LOCUS       NM_001256681            5133 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens protein only RNase P catalytic subunit (PRORP),
            transcript variant 5, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001256681
VERSION     NM_001256681.2
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 5133)
  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 5133)
  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 5133)
  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 5133)
  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 5133)
  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 5133)
  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 5133)
  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 5133)
  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 5133)
  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 5133)
  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
            DC404874.1, BQ063741.1, DT217089.1, AI431599.1 and AL121594.6.
            
            On Aug 13, 2020 this sequence version replaced NM_001256681.1.
            
            Transcript Variant: This variant (5) 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. Variants 4
            and 5 encode the same isoform (4), which 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 :: SRR14038192.1648288.1,
                                           SRR14372079.2470708.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-136               DC404874.1         1-136
            137-634             BQ063741.1         1-498
            635-1118            DT217089.1         139-622
            1119-1589           AI431599.1         2-472               c
            1590-5133           AL121594.6         23474-27017         c
FEATURES             Location/Qualifiers
     source          1..5133
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.2"
     gene            1..5133
                     /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..359
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            360..492
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             442..1077
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /EC_number="3.1.26.5"
                     /note="isoform 4 is encoded by transcript variant 5;
                     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 4"
                     /protein_id="NP_001243610.1"
                     /db_xref="CCDS:CCDS58314.1"
                     /db_xref="GeneID:9692"
                     /db_xref="HGNC:HGNC:19958"
                     /db_xref="MIM:609947"
                     /translation="MRDVIDGGDQYRKTTPQELKRFENFIKSRPPFDVVIDGLNVAKM
                     FPKVRESQLLLNVVSQLAKRNLRLLVLGRKHMLRRSSQWSRDEMEEVQKQASCFFADD
                     ISEDDPFLLYATLHSGNHCRFITRDLMRDHKACLPDAKTQRLFFKWQQGHQLAIVNRF
                     PGSKLTFQRILSYDTVVQTTGDSWHIPYDEDLVERCSCEVPTKWLCLHQKT"
     exon            493..600
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            601..749
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            750..945
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     exon            946..5133
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1554..1559
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /note="hexamer: AATAAA"
     polyA_site      1576
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /note="major polyA site"
     regulatory      2966..2971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /note="hexamer: ATTAAA"
     polyA_site      2995
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
     regulatory      5109..5114
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
                     /note="hexamer: AATAAA"
     polyA_site      5133
                     /gene="PRORP"
                     /gene_synonym="COXPD54; KIAA0391; MRPP3"
ORIGIN      
        1 agtttccgcc gcgtttatgg ccgcgttaag tctgagtgcc gctttgagtt gttgaatgaa
       61 gtgaacttca tttgtcagcg ttcggtacgc agtctaggca gcgcccttcc tgtacctctc
      121 ttcctttcct gagtcgttgg cgcagctgac tcgccacctc ctccctcctc gtccccccac
      181 cggaggagtt ttgcggtctg tagagagcta tgcagggtga gggcccctag acttcggctt
      241 tcgccgctgt tggtggtagg ctggagttgg gggtccctgg atacggtttt ggctttacac
      301 cccctttcca gcaagcttcc cgtgggaatc tgttcctttt caggacagct gtgatccact
      361 ggccagtgtt cgggctgtgg aaaaaccata gagtctattc agctgagtcc agaagaatat
      421 gaatgtctta agggaaaaat catgagggat gtgatagatg gaggtgacca gtacagaaag
      481 acaacacctc aggaacttaa gagatttgag aacttcataa aatctcgtcc tccttttgat
      541 gttgtcattg atggtctcaa tgttgccaaa atgtttccta aagttcgtga atctcaactt
      601 ctcttgaatg tcgtctctca actagccaaa cggaatctgc gactgctggt cctaggccgg
      661 aagcacatgc taagacggag ttcccagtgg agtcgggatg agatggaaga ggtgcaaaag
      721 caagccagct gtttttttgc tgatgacatc tcggaggatg atccattcct tctgtatgcc
      781 acactgcact ccgggaatca ctgcaggttt atcacaagag acctgatgcg ggaccacaag
      841 gcctgtctgc ctgatgccaa gacccaacgc ctgtttttta agtggcagca gggacatcag
      901 ctggcaattg taaataggtt tccaggatca aaactaacct ttcagcgtat tctcagctat
      961 gacacagtgg tgcaaacaac tggagactcg tggcacatac catatgatga agacttggta
     1021 gaaagatgtt cctgtgaagt accaaccaaa tggctttgcc tccaccaaaa gacatagaga
     1081 ttcttacctc tatgctaagt ttgtgtttgg gtaccctcta ggttggcatc agaggctctt
     1141 gagctggtgt ttgtttaggg cattgcctct gtcctgaaga taaaaggatt ctattaacag
     1201 cattgacatt gattttttaa tgaaatgaga tatatctttt cataaccagc tgcgtttttt
     1261 tcccctaaca tttgtttttg gaggcttatc aagagttgga gaacttagtg tagagcaaaa
     1321 cctgcatttc tcctactggg ccagctattc cacttagctt gggtgactaa tagtgctttt
     1381 ggtatccatt ttttgctact tctgaccttg ccttccaggc ctaccaatag cagaatcaat
     1441 ccatctgtcc ctgagatact catgttgttt caaatgcctc ctcccatttc tggcatagtc
     1501 tcattctctg tatgttatgc cctatccaca tggaatcatt tatcgtcctc tgtaataaac
     1561 tggccaagat actaaaggct tactattcat agcagttttt aattacttat catccaatta
     1621 tttggattgg agaagagggg gcattcactc ctctttttct tatttttttt ggaaatagag
     1681 tctcaactta ctctgtcgcc agggctggag tgcagtgacg tgatcacagt tcactgcagc
     1741 ctcaaactcc caggctcaag caatcttcct acctcagccc tcctgagtaa ttgggactac
     1801 aggcatgtat caccaggctt ggctaatttt tttttttttt tttgtagaga tggctgtctc
     1861 actctgttga caagactagt ctccaacccc tggcctcagt cgatccccag caatttggga
     1921 gattgaagcg agagaatcac ttgagtctag gagttcaaga ccagcctagg caacatagta
     1981 agatctcatt tctacaaaaa atttaaaaat tagccaggca tggtagtttg cacacatagt
     2041 cccagctact ttgggggctg aggtaggagg attgcttgag cctcagaggt caaggctgca
     2101 atgagccaac gttgcaccac tgcactctag cctgggtgac agagcgagac cttgtctcaa
     2161 aacaaaacaa agtgctggaa ttgcagactt gagccacagt gcccagcctc acttctctag
     2221 actatgatgg ttttttcttc attctataat ctcttttcca aattggttca acattttgtg
     2281 aacactatta atttcatcat tcagtatatg tgggctttct aaaatatgcc aatttttttc
     2341 cacttaatca agtttgactt aatttaacaa agtgattata ttttaatagt tacatttctg
     2401 ttttttccac tcactagcca gcttacagtt tattagccct tgatttcagc tgaaaatatt
     2461 catgtctgca ccccttcatg atagttcttt ctttacgtat acatactgta ttcaatatgc
     2521 aagaacaggc aaaaactact ctattgtgat aaaaatcaga atagtaattg cctgaggaaa
     2581 gggatatgag agaacttgag agaactttct cggggtgatg gaaagtttct tatattgatt
     2641 tgggtaatag taacatagct atatgtatat attagttaaa attcctcaca ctaaacattt
     2701 taaattgata tatttacatt tatgacaata tacctcaaag taagttaggg taagaaaaga
     2761 taattactta catgaaataa acaatgacct cttttatatc aaaccatata catgtgtata
     2821 attagggtat gtattatgca cagagaaaca atttaggaaa atccaaggag gggacgtttt
     2881 atcttcttac ctatttactg aatgcaacat tactgcacac caagacaaaa gagctctcca
     2941 ggaaaacatt ggatatattg agagcattaa aagatactgc aaaagctcta ataaattcag
     3001 tctgcttatt ttccaaattt cataaactac atacttagga aactgtgctt tcagtgagct
     3061 aaacttcttt ttttaagtaa ctatcatagt tttaagaaaa acattttaag aagacaaaaa
     3121 gtatttatta agcccatcta aaaggctaat gcaaattccc aaaaaaggag cacatagaga
     3181 tagaggagga ggccgaagtg gtggctcata cctgttaatt ccagcacttt gggaggccaa
     3241 gacaggagga tcactttagg cccagagttg gagaccaacc tgggcaacat agcaagaccc
     3301 tgtctcttaa aaaaaaaaaa aaaagacggg agaagctaca agaagaaaac tagaacttta
     3361 gagcaggagt aaccttagag catgtaaagt ccattttgga gatgaggaac agacccagga
     3421 agatgacctg gcttccctga atcccacggc tagttagtgc agacatttca gccataaccc
     3481 agctcttcta attcccaaat actctttctt ctactggcac atagagatgg gggaggagtc
     3541 agggcatggt ggcccacacc tacagttcca gcactttggg aggccaaatg ggagaattgc
     3601 ttgaagccag gagttggaga ccagcctagg caacacaggg agacccgtgt cgacaaaaaa
     3661 tttaaaaatt agctgggcat ggtagcacat gcctgtggtc ccagctactc agaaggctga
     3721 ggtgggagga tcacttgagc cccagaggtc aaggctacag tgagctatga tcatgctact
     3781 acactccagc ctaggtgaca gagtgagacc ctgtctcaaa gggagggagg taagaatgag
     3841 aagaaggaac aggggtgtac ctcttttaag ggcccaagta tcctgaatgg ctcagcagta
     3901 tagaacattg tggtagagaa attacatttt aaaataactc taatactgtt tagaaacaaa
     3961 accctaactt ctgcttgaga taaactgaag tgcatctgtc ccttgtccag gagtggggaa
     4021 ccattgtagg gttgctcagc ataagtcata ctgccacggt gaccttgagg agtgcaggga
     4081 ttccctgaag gaagcagctg gtaccagaca cttaggctgc ccatttgtgt tctgatcatt
     4141 tgagtgaaaa aaaggtacct gtcaagcaag ctcctggaca ccacaagaag gaggaattat
     4201 tttaaaagct gtactcttaa attgttagta tctttaaaat cagttgtgaa caatgaagga
     4261 tttgaaagag cattgacttt gccacttaaa agtatttcta aaatactttg tgcttccccc
     4321 ttgcattctg aatttataca cttttcctcc tgctgttctc agacccagtg gaaagaaaat
     4381 ctcaaggaag aaggctgagt ttattctctc agggctctgt tgggtctacc tcatctgagg
     4441 tggcttattc ttcataggaa attaattttt cttctcaagt atgcacttaa atataattac
     4501 tgcttccttg gtcctctagc agatttctca cttttattta tttttttttt tgagacagag
     4561 tcttgatctt ttttcatcta ggctggagtg caatggtttg atctcagttc actgcaacct
     4621 ctgcctcctg ggttcaagca attctcatgc ctctgcctct cgggcagctg gaattacagg
     4681 catgcgccat gacgcctggc taatttttgc atttttagta gagacgggtt ttcaccatgt
     4741 tgccccggtt gctctcaaac tcctgacctc aggtgatcca cccacctcag cctcccaaag
     4801 tgctgggatt acaggtgtga gtcaccccgc acagcctgaa atgaggcatc tctatctata
     4861 gtccagcagc cctacaggag gcaggagggg agcaagaata agaaaggaaa tttgtaaaag
     4921 gcacttagga gtgagcagaa aggaaatagg accagctttt acctgcccag tcctggccag
     4981 tgacaagcag tctgcttgag tctgtgctaa ataaacaaag gaagttccat ttagagctct
     5041 acagagggga agccatagaa attaacagga tgaaaataca agagacagga acacagatga
     5101 ataaatgtaa taaaatttga gaaataatct tta
//
