LOCUS       NM_203387               1952 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens ribonuclease/angiogenin inhibitor 1 (RNH1), transcript
            variant 6, mRNA.
ACCESSION   NM_203387
VERSION     NM_203387.3
KEYWORDS    RefSeq; MANE Select.
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 1952)
  AUTHORS   Zhao,W., Liu,Y., Yang,Y. and Wang,L.
  TITLE     New link between RNH1 and E2F1: regulates the development of lung
            adenocarcinoma
  JOURNAL   BMC Cancer 24 (1), 635 (2024)
   PUBMED   38783241
  REMARK    GeneRIF: New link between RNH1 and E2F1: regulates the development
            of lung adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1952)
  AUTHORS   Shashi,V., Schoch,K., Ganetzky,R., Kranz,P.G., Sondheimer,N.,
            Markert,M.L., Cope,H., Sadeghpour,A., Roehrs,P., Arbogast,T.,
            Muraresku,C., Tyndall,A.V., Esser,M.J., Woodward,K.E., Ping-Yee
            Au,B., Parboosingh,J.S., Lamont,R.E., Bernier,F.P., Wright,N.A.M.,
            Benseler,S.M., Parsons,S.J., El-Dairi,M., Smith,E.C., Valdez,P.,
            Tennison,M., Innes,A.M. and Davis,E.E.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     Biallelic variants in ribonuclease inhibitor (RNH1), an
            inflammasome modulator, are associated with a distinctive subtype
            of acute, necrotizing encephalopathy
  JOURNAL   Genet Med 25 (9), 100897 (2023)
   PUBMED   37191094
  REMARK    GeneRIF: Biallelic variants in ribonuclease inhibitor (RNH1), an
            inflammasome modulator, are associated with a distinctive subtype
            of acute, necrotizing encephalopathy.
REFERENCE   3  (bases 1 to 1952)
  AUTHORS   Chen,S., Ran,J., Fan,Z., Liu,M., Wu,L., Li,Q., Peng,J. and Hu,Z.
  TITLE     Functional status analysis of RNH1 in bladder cancer for predicting
            immunotherapy response
  JOURNAL   Sci Rep 13 (1), 12625 (2023)
   PUBMED   37537337
  REMARK    GeneRIF: Functional status analysis of RNH1 in bladder cancer for
            predicting immunotherapy response.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1952)
  AUTHORS   Hedberg-Oldfors,C., Mitra,S., Molinaro,A., Visuttijai,K.,
            Fogelstrand,L., Oldfors,A., Sterky,F.H. and Darin,N.
  TITLE     Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital
            cataracts and global developmental delay with infection-induced
            psychomotor regression and anemia
  JOURNAL   Eur J Hum Genet 31 (8), 887-894 (2023)
   PUBMED   36935417
  REMARK    GeneRIF: Ribonuclease inhibitor 1 (RNH1) deficiency cause
            congenital cataracts and global developmental delay with
            infection-induced psychomotor regression and anemia.
REFERENCE   5  (bases 1 to 1952)
  AUTHORS   Bombaci,G., Sarangdhar,M.A., Andina,N., Tardivel,A., Yu,E.C.,
            Mackie,G.M., Pugh,M., Ozan,V.B., Banz,Y., Spinetti,T., Hirzel,C.,
            Youd,E., Schefold,J.C., Taylor,G., Gazdhar,A., Bonadies,N.,
            Angelillo-Scherrer,A., Schneider,P., Maslowski,K.M. and Allam,R.
  TITLE     LRR-protein RNH1 dampens the inflammasome activation and is
            associated with COVID-19 severity
  JOURNAL   Life Sci Alliance 5 (6), e202101226 (2022)
   PUBMED   35256513
  REMARK    GeneRIF: LRR-protein RNH1 dampens the inflammasome activation and
            is associated with COVID-19 severity.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1952)
  AUTHORS   Weremowicz,S., Fox,E.A., Morton,C.C. and Vallee,B.L.
  TITLE     The placental ribonuclease inhibitor (RNH) gene is located on
            chromosome subband 11p15.5
  JOURNAL   Genomics 8 (4), 717-721 (1990)
   PUBMED   2276743
REFERENCE   7  (bases 1 to 1952)
  AUTHORS   Zneimer,S.M., Crawford,D., Schneider,N.R. and Beutler,B.
  TITLE     Mapping of the human ribonuclease inhibitor gene (RNH) to
            chromosome 11p15 by in situ hybridization
  JOURNAL   Genomics 8 (1), 175-178 (1990)
   PUBMED   2081593
REFERENCE   8  (bases 1 to 1952)
  AUTHORS   Lee,F.S. and Vallee,B.L.
  TITLE     Binding of placental ribonuclease inhibitor to the active site of
            angiogenin
  JOURNAL   Biochemistry 28 (8), 3556-3561 (1989)
   PUBMED   2742853
REFERENCE   9  (bases 1 to 1952)
  AUTHORS   Hofsteenge,J., Kieffer,B., Matthies,R., Hemmings,B.A. and
            Stone,S.R.
  TITLE     Amino acid sequence of the ribonuclease inhibitor from porcine
            liver reveals the presence of leucine-rich repeats
  JOURNAL   Biochemistry 27 (23), 8537-8544 (1988)
   PUBMED   3219361
REFERENCE   10 (bases 1 to 1952)
  AUTHORS   Bond,M.D. and Vallee,B.L.
  TITLE     Isolation of bovine angiogenin using a placental ribonuclease
            inhibitor binding assay
  JOURNAL   Biochemistry 27 (17), 6282-6287 (1988)
   PUBMED   3064806
  REMARK    Erratum:[Biochemistry 1989 Feb 21;28(4):1930]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC137894.5, DC296330.1 and BC011186.1.
            
            On Nov 23, 2018 this sequence version replaced NM_203387.2.
            
            Summary: Placental ribonuclease inhibitor (PRI) is a member of a
            family of proteinaceous cytoplasmic RNase inhibitors that occur in
            many tissues and bind to both intracellular and extracellular
            RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In
            addition to control of intracellular RNases, the inhibitor may have
            a role in the regulation of angiogenin (MIM 105850). Ribonuclease
            inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a
            latent form. Since neutral and alkaline ribonucleases probably play
            a critical role in the turnover of RNA in eukaryotic cells, RNH may
            be essential for control of mRNA turnover; the interaction of
            eukaryotic cells with ribonuclease may be reversible in
            vivo.[supplied by OMIM, Jul 2010].
            
            Transcript Variant: This variant (6) contains a different exon in
            its 5' UTR, compared to variant 1. All eight variants of this gene
            encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR14038194.1637396.1,
                                           SRR14038191.1945895.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2161674
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354420.7/ ENSP00000346402.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-130               AC137894.5         128801-128930       c
            131-432             DC296330.1         84-385
            433-1952            BC011186.1         1-1520
FEATURES             Location/Qualifiers
     source          1..1952
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..1952
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /note="ribonuclease/angiogenin inhibitor 1"
                     /db_xref="GeneID:6050"
                     /db_xref="HGNC:HGNC:10074"
                     /db_xref="MIM:173320"
     exon            1..130
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /inference="alignment:Splign:2.1.0"
     exon            131..303
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /inference="alignment:Splign:2.1.0"
     exon            304..491
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /inference="alignment:Splign:2.1.0"
     CDS             391..1776
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /note="placental RNase inhibitor; placental ribonuclease
                     inhibitor; testicular tissue protein Li 164"
                     /codon_start=1
                     /product="ribonuclease inhibitor"
                     /protein_id="NP_976321.1"
                     /db_xref="CCDS:CCDS7697.1"
                     /db_xref="GeneID:6050"
                     /db_xref="HGNC:HGNC:10074"
                     /db_xref="MIM:173320"
                     /translation="MSLDIQSLDIQCEELSDARWAELLPLLQQCQVVRLDDCGLTEAR
                     CKDISSALRVNPALAELNLRSNELGDVGVHCVLQGLQTPSCKIQKLSLQNCCLTGAGC
                     GVLSSTLRTLPTLQELHLSDNLLGDAGLQLLCEGLLDPQCRLEKLQLEYCSLSAASCE
                     PLASVLRAKPDFKELTVSNNDINEAGVRVLCQGLKDSPCQLEALKLESCGVTSDNCRD
                     LCGIVASKASLRELALGSNKLGDVGMAELCPGLLHPSSRLRTLWIWECGITAKGCGDL
                     CRVLRAKESLKELSLAGNELGDEGARLLCETLLEPGCQLESLWVKSCSFTAACCSHFS
                     SVLAQNRFLLELQISNNRLEDAGVRELCQGLGQPGSVLRVLWLADCDVSDSSCSSLAA
                     TLLANHSLRELDLSNNCLGDAGILQLVESVRQPGCLLEQLVLYDIYWSEEMEDRLQAL
                     EKDKPSLRVIS"
     exon            492..662
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /inference="alignment:Splign:2.1.0"
     exon            663..833
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /inference="alignment:Splign:2.1.0"
     exon            834..1004
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..1175
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /inference="alignment:Splign:2.1.0"
     exon            1176..1346
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /inference="alignment:Splign:2.1.0"
     exon            1347..1517
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /inference="alignment:Splign:2.1.0"
     exon            1518..1688
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..1952
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1933..1938
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /note="hexamer: ATTAAA"
     polyA_site      1952
                     /gene="RNH1"
                     /gene_synonym="IIAE12; RAI; RNH"
                     /note="major polyA site"
ORIGIN      
        1 gaacacgccc gcgccgctga ctggcgggtg gggttgtcga cacgttcaac ccgttctgct
       61 ggctcgagaa cgaagtaggc cgtctcgctc tgggtctcca ggcccgcgac cgtccgccag
      121 tcgtcccgag gcatgaagaa ctcttgactg acagaaacgg agggtgtgtc caaagttttg
      181 aggacggccg agcggcgctc caaaacccgt cctcacagcc tcgccccgtt cgcctcagct
      241 acaacaaatc atcgtcaacc tgttccacct tctccagtct ggtagcaaaa aggggtgtct
      301 cagaatctcc ggcctgtgaa actgtgaggg gattcggcca agacgtcctc ttccctctgc
      361 ctcccaccca ggccactctt cacctccacc atgagcctgg acatccagag cctggacatc
      421 cagtgtgagg agctgagcga cgctagatgg gccgagctcc tccctctgct ccagcagtgc
      481 caagtggtca ggctggacga ctgtggcctc acggaagcac ggtgcaagga catcagctct
      541 gcacttcgag tcaaccctgc actggcagag ctcaacctgc gcagcaacga gctgggcgat
      601 gtcggcgtgc attgcgtgct ccagggcctg cagaccccct cctgcaagat ccagaagctg
      661 agcctccaga actgctgcct gacgggggcc ggctgcgggg tcctgtccag cacactacgc
      721 accctgccca ccctgcagga gctgcacctc agcgacaacc tcttggggga tgcgggcctg
      781 cagctgctct gcgaaggact cctggacccc cagtgccgcc tggaaaagct gcagctggag
      841 tattgcagcc tctcggctgc cagctgcgag cccctggcct ccgtgctcag ggccaagccg
      901 gacttcaagg agctcacggt tagcaacaac gacatcaatg aggctggcgt ccgtgtgctg
      961 tgccagggcc tgaaggactc cccctgccag ctggaggcgc tcaagctgga gagctgcggt
     1021 gtgacatcag acaactgccg ggacctgtgc ggcattgtgg cctccaaggc ctcgctgcgg
     1081 gagctggccc tgggcagcaa caagctgggt gatgtgggca tggcggagct gtgcccaggg
     1141 ctgctccacc ccagctccag gctcaggacc ctgtggatct gggagtgtgg catcactgcc
     1201 aagggctgcg gggatctgtg ccgtgtcctc agggccaagg agagcctgaa ggagctcagc
     1261 ctggccggca acgagctggg ggatgagggt gcccgactgc tgtgtgagac cctgctggaa
     1321 cctggctgcc agctggagtc gctgtgggtg aagtcctgca gcttcacagc cgcctgctgc
     1381 tcccacttca gctcagtgct ggcccagaac aggtttctcc tggagctaca gataagcaac
     1441 aacaggctgg aggatgcggg cgtgcgggag ctgtgccagg gcctgggcca gcctggctct
     1501 gtgctgcggg tgctctggtt ggccgactgc gatgtgagtg acagcagctg cagcagcctc
     1561 gccgcaaccc tgttggccaa ccacagcctg cgtgagctgg acctcagcaa caactgcctg
     1621 ggggacgccg gcatcctgca gctggtggag agcgtccggc agccgggctg cctcctggag
     1681 cagctggtcc tgtacgacat ttactggtct gaggagatgg aggaccggct gcaggccctg
     1741 gagaaggaca agccatccct gagggtcatc tcctgaggct cttcctgctg ctgctctccc
     1801 tggacgaccg gcctcgaggc aaccctgggg cccaccagcc cctgccatgc tctcaccctg
     1861 catatcctag gtttgaagag aaacgctcag atccgcttat ttctgccagt atattttgga
     1921 cactttataa tcattaaagc actttcttgg ca
//
