LOCUS       NM_017619               2144 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens RNA binding region (RNP1, RRM) containing 3 (RNPC3),
            mRNA.
ACCESSION   NM_017619 XM_351275
VERSION     NM_017619.4
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 2144)
  AUTHORS   Yavas Abali,Z., Gokpinar Ili,E., Bas,F., Ulak Ozkan,M., Gulec,C.,
            Toksoy,G., Ozturk,A.P., Karakilic Ozturan,E., Aslanger,A.,
            Caliskan,M., Yesil,G., Poyrazoglu,S., Darendeliler,F. and Oya
            Uyguner,Z.
  TITLE     A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with
            Congenital Hypopituitarism and Neuropathy
  JOURNAL   Horm Res Paediatr 97 (2), 157-164 (2024)
   PUBMED   37463572
  REMARK    GeneRIF: A Novel RNPC3 Gene Variant Expands the Phenotype in
            Patients with Congenital Hypopituitarism and Neuropathy.
REFERENCE   2  (bases 1 to 2144)
  AUTHORS   Akin,L., Rizzoti,K., Gregory,L.C., Corredor,B., Le Quesne
            Stabej,P., Williams,H., Buonocore,F., Mouilleron,S., Capra,V.,
            McGlacken-Byrne,S.M., Martos-Moreno,G.A., Azmanov,D.N.,
            Kendirci,M., Kurtoglu,S., Suntharalingham,J.P., Galichet,C.,
            Gustincich,S., Tasic,V., Achermann,J.C., Accogli,A., Filipovska,A.,
            Tuilpakov,A., Maghnie,M., Gucev,Z., Gonen,Z.B., Perez-Jurado,L.A.,
            Robinson,I., Lovell-Badge,R., Argente,J. and Dattani,M.T.
  TITLE     Pathogenic variants in RNPC3 are associated with hypopituitarism
            and primary ovarian insufficiency
  JOURNAL   Genet Med 24 (2), 384-397 (2022)
   PUBMED   34906446
  REMARK    GeneRIF: Pathogenic variants in RNPC3 are associated with
            hypopituitarism and primary ovarian insufficiency.
REFERENCE   3  (bases 1 to 2144)
  AUTHORS   Yamada,M., Ono,M., Ishii,T., Suzuki,H., Uehara,T., Takenouchi,T.
            and Kosaki,K.
  TITLE     Establishing intellectual disability as the key feature of patients
            with biallelic RNPC3 variants
  JOURNAL   Am J Med Genet A 185 (6), 1836-1840 (2021)
   PUBMED   33650182
  REMARK    GeneRIF: Establishing intellectual disability as the key feature of
            patients with biallelic RNPC3 variants.
REFERENCE   4  (bases 1 to 2144)
  AUTHORS   Verberne,E.A., Faries,S., Mannens,M.M.A.M., Postma,A.V. and van
            Haelst,M.M.
  TITLE     Expanding the phenotype of biallelic RNPC3 variants associated with
            growth hormone deficiency
  JOURNAL   Am J Med Genet A 182 (8), 1952-1956 (2020)
   PUBMED   32462814
  REMARK    GeneRIF: Expanding the phenotype of biallelic RNPC3 variants
            associated with growth hormone deficiency.
            Erratum:[EMBO Mol Med. 2020 Sep 7;12(9):e13132. doi:
            10.15252/emmm.202013132.. PMID: 32893466]
REFERENCE   5  (bases 1 to 2144)
  AUTHORS   Norppa,A.J., Kauppala,T.M., Heikkinen,H.A., Verma,B., Iwai,H. and
            Frilander,M.J.
  TITLE     Mutations in the U11/U12-65K protein associated with isolated
            growth hormone deficiency lead to structural destabilization and
            impaired binding of U12 snRNA
  JOURNAL   RNA 24 (3), 396-409 (2018)
   PUBMED   29255062
  REMARK    GeneRIF: The authores propose that both the C-RRM folding defect
            and nonsense-mediated decay (NMD)-mediated decrease in the levels
            of the U11/U12-65K protein reduce formation of the U12-type intron
            recognition complex and missplicing of a subset of minor introns
            leading to pituitary hypoplasia and a subsequent defect in growth
            hormone secretion.
REFERENCE   6  (bases 1 to 2144)
  AUTHORS   Satoh,J., Obayashi,S., Misawa,T., Sumiyoshi,K., Oosumi,K. and
            Tabunoki,H.
  TITLE     Protein microarray analysis identifies human cellular prion protein
            interactors
  JOURNAL   Neuropathol Appl Neurobiol 35 (1), 16-35 (2009)
   PUBMED   18482256
REFERENCE   7  (bases 1 to 2144)
  AUTHORS   Pessa,H.K., Will,C.L., Meng,X., Schneider,C., Watkins,N.J.,
            Perala,N., Nymark,M., Turunen,J.J., Luhrmann,R. and Frilander,M.J.
  TITLE     Minor spliceosome components are predominantly localized in the
            nucleus
  JOURNAL   Proc Natl Acad Sci U S A 105 (25), 8655-8660 (2008)
   PUBMED   18559850
REFERENCE   8  (bases 1 to 2144)
  AUTHORS   Benecke,H., Luhrmann,R. and Will,C.L.
  TITLE     The U11/U12 snRNP 65K protein acts as a molecular bridge, binding
            the U12 snRNA and U11-59K protein
  JOURNAL   EMBO J 24 (17), 3057-3069 (2005)
   PUBMED   16096647
  REMARK    GeneRIF: U11/U12-65K contribute to di-snRNP formation and intron
            bridging in the minor prespliceosome
REFERENCE   9  (bases 1 to 2144)
  AUTHORS   Will,C.L., Schneider,C., Hossbach,M., Urlaub,H., Rauhut,R.,
            Elbashir,S., Tuschl,T. and Luhrmann,R.
  TITLE     The human 18S U11/U12 snRNP contains a set of novel proteins not
            found in the U2-dependent spliceosome
  JOURNAL   RNA 10 (6), 929-941 (2004)
   PUBMED   15146077
REFERENCE   10 (bases 1 to 2144)
  AUTHORS   Zhao,E., Li,J., Xie,Y., Jin,W., Zhang,Z., Chen,J., Zeng,L., Yin,G.,
            Qian,J., Wu,H., Ying,K., Zhao,R.C. and Mao,Y.
  TITLE     Cloning and identification of a novel human RNPC3 gene that encodes
            a protein with two RRM domains and is expressed in the cell nucleus
  JOURNAL   Biochem Genet 41 (9-10), 315-323 (2003)
   PUBMED   14974681
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC095032.3, CN386195.1,
            AY099329.1 and BC010697.1.
            
            On Nov 23, 2018 this sequence version replaced NM_017619.3.
            
            Summary: Two types of spliceosomes catalyze splicing of pre-mRNAs.
            The major U2-type spliceosome is found in all eukaryotes and
            removes U2-type introns, which represent more than 99% of pre-mRNA
            introns. The minor U12-type spliceosome is found in some eukaryotes
            and removes U12-type introns, which are rare and have distinct
            splice consensus signals. The U12-type spliceosome consists of
            several small nuclear RNAs and associated proteins. This gene
            encodes a 65K protein that is a component of the U12-type
            spliceosome. This protein contains two RNA recognition motifs
            (RRMs), suggesting that it may contact one of the small nuclear
            RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008].
            
            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 :: BC010697.1, SRR18074969.952520.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000423855.7/ ENSP00000391432.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-257               AC095032.3         154415-154671
            258-273             CN386195.1         251-266
            274-2141            AY099329.1         2-1869
            2142-2144           BC010697.1         1861-1863
FEATURES             Location/Qualifiers
     source          1..2144
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.1"
     gene            1..2144
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /note="RNA binding region (RNP1, RRM) containing 3"
                     /db_xref="GeneID:55599"
                     /db_xref="HGNC:HGNC:18666"
                     /db_xref="MIM:618016"
     exon            1..564
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     CDS             373..1926
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /note="U11/U12 snRNP 65K; RNA-binding protein 40;
                     U11/U12-65K; RNA-binding motif protein 40; U11/U12 snRNP
                     65 kDa protein; U11/U12 small nuclear ribonucleoprotein 65
                     kDa protein"
                     /codon_start=1
                     /product="RNA-binding region-containing protein 3"
                     /protein_id="NP_060089.1"
                     /db_xref="CCDS:CCDS781.1"
                     /db_xref="GeneID:55599"
                     /db_xref="HGNC:HGNC:18666"
                     /db_xref="MIM:618016"
                     /translation="MAAPEQPLAISRGCTSSSSLSPPRGDRTLLVRHLPAELTAEEKE
                     DLLKYFGAQSVRVLSDKGRLKHTAFATFPNEKAAIKALTRLHQLKLLGHTLVVEFAKE
                     QDRVHSPCPTSGSEKKKRSDDPVEDDKEKKELGYLTVENGIAPNHGLTFPLNSCLKYM
                     YPPPSSTILANIVNALASVPKFYVQVLHLMNKMNLPTPFGPITARPPMYEDYMPLHAP
                     LPPTSPQPPEEPPLPDEDEELSSEESEYESTDDEDRQRMNKLMELANLQPKRPKTIKQ
                     RHVRKKRKIKDMLNTPLCPSHSSLHPVLLPSDVFDQPQPVGNKRIEFHISTDMPAAFK
                     KDLEKEQNCEEKNHDLPATEVDASNIGFGKIFPKPNLDITEEIKEDSDEMPSECISRR
                     ELEKGRISREEMETLSVFRSYEPGEPNCRIYVKNLAKHVQEKDLKYIFGRYVDFSSET
                     QRIMFDIRLMKEGRMKGQAFIGLPNEKAAAKALKEANGYVLFGKPMVVQFARSARPKQ
                     DPKEGKRKC"
     exon            565..612
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     exon            613..731
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     exon            732..815
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     exon            816..927
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     exon            928..996
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1139
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1265
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1417
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     exon            1418..1579
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     exon            1580..1674
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     exon            1675..1733
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     exon            1734..1866
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     exon            1867..1938
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     exon            1939..2144
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2119..2124
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /note="hexamer: AATAAA"
     polyA_site      2144
                     /gene="RNPC3"
                     /gene_synonym="CPHD7; IGHD5; RBM40; RNP; SNRNP65"
                     /note="major polyA site"
ORIGIN      
        1 gcagtcgtga gtcctcttgt ccttgagcgt caaccttctt tccctgaagt ggctggggtt
       61 cctgtttcct tctttgattg acaacttgtg ttaaccctcg cacatctctg ggccaatttt
      121 tgcttgtaag tctttccgga gacccctgga atttaaatca ttagcaccgc gcccttcccc
      181 gaagagtctt cgaagggttg ccgcttttcg gtggcgcagt tctcgcgaga aggtgacttt
      241 ctttctcggt atttcctggt ttccagaatc cttagcgcga ggcggaaaaa atatttctcc
      301 cagcttgtgt tgatgccgcg attttgactg agacttcttc ccacgatttc tgtttttgct
      361 tctccaagga aaatggcagc tcccgagcag ccgcttgcga tatcaagggg atgcacgagc
      421 tcctcctcgc tttccccgcc tcggggcgac cgaacccttc tggtcaggca cctgccggct
      481 gagcttactg ctgaggagaa agaggacttg ctgaagtact tcggggctca gtctgtgcgg
      541 gtcctgtcag ataaggggcg actgaaacat acagcttttg ccacattccc taatgaaaaa
      601 gcagctataa aggcattgac aagactccat caactgaaac ttttaggtca tactttagtc
      661 gttgaatttg caaaagagca agatcgagtt cactccccat gtcccacttc aggctctgaa
      721 aaaaaaaaaa ggtctgatga ccctgtcgaa gatgataaag aaaaaaaaga acttggttat
      781 ttaacagtag aaaatggaat tgcaccaaac catgggctga cttttccttt aaattcatgc
      841 ctcaagtata tgtacccacc accttccagc acaatcctag caaacattgt aaatgccttg
      901 gcaagcgtgc ctaagttcta tgtacaggtc cttcatctta tgaataaaat gaatttgccc
      961 acaccttttg gaccaattac tgcgcgacct cccatgtatg aagactatat gccattgcat
     1021 gcacctcttc cacccacatc tcctcagcca cctgaggaac ctcctttgcc agacgaggat
     1081 gaggaattat ctagtgaaga atcagaatat gaaagcactg atgatgagga ccgacagaga
     1141 atgaacaaat taatggaact agcaaatctt cagcccaaaa gacctaaaac aataaagcag
     1201 cgccatgtga gaaaaaagag aaaaataaag gatatgttga atacaccttt gtgtccttca
     1261 cacagcagtt tacatccagt gctgttacct tcagatgtat ttgaccaacc acaacctgta
     1321 ggtaacaaaa gaattgaatt ccatatatct accgacatgc cagctgcatt taagaaagat
     1381 ttagaaaagg aacaaaattg tgaggaaaaa aatcatgatt tacctgctac tgaagttgat
     1441 gcatccaata taggatttgg aaaaatcttc cccaaaccta atttggacat cacagaggag
     1501 attaaagaag actctgatga aatgccttca gaatgtattt ctagaaggga attggaaaag
     1561 ggcagaattt ctagagaaga aatggaaaca ctttcagttt tcagaagtta tgaaccgggt
     1621 gaaccaaact gtagaattta tgtaaagaat ttagctaaac atgttcaaga aaaggacctt
     1681 aaatatattt ttggaagata tgttgacttt tcatcagaaa cacagcggat catgtttgat
     1741 atacgtttga tgaaagaagg tcgtatgaaa ggacaagctt tcattggact tcctaatgaa
     1801 aaagcagcag caaaagcctt aaaggaagct aatggatatg tgctttttgg aaaacccatg
     1861 gtggttcagt ttgctcgatc tgctagacca aaacaagatc ctaaggaagg aaaaagaaag
     1921 tgttaaaaat taataaaggt ttttttgaat cccgtgtcct tcaagtgctt tctaactttg
     1981 agaggaagaa attgaccacc tggactatgg aactgtgcgt aacagctttg aaagtgtatt
     2041 taaaaattaa atctatatgc ctttaaatca gtgaattgga aacatattac atgtatttta
     2101 atgattttcc tcaaatataa taaattgttt cctttccaat aaaa
//
