{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q6NW34","secondaryAccessions":["D3DN69","Q68DM6","Q9H7U0","Q9UFM4"],"uniProtkbId":"RMP64_HUMAN","entryAudit":{"firstPublicDate":"2006-03-07","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2007-03-20","entryVersion":160,"sequenceVersion":3},"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":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"40413743"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:24496"}],"value":"Ribonuclease MRP subunit P64"}},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Nucleolus and neural progenitor protein"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:24496"}],"value":"RMP64"},"synonyms":[{"value":"C3orf17"},{"value":"NEPRO"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8R2U2"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28115465"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40413743"}],"value":"Specific component of the MRP ribonucleoprotein endoribonuclease, Rnase/Mrp complex, a ribonucleoprotein complex involved in pre-rRNA processing (PubMed:28115465, PubMed:40413743). May play a role in cortex development as part of the Notch signaling pathway. Downstream of Notch may repress the expression of proneural genes and inhibit neuronal differentiation thereby maintaining neural progenitors. May also play a role in preimplentation embryo development (By similarity)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15096576"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40413743"}],"value":"Component of RNase MRP complex which consists of a catalytic RNA moiety and at least 12 protein subunits; POP1, POP4, POP5, POP7, RPP14, RPP25, POP4, RPP30, RPP38, RPP40, RMP24 and RMP64 (PubMed:15096576, PubMed:40413743). Many of these protein subunits are shared with the RNase P complex; however, RMP24 and RMP64 are specific to the RNase MRP complex and are absent in the RNase P complex (PubMed:40413743)"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"40413743"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8R2U2"}],"value":"Nucleus, nucleolus","id":"SL-0188"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q6NW34-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q6NW34-2"],"sequenceIds":["VSP_017342","VSP_017343"],"isoformSequenceStatus":"Described"}]},{"commentType":"DISEASE","disease":{"diseaseId":"Anauxetic dysplasia 3","diseaseAccession":"DI-05799","acronym":"ANXD3","description":"An autosomal recessive skeletal dysplasia characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility and dislocations, short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays.","diseaseCrossReference":{"database":"MIM","id":"618853"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26633546"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29620724"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31250547"}]},"note":{"texts":[{"value":"The disease may be caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the RMP64 family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"CAB55998.1","note":"Extended N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":567,"modifier":"EXACT"}},"description":"Ribonuclease MRP subunit P64","featureId":"PRO_0000225012"},{"type":"Region","location":{"start":{"value":437,"modifier":"EXACT"},"end":{"value":457,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":442,"modifier":"EXACT"},"end":{"value":460,"modifier":"EXACT"}},"description":"Nuclear localization signal","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8R2U2"}]},{"type":"Modified residue","location":{"start":{"value":265,"modifier":"EXACT"},"end":{"value":265,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18691976"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Alternative sequence","location":{"start":{"value":114,"modifier":"EXACT"},"end":{"value":114,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17974005"}],"featureId":"VSP_017342","alternativeSequence":{"originalSequence":"N","alternativeSequences":["K"]}},{"type":"Alternative sequence","location":{"start":{"value":115,"modifier":"EXACT"},"end":{"value":184,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17974005"}],"featureId":"VSP_017343","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":94,"modifier":"EXACT"},"end":{"value":94,"modifier":"EXACT"}},"description":"in ANXD3; uncertain significance; dbSNP:rs1236015814","featureCrossReferences":[{"database":"dbSNP","id":"rs1236015814"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26633546"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29620724"}],"featureId":"VAR_084136","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":101,"modifier":"EXACT"},"end":{"value":101,"modifier":"EXACT"}},"description":"in dbSNP:rs2291465","featureCrossReferences":[{"database":"dbSNP","id":"rs2291465"}],"featureId":"VAR_025418","alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":145,"modifier":"EXACT"},"end":{"value":145,"modifier":"EXACT"}},"description":"in ANXD3; uncertain significance; dbSNP:rs769447751","featureCrossReferences":[{"database":"dbSNP","id":"rs769447751"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31250547"}],"featureId":"VAR_084137","alternativeSequence":{"originalSequence":"L","alternativeSequences":["F"]}},{"type":"Natural variant","location":{"start":{"value":352,"modifier":"EXACT"},"end":{"value":352,"modifier":"EXACT"}},"description":"in dbSNP:rs2306858","featureCrossReferences":[{"database":"dbSNP","id":"rs2306858"}],"featureId":"VAR_025419","alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":357,"modifier":"EXACT"},"end":{"value":357,"modifier":"EXACT"}},"description":"in dbSNP:rs2306857","featureCrossReferences":[{"database":"dbSNP","id":"rs2306857"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14702039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"}],"featureId":"VAR_025420","alternativeSequence":{"originalSequence":"F","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":476,"modifier":"EXACT"},"end":{"value":476,"modifier":"EXACT"}},"description":"in dbSNP:rs3732813","featureCrossReferences":[{"database":"dbSNP","id":"rs3732813"}],"featureId":"VAR_025421","alternativeSequence":{"originalSequence":"T","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":490,"modifier":"EXACT"},"end":{"value":490,"modifier":"EXACT"}},"description":"in dbSNP:rs7628368","featureCrossReferences":[{"database":"dbSNP","id":"rs7628368"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17974005"}],"featureId":"VAR_025422","alternativeSequence":{"originalSequence":"S","alternativeSequences":["P"]}},{"type":"Sequence conflict","location":{"start":{"value":35,"modifier":"EXACT"},"end":{"value":35,"modifier":"EXACT"}},"description":"in Ref. 4; AAH67743","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"L","alternativeSequences":["I"]}},{"type":"Sequence conflict","location":{"start":{"value":509,"modifier":"EXACT"},"end":{"value":509,"modifier":"EXACT"}},"description":"in Ref. 4; AAH67743","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"S","alternativeSequences":["N"]}},{"type":"Sequence conflict","location":{"start":{"value":520,"modifier":"EXACT"},"end":{"value":520,"modifier":"EXACT"}},"description":"in Ref. 4; AAH67743","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"E","alternativeSequences":["G"]}}],"keywords":[{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0217","category":"Molecular function","name":"Developmental protein"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0242","category":"Disease","name":"Dwarfism"},{"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0694","category":"Molecular function","name":"RNA-binding"},{"id":"KW-0698","category":"Biological process","name":"rRNA processing"}],"references":[{"referenceNumber":1,"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] (ISOFORM 1)","VARIANT ILE-357"],"referenceComments":[{"value":"Placenta","type":"TISSUE"}]},{"referenceNumber":2,"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] (ISOFORMS 1 AND 2)","VARIANT PRO-490"],"referenceComments":[{"value":"Cerebellum","type":"TISSUE"},{"value":"Testis","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] (ISOFORM 1)","VARIANT ILE-357"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"18691976","citationType":"journal article","authors":["Daub H.","Olsen J.V.","Bairlein M.","Gnad F.","Oppermann F.S.","Korner R.","Greff Z.","Keri G.","Stemmann O.","Mann M."],"citationCrossReferences":[{"database":"PubMed","id":"18691976"},{"database":"DOI","id":"10.1016/j.molcel.2008.07.007"}],"title":"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.","publicationDate":"2008","journal":"Mol. Cell","firstPage":"438","lastPage":"448","volume":"31"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-265","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":6,"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":7,"citation":{"id":"20068231","citationType":"journal article","authors":["Olsen J.V.","Vermeulen M.","Santamaria A.","Kumar C.","Miller M.L.","Jensen L.J.","Gnad F.","Cox J.","Jensen T.S.","Nigg E.A.","Brunak S.","Mann M."],"citationCrossReferences":[{"database":"PubMed","id":"20068231"},{"database":"DOI","id":"10.1126/scisignal.2000475"}],"title":"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.","publicationDate":"2010","journal":"Sci. Signal.","firstPage":"RA3","lastPage":"RA3","volume":"3"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-265","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":8,"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":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-265","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"},{"value":"Erythroleukemia","type":"TISSUE"}]},{"referenceNumber":9,"citation":{"id":"26633546","citationType":"journal article","authors":["Shaheen R.","Patel N.","Shamseldin H.","Alzahrani F.","Al-Yamany R.","Almoisheer A.","Ewida N.","Anazi S.","Alnemer M.","Elsheikh M.","Alfaleh K.","Alshammari M.","Alhashem A.","Alangari A.A.","Salih M.A.","Kircher M.","Daza R.M.","Ibrahim N.","Wakil S.M.","Alaqeel A.","Altowaijri I.","Shendure J.","Al-Habib A.","Faqieh E.","Alkuraya F.S."],"citationCrossReferences":[{"database":"PubMed","id":"26633546"},{"database":"DOI","id":"10.1038/gim.2015.147"}],"title":"Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.","publicationDate":"2016","journal":"Genet. Med.","firstPage":"686","lastPage":"695","volume":"18"},"referencePositions":["INVOLVEMENT IN ANXD3","VARIANT ANXD3 CYS-94"]},{"referenceNumber":10,"citation":{"id":"15096576","citationType":"journal article","authors":["Welting T.J.","van Venrooij W.J.","Pruijn G.J."],"citationCrossReferences":[{"database":"PubMed","id":"15096576"},{"database":"DOI","id":"10.1093/nar/gkh539"}],"title":"Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex.","publicationDate":"2004","journal":"Nucleic Acids Res.","firstPage":"2138","lastPage":"2146","volume":"32"},"referencePositions":["SUBUNIT"]},{"referenceNumber":11,"citation":{"id":"28115465","citationType":"journal article","authors":["Goldfarb K.C.","Cech T.R."],"citationCrossReferences":[{"database":"PubMed","id":"28115465"},{"database":"DOI","id":"10.1101/gad.286963.116"}],"title":"Targeted CRISPR disruption reveals a role for RNase MRP RNA in human preribosomal RNA processing.","publicationDate":"2017","journal":"Genes Dev.","firstPage":"59","lastPage":"71","volume":"31"},"referencePositions":["FUNCTION OF RNASE MRP COMPLEX"]},{"referenceNumber":12,"citation":{"id":"40413743","citationType":"journal article","authors":["Che R.","Mirani B.","Panah M.","Chen X.","Luo H.","Alexandrov A."],"citationCrossReferences":[{"database":"PubMed","id":"40413743"},{"database":"DOI","id":"10.1016/j.celrep.2025.115752"}],"title":"Identification of RMP24 and RMP64, human ribonuclease MRP-specific protein components.","publicationDate":"2025","journal":"Cell Rep.","firstPage":"115752","lastPage":"115752","volume":"44"},"referencePositions":["FUNCTION","SUBCELLULAR LOCATION","SUBUNIT","IDENTIFICATION IN THE RNASE MRP COMPLEX"]},{"referenceNumber":13,"citation":{"id":"29620724","citationType":"journal article","authors":["Maddirevula S.","Alsahli S.","Alhabeeb L.","Patel N.","Alzahrani F.","Shamseldin H.E.","Anazi S.","Ewida N.","Alsaif H.S.","Mohamed J.Y.","Alazami A.M.","Ibrahim N.","Abdulwahab F.","Hashem M.","Abouelhoda M.","Monies D.","Al Tassan N.","Alshammari M.","Alsagheir A.","Seidahmed M.Z.","Sogati S.","Aglan M.S.","Hamad M.H.","Salih M.A.","Hamed A.A.","Alhashmi N.","Nabil A.","Alfadli F.","Abdel-Salam G.M.H.","Alkuraya H.","Peitee W.O.","Keng W.T.","Qasem A.","Mushiba A.M.","Zaki M.S.","Fassad M.R.","Alfadhel M.","Alexander S.","Sabr Y.","Temtamy S.","Ekbote A.V.","Ismail S.","Hosny G.A.","Otaify G.A.","Amr K.","Al Tala S.","Khan A.O.","Rizk T.","Alaqeel A.","Alsiddiky A.","Singh A.","Kapoor S.","Alhashem A.","Faqeih E.","Shaheen R.","Alkuraya F.S."],"citationCrossReferences":[{"database":"PubMed","id":"29620724"},{"database":"DOI","id":"10.1038/gim.2018.50"}],"title":"Expanding the phenome and variome of skeletal dysplasia.","publicationDate":"2018","journal":"Genet. Med.","firstPage":"1609","lastPage":"1616","volume":"20"},"referencePositions":["VARIANT ANXD3 CYS-94"]},{"referenceNumber":14,"citation":{"id":"31250547","citationType":"journal article","authors":["Narayanan D.L.","Shukla A.","Kausthubham N.","Bhavani G.S.","Shah H.","Mortier G.","Girisha K.M."],"citationCrossReferences":[{"database":"PubMed","id":"31250547"},{"database":"DOI","id":"10.1002/ajmg.a.61267"}],"title":"An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.","publicationDate":"2019","journal":"Am. J. Med. Genet. A","firstPage":"1709","lastPage":"1717","volume":"179"},"referencePositions":["VARIANT ANXD3 PHE-145"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AK024325","properties":[{"key":"ProteinId","value":"BAB14885.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL117573","properties":[{"key":"ProteinId","value":"CAB55998.1"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"CR749341","properties":[{"key":"ProteinId","value":"CAH18194.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"CH471052","properties":[{"key":"ProteinId","value":"EAW79648.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471052","properties":[{"key":"ProteinId","value":"EAW79649.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC067743","properties":[{"key":"ProteinId","value":"AAH67743.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS33824.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q6NW34-1"},{"database":"CCDS","id":"CCDS82820.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q6NW34-2"},{"database":"PIR","id":"T17308","properties":[{"key":"EntryName","value":"T17308"}]},{"database":"RefSeq","id":"NP_001306038.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001319109.2"}],"isoformId":"Q6NW34-2"},{"database":"RefSeq","id":"NP_001306039.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001319110.2"}]},{"database":"RefSeq","id":"NP_001306040.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001319111.2"}]},{"database":"RefSeq","id":"NP_001306041.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001319112.2"}]},{"database":"RefSeq","id":"NP_001306043.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001319114.2"}]},{"database":"RefSeq","id":"NP_001306044.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001319115.2"}]},{"database":"RefSeq","id":"NP_056227.2","properties":[{"key":"NucleotideSequenceId","value":"NM_015412.4"}],"isoformId":"Q6NW34-1"},{"database":"AlphaFoldDB","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-64157","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-64159","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-64160","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"117387","properties":[{"key":"Interactions","value":"129"}]},{"database":"ComplexPortal","id":"CPX-2876","properties":[{"key":"EntryName","value":"Ribonuclease MRP complex"}]},{"database":"FunCoup","id":"Q6NW34","properties":[{"key":"Number of interactors","value":"2731"}]},{"database":"IntAct","id":"Q6NW34","properties":[{"key":"Interactions","value":"80"}]},{"database":"MINT","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"STRING","id":"9606.ENSP00000320251","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"Q6NW34","properties":[{"key":"glycosylation","value":"1 site, 1 N-linked glycan (1 site)"}]},{"database":"iPTMnet","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"SwissPalm","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"NEPRO","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"134047717","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000320251","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"66738","properties":[{"key":"Description","value":"-"}],"isoformId":"Q6NW34-1"},{"database":"ProteomicsDB","id":"66739","properties":[{"key":"Description","value":"-"}],"isoformId":"Q6NW34-2"},{"database":"Pumba","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"32543","properties":[{"key":"antibodies","value":"88 antibodies from 18 providers"}]},{"database":"DNASU","id":"25871","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000314400.10","properties":[{"key":"ProteinId","value":"ENSP00000320251.5"},{"key":"GeneId","value":"ENSG00000163608.16"}],"isoformId":"Q6NW34-1"},{"database":"Ensembl","id":"ENST00000383675.6","properties":[{"key":"ProteinId","value":"ENSP00000373173.2"},{"key":"GeneId","value":"ENSG00000163608.16"}],"isoformId":"Q6NW34-2"},{"database":"GeneID","id":"25871","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:25871","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000314400.10","properties":[{"key":"ProteinId","value":"ENSP00000320251.5"},{"key":"RefSeqNucleotideId","value":"NM_015412.4"},{"key":"RefSeqProteinId","value":"NP_056227.2"}]},{"database":"UCSC","id":"uc003dzr.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q6NW34-1"},{"database":"AGR","id":"HGNC:24496","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA134948355","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"25871","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"25871","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"RMP64","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:24496","properties":[{"key":"GeneName","value":"RMP64"}]},{"database":"HPA","id":"ENSG00000163608","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"RMP64","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"617089","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"618853","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000163608","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"93347","properties":[{"key":"Disease","value":"Anauxetic dysplasia"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000163608","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"ENOG502QTP3","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00390000007644","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_035014_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"EFVLMKI","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"9899341at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q6NW34","properties":[{"key":"Number of GO annotations","value":"2 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"SignaLink","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000163608","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"25871","properties":[{"key":"hits","value":"771 hits in 1152 CRISPR screens"}]},{"database":"CD-CODE","id":"91857CE7","properties":[{"key":"EntryName","value":"Nucleolus"}]},{"database":"ChiTaRS","id":"NEPRO","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GenomeRNAi","id":"25871","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q6NW34","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q6NW34","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 3"}]},{"database":"RNAct","id":"Q6NW34","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000163608","properties":[{"key":"ExpressionPatterns","value":"Expressed in secondary oocyte and 184 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q6NW34","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0005730","properties":[{"key":"GoTerm","value":"C:nucleolus"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005654","properties":[{"key":"GoTerm","value":"C:nucleoplasm"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005634","properties":[{"key":"GoTerm","value":"C:nucleus"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"40413743"}]},{"database":"GO","id":"GO:0000172","properties":[{"key":"GoTerm","value":"C:ribonuclease MRP complex"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"40413743"}]},{"database":"GO","id":"GO:0045665","properties":[{"key":"GoTerm","value":"P:negative regulation of neuron differentiation"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0045747","properties":[{"key":"GoTerm","value":"P:positive regulation of Notch signaling pathway"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0006396","properties":[{"key":"GoTerm","value":"P:RNA processing"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"40413743"}]},{"database":"InterPro","id":"IPR052835","properties":[{"key":"EntryName","value":"Nepro"}]},{"database":"InterPro","id":"IPR027951","properties":[{"key":"EntryName","value":"Nepro_N"}]},{"database":"PANTHER","id":"PTHR34761","properties":[{"key":"EntryName","value":"NUCLEOLUS AND NEURAL PROGENITOR PROTEIN"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR34761:SF1","properties":[{"key":"EntryName","value":"NUCLEOLUS AND NEURAL PROGENITOR PROTEIN"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF14780","properties":[{"key":"EntryName","value":"NEPRO_N"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MMAAVPPGLEPWNRVRIPKAGNRSAVTVQNPGAALDLCIAAVIKECHLVILSLKSQTLDAETDVLCAVLYSNHNRMGRHKPHLALKQVEQCLKRLKNMNLEGSIQDLFELFSSNENQPLTTKVCVVPSQPVVELVLMKVLGACKLLLRLLDCCCKTFLLTVKHLGLQEFIILNLVMVGLVSRLWVLYKGVLKRLILLYEPLFGLLQEVARIQPMPYFKDFTFPSDITEFLGQPYFEAFKKKMPIAFAAKGINKLLNKLFLINEQSPRASEETLLGISKKAKQMKINVQNNVDLGQPVKNKRVFKEESSEFDVRAFCNQLKHKATQETSFDFKCSQSRLKTTKYSSQKVIGTPHAKSFVQRFREAESFTQLSEEIQMAVVWCRSKKLKAQAIFLGNKLLKSNRLKHLEAQGTSLPKKLECIKTSICNHLLRGSGIKTSKHHLRQRRSQNKFLRRQRKPQRKLQSTLLREIQQFSQGTRKSATDTSAKWRLSHCTVHRTDLYPNSKQLLNSGVSMPVIQTKEKMIHENLRGIHENETDSWTVMQINKNSTSGTIKETDDIDDIFALMGV","length":567,"molWeight":64552,"crc64":"88CB0CEE2A0CA0A2","md5":"497C82E73A9A4AD2311CC2113D7DB684"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":2,"DISEASE":1,"SIMILARITY":1,"SEQUENCE CAUTION":1},"countByFeatureType":{"Chain":1,"Region":2,"Modified residue":1,"Alternative sequence":2,"Natural variant":7,"Sequence conflict":3},"uniParcId":"UPI0000367197"}}