LOCUS       NM_001256679            5633 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens protein only RNase P catalytic subunit (PRORP),
            transcript variant 3, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001256679
VERSION     NM_001256679.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5633)
  AUTHORS   Zhang,E., Sun,Q., Zhang,C., Ma,H., Zhang,J., Ding,Y., Wang,G.,
            Jin,C., Jin,C., Fu,Y., Yan,C., Zhu,M., Wang,C., Dai,J., Jin,G.,
            Hu,Z., Shen,H. and Ma,H.
  TITLE     Comprehensive functional interrogation of susceptibility loci in
            GWASs identified KIAA0391 as a novel oncogenic driver via
            regulating pyroptosis in NSCLC
  JOURNAL   Cancer Lett 585, 216646 (2024)
   PUBMED   38262497
  REMARK    GeneRIF: Comprehensive functional interrogation of susceptibility
            loci in GWASs identified KIAA0391 as a novel oncogenic driver via
            regulating pyroptosis in NSCLC.
REFERENCE   2  (bases 1 to 5633)
  AUTHORS   Smith,T.B., Rea,A., Thomas,H.B., Thompson,K., Olahova,M.,
            Maroofian,R., Zamani,M., He,L., Sadeghian,S., Galehdari,H.,
            Lotan,N.S., Gilboa,T., Herman,K.C., McCorvie,T.J., Yue,W.W.,
            Houlden,H., Taylor,R.W., Newman,W.G. and O'Keefe,R.T.
  TITLE     Novel homozygous variants in PRORP expand the genotypic spectrum of
            combined oxidative phosphorylation deficiency 54
  JOURNAL   Eur J Hum Genet 31 (10), 1190-1194 (2023)
   PUBMED   37558808
  REMARK    GeneRIF: Novel homozygous variants in PRORP expand the genotypic
            spectrum of combined oxidative phosphorylation deficiency 54.
REFERENCE   3  (bases 1 to 5633)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 5633)
  AUTHORS   Hochberg,I., Demain,L.A.M., Richer,J., Thompson,K., Urquhart,J.E.,
            Rea,A., Pagarkar,W., Rodriguez-Palmero,A., Schluter,A., Verdura,E.,
            Pujol,A., Quijada-Fraile,P., Amberger,A., Deutschmann,A.J.,
            Demetz,S., Gillespie,M., Belyantseva,I.A., McMillan,H.J.,
            Barzik,M., Beaman,G.M., Motha,R., Ng,K.Y., O'Sullivan,J.,
            Williams,S.G., Bhaskar,S.S., Lawrence,I.R., Jenkinson,E.M.,
            Zambonin,J.L., Blumenfeld,Z., Yalonetsky,S., Oerum,S.,
            Rossmanith,W., Yue,W.W., Zschocke,J., Munro,K.J., Battersby,B.J.,
            Friedman,T.B., Taylor,R.W., O'Keefe,R.T. and Newman,W.G.
  CONSRTM   Genomics England Research Consortium
  TITLE     Bi-allelic variants in the mitochondrial RNase P subunit PRORP
            cause mitochondrial tRNA processing defects and pleiotropic
            multisystem presentations
  JOURNAL   Am J Hum Genet 108 (11), 2195-2204 (2021)
   PUBMED   34715011
  REMARK    GeneRIF: Bi-allelic variants in the mitochondrial RNase P subunit
            PRORP cause mitochondrial tRNA processing defects and pleiotropic
            multisystem presentations.
REFERENCE   5  (bases 1 to 5633)
  AUTHORS   Bhatta,A., Dienemann,C., Cramer,P. and Hillen,H.S.
  TITLE     Structural basis of RNA processing by human mitochondrial RNase P
  JOURNAL   Nat Struct Mol Biol 28 (9), 713-723 (2021)
   PUBMED   34489609
  REMARK    GeneRIF: Structural basis of RNA processing by human mitochondrial
            RNase P.
REFERENCE   6  (bases 1 to 5633)
  AUTHORS   Stuart,P.E., Nair,R.P., Ellinghaus,E., Ding,J., Tejasvi,T.,
            Gudjonsson,J.E., Li,Y., Weidinger,S., Eberlein,B., Gieger,C.,
            Wichmann,H.E., Kunz,M., Ike,R., Krueger,G.G., Bowcock,A.M.,
            Mrowietz,U., Lim,H.W., Voorhees,J.J., Abecasis,G.R.,
            Weichenthal,M., Franke,A., Rahman,P., Gladman,D.D. and Elder,J.T.
  TITLE     Genome-wide association analysis identifies three psoriasis
            susceptibility loci
  JOURNAL   Nat Genet 42 (11), 1000-1004 (2010)
   PUBMED   20953189
REFERENCE   7  (bases 1 to 5633)
  AUTHORS   Alsmadi,O., Muiya,P., Khalak,H., Al-Saud,H., Meyer,B.F.,
            Al-Mohanna,F., Alshahid,M. and Dzimiri,N.
  TITLE     Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer
            a genetic link for myocardial infarction and coronary artery
            disease
  JOURNAL   Ann Hum Genet 73 (Pt 5), 475-483 (2009)
   PUBMED   19624571
  REMARK    GeneRIF: Haplotypes in KIAA0391 and PSMA6 genes is a genetic link
            for myocardial infarction and coronary artery disease.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 5633)
  AUTHORS   Holzmann,J., Frank,P., Loffler,E., Bennett,K.L., Gerner,C. and
            Rossmanith,W.
  TITLE     RNase P without RNA: identification and functional reconstitution
            of the human mitochondrial tRNA processing enzyme
  JOURNAL   Cell 135 (3), 462-474 (2008)
   PUBMED   18984158
REFERENCE   9  (bases 1 to 5633)
  AUTHORS   Kim,J.M., Lee,K.H., Jeon,Y.J., Oh,J.H., Jeong,S.Y., Song,I.S.,
            Kim,J.M., Lee,D.S. and Kim,N.S.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   10 (bases 1 to 5633)
  AUTHORS   Anantharaman,V. and Aravind,L.
  TITLE     The NYN domains: novel predicted RNAses with a PIN domain-like fold
  JOURNAL   RNA Biol 3 (1), 18-27 (2006)
   PUBMED   17114934
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK301931.1, BP373829.1, AI431599.1 and AL121594.6.
            
            On May 31, 2019 this sequence version replaced NM_001256679.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region and initiates translation at a
            downstream, in-frame start codon, compared to variant 1. The
            encoded isoform (3) has a shorter N-terminus, compared to isoform
            1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK301931.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155751, SAMEA2159931
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-768               AK301931.1         6-773
            769-769             BP373829.1         408-408
            770-1701            AK301931.1         775-1706
            1702-2089           AI431599.1         2-389               c
            2090-5633           AL121594.6         23474-27017         c
FEATURES             Location/Qualifiers
     source          1..5633
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.2"
     gene            1..5633
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /note="protein only RNase P catalytic subunit"
                     /db_xref="GeneID:9692"
                     /db_xref="HGNC:HGNC:19958"
                     /db_xref="MIM:609947"
     exon            1..84
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            85..811
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..1577
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /EC_number="3.1.26.5"
                     /note="isoform 3 is encoded by transcript variant 3;
                     mitochondrial ribonuclease P protein 3; mitochondrial
                     RNase P protein 3; mitochondrial RNase P subunit 3;
                     proteinaceous RNase P; mitochondrial ribonuclease P
                     catalytic subunit"
                     /codon_start=1
                     /product="mitochondrial ribonuclease P catalytic subunit
                     isoform 3"
                     /protein_id="NP_001243608.1"
                     /db_xref="CCDS:CCDS58313.1"
                     /db_xref="GeneID:9692"
                     /db_xref="HGNC:HGNC:19958"
                     /db_xref="MIM:609947"
                     /translation="MNSQTEDHALAPVRNTIQLPTQPLNSEEWDKLKEDLKENTGKTS
                     FESWIISQMAGCHSSIDVAKSLLAWVAAKNNGIVSYDLLVKYLYLCVFHMQTSEVIDV
                     FEIMKARYKTLEPRGYSLLIRGLIHSDRWREALLLLEDIKKVITPSKKNYNDCIQGAL
                     LHQDVNTAWNLYQELLGHDIVPMLETLKAFFDFGKDIKDDNYSNKLLDILSYLRNNQL
                     YPGESFAHSIKTWFESVPGKQWKGQFTTVRKSGQCSGCGKTIESIQLSPEEYECLKGK
                     IMRDVIDGGDQYRKTTPQELKRFENFIKSRPPFDVVIDGLNVAKMFPKVRESQLLLNV
                     VSQLAKRNLRLLVLGRKHMLRRSSQWSRDEMEEVQKQASCFFADDISEDDPFLLYATL
                     HSGNHCRFITRDLMRDHKACLPDAKTQRLFFKWQQGHQLAIVNRFPGSKLTFQRILSY
                     DTVVQTTGDSWHIPYDEDLVERCSCEVPTKWLCLHQKT"
     exon            812..859
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            860..992
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1100
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1101..1249
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1250..1445
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1446..5633
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2054..2059
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /note="hexamer: AATAAA"
     polyA_site      2076
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /note="major polyA site"
     regulatory      3466..3471
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /note="hexamer: ATTAAA"
     polyA_site      3495
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
     regulatory      5609..5614
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /note="hexamer: AATAAA"
     polyA_site      5633
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
ORIGIN      
        1 agtttccgcc gcgtttatgg ccgcgttaag tctgagtgcc gctttgagtt gttgaatgaa
       61 gtgaacttca tttgtcagcg ttcgctggag cagctaagga gagatcacag atgaattctc
      121 aaactgaaga tcatgccttg gcacctgtga ggaacactat tcaactccca acacaacctt
      181 tgaattcaga ggagtgggat aaacttaagg aagatttaaa agaaaacacc ggaaagacca
      241 gtttcgaaag ttggatcatt tcacagatgg ctggctgtca tagctctata gatgtggcta
      301 aatctctgct ggcatgggta gcagccaaaa ataatggtat tgtaagttac gatttactgg
      361 tcaagtattt gtatctctgt gtctttcata tgcagacatc tgaagttatt gatgtctttg
      421 aaattatgaa agccagatat aagactttag aacctagagg ttacagtctt ctcatccggg
      481 gattgatcca ttcagacaga tggagagaag cattgttgct gttagaggac atcaaaaaag
      541 ttataactcc ttcaaaaaag aactataatg actgtatcca gggagctctc cttcatcaag
      601 atgtaaacac agcttggaat ttatatcagg aattgctagg tcatgatatt gttcctatgt
      661 tggaaacttt aaaagctttc tttgattttg gaaaagacat aaaggatgat aactattcaa
      721 ataaactact agatattctt tcatatctaa gaaataatca gctgtatcca ggggagtcat
      781 ttgcacacag tataaaaaca tggtttgaga gtgttcctgg aaaacaatgg aaaggacaat
      841 tcaccacagt ccgaaaaagt ggccagtgtt cgggctgtgg aaaaaccata gagtctattc
      901 agctgagtcc agaagaatat gaatgtctta agggaaaaat catgagggat gtgatagatg
      961 gaggtgacca gtacagaaag acaacacctc aggaacttaa gagatttgag aacttcataa
     1021 aatctcgtcc tccttttgat gttgtcattg atggtctcaa tgttgccaaa atgtttccta
     1081 aagttcgtga atctcaactt ctcttgaatg tcgtctctca actagccaaa cggaatctgc
     1141 gactgctggt cctaggccgg aagcacatgc taagacggag ttcccagtgg agtcgggatg
     1201 agatggaaga ggtgcaaaag caagccagct gtttttttgc tgatgacatc tcggaggatg
     1261 atccattcct tctgtatgcc acactgcact ccgggaatca ctgcaggttt atcacaagag
     1321 acctgatgcg ggaccacaag gcctgtctgc ctgatgccaa gacccaacgc ctgtttttta
     1381 agtggcagca gggacatcag ctggcaattg taaataggtt tccaggatca aaactaacct
     1441 ttcagcgtat tctcagctat gacacagtgg tgcaaacaac tggagactcg tggcacatac
     1501 catatgatga agacttggta gaaagatgtt cctgtgaagt accaaccaaa tggctttgcc
     1561 tccaccaaaa gacatagaga ttcttacctc tatgctaagt ttgtgtttgg gtaccctcta
     1621 ggttggcatc agaggctctt gagctggtgt ttgtttaggg cattgcctct gtcctgaaga
     1681 taaaaggatt ctattaacag cattgacatt gattttttaa tgaaatgaga tatatctttt
     1741 cataaccagc tgcgtttttt tcccctaaca tttgtttttg gaggcttatc aagagttgga
     1801 gaacttagtg tagagcaaaa cctgcatttc tcctactggg ccagctattc cacttagctt
     1861 gggtgactaa tagtgctttt ggtatccatt ttttgctact tctgaccttg ccttccaggc
     1921 ctaccaatag cagaatcaat ccatctgtcc ctgagatact catgttgttt caaatgcctc
     1981 ctcccatttc tggcatagtc tcattctctg tatgttatgc cctatccaca tggaatcatt
     2041 tatcgtcctc tgtaataaac tggccaagat actaaaggct tactattcat agcagttttt
     2101 aattacttat catccaatta tttggattgg agaagagggg gcattcactc ctctttttct
     2161 tatttttttt ggaaatagag tctcaactta ctctgtcgcc agggctggag tgcagtgacg
     2221 tgatcacagt tcactgcagc ctcaaactcc caggctcaag caatcttcct acctcagccc
     2281 tcctgagtaa ttgggactac aggcatgtat caccaggctt ggctaatttt tttttttttt
     2341 tttgtagaga tggctgtctc actctgttga caagactagt ctccaacccc tggcctcagt
     2401 cgatccccag caatttggga gattgaagcg agagaatcac ttgagtctag gagttcaaga
     2461 ccagcctagg caacatagta agatctcatt tctacaaaaa atttaaaaat tagccaggca
     2521 tggtagtttg cacacatagt cccagctact ttgggggctg aggtaggagg attgcttgag
     2581 cctcagaggt caaggctgca atgagccaac gttgcaccac tgcactctag cctgggtgac
     2641 agagcgagac cttgtctcaa aacaaaacaa agtgctggaa ttgcagactt gagccacagt
     2701 gcccagcctc acttctctag actatgatgg ttttttcttc attctataat ctcttttcca
     2761 aattggttca acattttgtg aacactatta atttcatcat tcagtatatg tgggctttct
     2821 aaaatatgcc aatttttttc cacttaatca agtttgactt aatttaacaa agtgattata
     2881 ttttaatagt tacatttctg ttttttccac tcactagcca gcttacagtt tattagccct
     2941 tgatttcagc tgaaaatatt catgtctgca ccccttcatg atagttcttt ctttacgtat
     3001 acatactgta ttcaatatgc aagaacaggc aaaaactact ctattgtgat aaaaatcaga
     3061 atagtaattg cctgaggaaa gggatatgag agaacttgag agaactttct cggggtgatg
     3121 gaaagtttct tatattgatt tgggtaatag taacatagct atatgtatat attagttaaa
     3181 attcctcaca ctaaacattt taaattgata tatttacatt tatgacaata tacctcaaag
     3241 taagttaggg taagaaaaga taattactta catgaaataa acaatgacct cttttatatc
     3301 aaaccatata catgtgtata attagggtat gtattatgca cagagaaaca atttaggaaa
     3361 atccaaggag gggacgtttt atcttcttac ctatttactg aatgcaacat tactgcacac
     3421 caagacaaaa gagctctcca ggaaaacatt ggatatattg agagcattaa aagatactgc
     3481 aaaagctcta ataaattcag tctgcttatt ttccaaattt cataaactac atacttagga
     3541 aactgtgctt tcagtgagct aaacttcttt ttttaagtaa ctatcatagt tttaagaaaa
     3601 acattttaag aagacaaaaa gtatttatta agcccatcta aaaggctaat gcaaattccc
     3661 aaaaaaggag cacatagaga tagaggagga ggccgaagtg gtggctcata cctgttaatt
     3721 ccagcacttt gggaggccaa gacaggagga tcactttagg cccagagttg gagaccaacc
     3781 tgggcaacat agcaagaccc tgtctcttaa aaaaaaaaaa aaaagacggg agaagctaca
     3841 agaagaaaac tagaacttta gagcaggagt aaccttagag catgtaaagt ccattttgga
     3901 gatgaggaac agacccagga agatgacctg gcttccctga atcccacggc tagttagtgc
     3961 agacatttca gccataaccc agctcttcta attcccaaat actctttctt ctactggcac
     4021 atagagatgg gggaggagtc agggcatggt ggcccacacc tacagttcca gcactttggg
     4081 aggccaaatg ggagaattgc ttgaagccag gagttggaga ccagcctagg caacacaggg
     4141 agacccgtgt cgacaaaaaa tttaaaaatt agctgggcat ggtagcacat gcctgtggtc
     4201 ccagctactc agaaggctga ggtgggagga tcacttgagc cccagaggtc aaggctacag
     4261 tgagctatga tcatgctact acactccagc ctaggtgaca gagtgagacc ctgtctcaaa
     4321 gggagggagg taagaatgag aagaaggaac aggggtgtac ctcttttaag ggcccaagta
     4381 tcctgaatgg ctcagcagta tagaacattg tggtagagaa attacatttt aaaataactc
     4441 taatactgtt tagaaacaaa accctaactt ctgcttgaga taaactgaag tgcatctgtc
     4501 ccttgtccag gagtggggaa ccattgtagg gttgctcagc ataagtcata ctgccacggt
     4561 gaccttgagg agtgcaggga ttccctgaag gaagcagctg gtaccagaca cttaggctgc
     4621 ccatttgtgt tctgatcatt tgagtgaaaa aaaggtacct gtcaagcaag ctcctggaca
     4681 ccacaagaag gaggaattat tttaaaagct gtactcttaa attgttagta tctttaaaat
     4741 cagttgtgaa caatgaagga tttgaaagag cattgacttt gccacttaaa agtatttcta
     4801 aaatactttg tgcttccccc ttgcattctg aatttataca cttttcctcc tgctgttctc
     4861 agacccagtg gaaagaaaat ctcaaggaag aaggctgagt ttattctctc agggctctgt
     4921 tgggtctacc tcatctgagg tggcttattc ttcataggaa attaattttt cttctcaagt
     4981 atgcacttaa atataattac tgcttccttg gtcctctagc agatttctca cttttattta
     5041 tttttttttt tgagacagag tcttgatctt ttttcatcta ggctggagtg caatggtttg
     5101 atctcagttc actgcaacct ctgcctcctg ggttcaagca attctcatgc ctctgcctct
     5161 cgggcagctg gaattacagg catgcgccat gacgcctggc taatttttgc atttttagta
     5221 gagacgggtt ttcaccatgt tgccccggtt gctctcaaac tcctgacctc aggtgatcca
     5281 cccacctcag cctcccaaag tgctgggatt acaggtgtga gtcaccccgc acagcctgaa
     5341 atgaggcatc tctatctata gtccagcagc cctacaggag gcaggagggg agcaagaata
     5401 agaaaggaaa tttgtaaaag gcacttagga gtgagcagaa aggaaatagg accagctttt
     5461 acctgcccag tcctggccag tgacaagcag tctgcttgag tctgtgctaa ataaacaaag
     5521 gaagttccat ttagagctct acagagggga agccatagaa attaacagga tgaaaataca
     5581 agagacagga acacagatga ataaatgtaa taaaatttga gaaataatct tta
//
