Reiss C.","Rompais M.","Ayoub D.","Lane L.","Bairoch A.","Van Dorsselaer A.","Carapito C."],"citationCrossReferences":[{"database":"PubMed","id":"25944712"},{"database":"DOI","id":"10.1002/pmic.201400617"}],"title":"N-terminome analysis of the human mitochondrial proteome.","publicationDate":"2015","journal":"Proteomics","firstPage":"2519","lastPage":"2524","volume":"15"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":14,"citation":{"id":"27184847","citationType":"journal article","authors":["Lee S.Y.","Kang M.G.","Park J.S.","Lee G.","Ting A.Y.","Rhee H.W."],"citationCrossReferences":[{"database":"PubMed","id":"27184847"},{"database":"DOI","id":"10.1016/j.celrep.2016.04.064"}],"title":"APEX Fingerprinting Reveals the Subcellular Localization of Proteins of Interest.","publicationDate":"2016","journal":"Cell Rep.","firstPage":"1837","lastPage":"1847","volume":"15"},"referencePositions":["SUBCELLULAR LOCATION"]},{"referenceNumber":15,"citation":{"id":"14660562","citationType":"journal article","authors":["De Pereda J.M.","Waas W.F.","Jan Y.","Ruoslahti E.","Schimmel P.","Pascual J."],"citationCrossReferences":[{"database":"PubMed","id":"14660562"},{"database":"DOI","id":"10.1074/jbc.m311449200"}],"title":"Crystal structure of a human peptidyl-tRNA hydrolase reveals a new fold and suggests basis for a bifunctional activity.","publicationDate":"2004","journal":"J. Biol. Chem.","firstPage":"8111","lastPage":"8115","volume":"279"},"referencePositions":["X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 63-179","CATALYTIC ACTIVITY","FUNCTION"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AF151905","properties":[{"key":"ProteinId","value":"AAD34142.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK098219","properties":[{"key":"ProteinId","value":"BAG53596.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"CH471109","properties":[{"key":"ProteinId","value":"EAW94394.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC006807","properties":[{"key":"ProteinId","value":"AAH06807.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL137322","properties":[{"key":"ProteinId","value":"CAB70696.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS11618.1","properties":[{"key":"Description","value":"-"}]},{"database":"PIR","id":"T46479","properties":[{"key":"EntryName","value":"T46479"}]},{"database":"RefSeq","id":"NP_001015509.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001015509.3"}]},{"database":"RefSeq","id":"NP_057161.1","properties":[{"key":"NucleotideSequenceId","value":"NM_016077.5"}]},{"database":"RefSeq","id":"XP_011523189.1","properties":[{"key":"NucleotideSequenceId","value":"XM_011524887.3"}]},{"database":"RefSeq","id":"XP_054172388.1","properties":[{"key":"NucleotideSequenceId","value":"XM_054316413.1"}]},{"database":"PDB","id":"1Q7S","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.00 A"},{"key":"Chains","value":"A/B=63-179"}]},{"database":"PDBsum","id":"1Q7S","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"119659","properties":[{"key":"Interactions","value":"273"}]},{"database":"FunCoup","id":"Q9Y3E5","properties":[{"key":"Number of interactors","value":"3960"}]},{"database":"IntAct","id":"Q9Y3E5","properties":[{"key":"Interactions","value":"90"}]},{"database":"MINT","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-PTRH2","properties":[{"key":"Evidences","value":"2 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000387180","properties":[{"key":"Description","value":"-"}]},{"database":"MoonDB","id":"Q9Y3E5","properties":[{"key":"Type","value":"Curated"}]},{"database":"MoonProt","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"Q9Y3E5","properties":[{"key":"glycosylation","value":"1 site, 1 O-linked glycan (1 site)"}]},{"database":"iPTMnet","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"MetOSite","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"SwissPalm","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"PTRH2","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"6686183","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000387180","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"86030","properties":[{"key":"Description","value":"-"}]},{"database":"Pumba","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"TopDownProteomics","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"2479","properties":[{"key":"antibodies","value":"381 antibodies from 38 providers"}]},{"database":"DNASU","id":"51651","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000393038.3","properties":[{"key":"ProteinId","value":"ENSP00000376758.2"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000470557.2","properties":[{"key":"ProteinId","value":"ENSP00000464327.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000892066.1","properties":[{"key":"ProteinId","value":"ENSP00000562125.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000892067.1","properties":[{"key":"ProteinId","value":"ENSP00000562126.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000892068.1","properties":[{"key":"ProteinId","value":"ENSP00000562127.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000892069.1","properties":[{"key":"ProteinId","value":"ENSP00000562128.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000892070.1","properties":[{"key":"ProteinId","value":"ENSP00000562129.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000892071.1","properties":[{"key":"ProteinId","value":"ENSP00000562130.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000892072.1","properties":[{"key":"ProteinId","value":"ENSP00000562131.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000913128.1","properties":[{"key":"ProteinId","value":"ENSP00000583187.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000913129.1","properties":[{"key":"ProteinId","value":"ENSP00000583188.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000913130.1","properties":[{"key":"ProteinId","value":"ENSP00000583189.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000913131.1","properties":[{"key":"ProteinId","value":"ENSP00000583190.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000913132.1","properties":[{"key":"ProteinId","value":"ENSP00000583191.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000913133.1","properties":[{"key":"ProteinId","value":"ENSP00000583192.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000913134.1","properties":[{"key":"ProteinId","value":"ENSP00000583193.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000913135.1","properties":[{"key":"ProteinId","value":"ENSP00000583194.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"Ensembl","id":"ENST00000961197.1","properties":[{"key":"ProteinId","value":"ENSP00000631256.1"},{"key":"GeneId","value":"ENSG00000141378.16"}]},{"database":"GeneID","id":"51651","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:51651","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000393038.3","properties":[{"key":"ProteinId","value":"ENSP00000376758.2"},{"key":"RefSeqNucleotideId","value":"NM_016077.5"},{"key":"RefSeqProteinId","value":"NP_057161.1"}]},{"database":"UCSC","id":"uc002ixt.4","properties":[{"key":"OrganismName","value":"human"}]},{"database":"AGR","id":"HGNC:24265","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA143485586","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"51651","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"51651","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"PTRH2","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"PTRH2","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:24265","properties":[{"key":"GeneName","value":"PTRH2"}]},{"database":"HPA","id":"ENSG00000141378","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"PTRH2","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"608625","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"616263","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000141378","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"456312","properties":[{"key":"Disease","value":"Infantile multisystem neurologic-endocrine-pancreatic disease"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000141378","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG3282","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00390000015991","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_073661_1_1_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"GHAAVEC","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"1733656at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q9Y3E5","properties":[{"key":"Number of GO annotations","value":"4 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"BRENDA","id":"3.1.1.29","properties":[{"key":"OrganismId","value":"2681"}]},{"database":"PathwayCommons","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-5689880","properties":[{"key":"PathwayName","value":"Ub-specific processing proteases"}]},{"database":"SignaLink","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000141378","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"51651","properties":[{"key":"hits","value":"32 hits in 1072 CRISPR screens"}]},{"database":"ChiTaRS","id":"PTRH2","properties":[{"key":"OrganismName","value":"human"}]},{"database":"EvolutionaryTrace","id":"Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"51651","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q9Y3E5","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q9Y3E5","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 17"}]},{"database":"RNAct","id":"Q9Y3E5","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000141378","properties":[{"key":"ExpressionPatterns","value":"Expressed in cervix squamous epithelium and 205 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q9Y3E5","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0005829","properties":[{"key":"GoTerm","value":"C:cytosol"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"15006356"},{"evidenceCode":"ECO:0000315","source":"PubMed","id":"22952044"}]},{"database":"GO","id":"GO:0016020","properties":[{"key":"GoTerm","value":"C:membrane"},{"key":"GoEvidenceType","value":"HDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0007005","source":"PubMed","id":"19946888"}]},{"database":"GO","id":"GO:0005741","properties":[{"key":"GoTerm","value":"C:mitochondrial outer membrane"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"27184847"}]},{"database":"GO","id":"GO:0005739","properties":[{"key":"GoTerm","value":"C:mitochondrion"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"15006356"}]},{"database":"GO","id":"GO:0004045","properties":[{"key":"GoTerm","value":"F:peptidyl-tRNA hydrolase activity"},{"key":"GoEvidenceType","value":"IMP:CAFA"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"14660562"}]},{"database":"GO","id":"GO:2000811","properties":[{"key":"GoTerm","value":"P:negative regulation of anoikis"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"21383007"}]},{"database":"GO","id":"GO:0010629","properties":[{"key":"GoTerm","value":"P:negative regulation of gene expression"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"15006356"}]},{"database":"GO","id":"GO:2000210","properties":[{"key":"GoTerm","value":"P:positive regulation of anoikis"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"15006356"},{"evidenceCode":"ECO:0000315","source":"PubMed","id":"22952044"}]},{"database":"CDD","id":"cd02430","properties":[{"key":"EntryName","value":"PTH2"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.1490.10:FF:000001","properties":[{"key":"EntryName","value":"Peptidyl-tRNA hydrolase 2"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.1490.10","properties":[{"key":"EntryName","value":"Bit1"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR023476","properties":[{"key":"EntryName","value":"Pep_tRNA_hydro_II_dom_sf"}]},{"database":"InterPro","id":"IPR002833","properties":[{"key":"EntryName","value":"PTH2"}]},{"database":"NCBIfam","id":"TIGR00283","properties":[{"key":"EntryName","value":"arch_pth2"},{"key":"MatchStatus","value":"1"}]},{"database":"NCBIfam","id":"NF003314","properties":[{"key":"EntryName","value":"PRK04322.1"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR12649","properties":[{"key":"EntryName","value":"PEPTIDYL-TRNA HYDROLASE 2"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR12649:SF11","properties":[{"key":"EntryName","value":"PEPTIDYL-TRNA HYDROLASE 2, MITOCHONDRIAL"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF01981","properties":[{"key":"EntryName","value":"PTH2"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF102462","properties":[{"key":"EntryName","value":"Peptidyl-tRNA hydrolase II"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MPSKSLVMEYLAHPSTLGLAVGVACGMCLGWSLRVCFGMLPKSKTSKTHTDTESEASILGDSGEYKMILVVRNDLKMGKGKVAAQCSHAAVSAYKQIQRRNPEMLKQWEYCGQPKVVVKAPDEETLIALLAHAKMLGLTVSLIQDAGRTQIAPGSQTVLGIGPGPADLIDKVTGHLKLY","length":179,"molWeight":19194,"crc64":"11A0BA9ECF6B5E46","md5":"7C38494FFF9EFD80BD6C9EAA8204E584"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"CATALYTIC ACTIVITY":1,"SUBUNIT":1,"INTERACTION":3,"SUBCELLULAR LOCATION":1,"PTM":1,"DISEASE":1,"SIMILARITY":1},"countByFeatureType":{"Chain":1,"Transmembrane":1,"Cross-link":8,"Natural variant":1,"Beta strand":5,"Helix":5},"uniParcId":"UPI000013A5FA"}}