LOCUS       NM_001136108            1573 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens R3H domain and coiled-coil containing 1 (R3HCC1),
            transcript variant 1, mRNA.
ACCESSION   NM_001136108 XM_001716421 XM_114618 XM_939319
VERSION     NM_001136108.3
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 1573)
  AUTHORS   Kanesada,K., Tsunedomi,R., Hazama,S., Ogihara,H., Hamamoto,Y.,
            Shindo,Y., Matsui,H., Tokumitsu,Y., Yoshida,S., Iida,M., Suzuki,N.,
            Takeda,S., Ioka,T. and Nagano,H.
  TITLE     Association between a single nucleotide polymorphism in the R3HCC1
            gene and irinotecan toxicity
  JOURNAL   Cancer Med 12 (4), 4294-4305 (2023)
   PUBMED   36308049
  REMARK    GeneRIF: Association between a single nucleotide polymorphism in
            the R3HCC1 gene and irinotecan toxicity.
REFERENCE   2  (bases 1 to 1573)
  AUTHORS   Lee,S., Liu,B., Lee,S., Huang,S.X., Shen,B. and Qian,S.B.
  TITLE     Global mapping of translation initiation sites in mammalian cells
            at single-nucleotide resolution
  JOURNAL   Proc Natl Acad Sci U S A 109 (37), E2424-E2432 (2012)
   PUBMED   22927429
  REMARK    GeneRIF: Ribosome profiling indicates that this gene can use a
            non-AUG (CUG) start codon in both human HEK293 and mouse embryonic
            fibroblast cells.
REFERENCE   3  (bases 1 to 1573)
  AUTHORS   Diaz,M., Lopez-Bermejo,A., Petry,C.J., de Zegher,F. and Ibanez,L.
  TITLE     Efficacy of metformin therapy in adolescent girls with androgen
            excess: relation to sex hormone-binding globulin and androgen
            receptor polymorphisms
  JOURNAL   Fertil Steril 94 (7), 2800-3 (2010)
   PUBMED   20691435
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 1573)
  AUTHORS   Kashima,I., Jonas,S., Jayachandran,U., Buchwald,G., Conti,E.,
            Lupas,A.N. and Izaurralde,E.
  TITLE     SMG6 interacts with the exon junction complex via two conserved
            EJC-binding motifs (EBMs) required for nonsense-mediated mRNA decay
  JOURNAL   Genes Dev 24 (21), 2440-2450 (2010)
   PUBMED   20930030
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC143829.1 and BC032421.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001136108.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.870080.1,
                                           SRR1660803.152523.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000265806.12/ ENSP00000265806.8
            non-AUG initiation codon :: PMID: 22927429
            RefSeq Select criteria   :: based on conservation, expression,
                                        longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1415              BC143829.1         201-1615
            1416-1573           BC032421.1         1399-1556
FEATURES             Location/Qualifiers
     source          1..1573
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     gene            1..1573
                     /gene="R3HCC1"
                     /note="R3H domain and coiled-coil containing 1"
                     /db_xref="GeneID:203069"
                     /db_xref="HGNC:HGNC:27329"
     exon            1..50
                     /gene="R3HCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            51..178
                     /gene="R3HCC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1391
                     /gene="R3HCC1"
                     /note="isoform a is encoded by transcript variant 1;
                     non-AUG (CUG) translation initiation codon; R3H and
                     coiled-coil domain-containing protein 1"
                     /codon_start=1
                     /product="R3H and coiled-coil domain-containing protein 1
                     isoform a"
                     /protein_id="NP_001129580.2"
                     /db_xref="CCDS:CCDS47826.2"
                     /db_xref="GeneID:203069"
                     /db_xref="HGNC:HGNC:27329"
                     /translation="MALLCLDGVFLSSAENDFVHRIQEELDRFLLQKQLSKVLLFPPL
                     SSRLRYLIHRTAENFDLLSSFSVGEGWKRRTVICHQDIRVPSSDGLSGPCRAPASCPS
                     RYHGPRPISNQGAAAVPRGARAGRWYRGRKPDQPLYVPRVLRRQEEWGLTSTSVLKRE
                     APAGRDPEEPGDVGAGDPNSDQGLPVLMTQGTEDLKGPGQRCENEPLLDPVGPEPLGP
                     ESQSGKGDMVEMATRFGSTLQLDLEKGKESLLEKRLVAEEEEDEEEVEEDGPSSCSED
                     DYSELLQEITDNLTKKEIQIEKIHLDTSSFVEELPGEKDLAHVVEIYDFEPALKTEDL
                     LATFSEFQEKGFRIQWVDDTHALGIFPCLASAAEALTREFSVLKIRPLTQGTKQSKLK
                     ALQRPKLLRLVKERPQTNATVARRLVARALGLQHKKKERPAVRGPLPP"
     exon            179..316
                     /gene="R3HCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            317..920
                     /gene="R3HCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1093
                     /gene="R3HCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1164
                     /gene="R3HCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1165..1260
                     /gene="R3HCC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1573
                     /gene="R3HCC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1546..1551
                     /regulatory_class="polyA_signal_sequence"
                     /gene="R3HCC1"
                     /note="hexamer: AATAAA"
     polyA_site      1573
                     /gene="R3HCC1"
                     /note="major polyA site"
ORIGIN      
        1 gctggcccct ggggacgccg agggcggctg cgacgcgccg agaggccgcg gctctcccac
       61 ctgtcaccct ggcccttctc tgcttggatg gtgtcttcct ctcctcagcc gagaatgact
      121 tcgtccaccg gatccaggag gaactggacc gctttctgct gcagaagcag ctgtcaaagg
      181 ttcttctttt ccccccactc tccagtcgcc tccggtacct gatccataga acagcagaga
      241 attttgatct cttgagcagc ttctccgttg gggagggctg gaagaggagg acggtcatct
      301 gtcaccagga catcagggta cccagttcgg atggcctctc tggcccctgc cgcgctcctg
      361 cctcctgccc cagcaggtac cacggtcctc ggcccatctc caaccaagga gcagctgcgg
      421 ttccccgagg tgcccgggct ggccggtggt atcgtggacg caagcctgac cagcctttgt
      481 atgtgccccg ggtgctgcgc aggcaggaag aatgggggct gacctctacc tcggtgctca
      541 agagagaggc cccagctggc agggacccag aagagcctgg agatgttggt gctggagacc
      601 ccaactctga tcagggactc cctgtgctga tgactcaggg aacagaggac ctaaagggcc
      661 caggacaaag gtgtgagaat gagccactgc tggaccctgt tggccctgag cctctggggc
      721 ctgagagtca gtcagggaag ggagacatgg tggagatggc cacacggttt gggtccaccc
      781 tgcagctaga cctggaaaag gggaaggaga gtctgttgga gaagaggctg gtggcagagg
      841 aggaagagga cgaagaggag gtggaagagg atggccccag cagctgctcg gaggacgatt
      901 acagtgagct gctgcaggag atcacagaca acctgacgaa gaaggagatt cagatagaga
      961 agatccattt ggacacatcc tccttcgtgg aggagctgcc tggagagaag gaccttgccc
     1021 acgtggtaga gatctatgac tttgaaccag cgctcaagac ggaggacctg ctggcaacgt
     1081 tttctgagtt ccaagagaag gggttcagga ttcagtgggt ggatgatact cacgcactcg
     1141 gcatctttcc ctgcctggcc tcagctgcgg aagccctgac ccgggagttc tcggtgctca
     1201 agatccggcc cctcacacag ggaaccaagc agtcaaagct caaagccttg cagaggccaa
     1261 aactcctgcg tctggtgaag gagaggccac agacaaatgc gactgtggcc cggcggctgg
     1321 tggcccgggc cctgggactc caacacaaaa agaaagagcg gcctgctgtc cggggtccgc
     1381 tgccgccctg aggcctggag acccaactgg cctggatctg cgtcccgacg tagctggcgc
     1441 ccccaacacc ataagccttc acagacgcca gagcagcccc gcaccaccct cgagcttcac
     1501 catggggtgt ggtgggcttt agtttagtcc cagaaatgga gaaaaaataa aaactcacgt
     1561 tgttctaatg tga
//
