LOCUS       NM_001282799            4292 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens R3H domain containing 1 (R3HDM1), transcript variant
            3, mRNA.
ACCESSION   NM_001282799 XM_005263630
VERSION     NM_001282799.2
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 4292)
  AUTHORS   Fukushi,D., Inaba,M., Katoh,K., Suzuki,Y., Enokido,Y., Nomura,N.,
            Tokita,Y., Hayashi,S., Mizuno,S., Yamada,K. and Wakamatsu,N.
  TITLE     R3HDM1 haploinsufficiency is associated with mild intellectual
            disability
  JOURNAL   Am J Med Genet A 185 (6), 1776-1786 (2021)
   PUBMED   33750005
  REMARK    GeneRIF: R3HDM1 haploinsufficiency is associated with mild
            intellectual disability.
REFERENCE   2  (bases 1 to 4292)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 4292)
  AUTHORS   Baltz,A.G., Munschauer,M., Schwanhausser,B., Vasile,A.,
            Murakawa,Y., Schueler,M., Youngs,N., Penfold-Brown,D., Drew,K.,
            Milek,M., Wyler,E., Bonneau,R., Selbach,M., Dieterich,C. and
            Landthaler,M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   4  (bases 1 to 4292)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   5  (bases 1 to 4292)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 4292)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   7  (bases 1 to 4292)
  AUTHORS   Ficarro,S.B., Salomon,A.R., Brill,L.M., Mason,D.E.,
            Stettler-Gill,M., Brock,A. and Peters,E.C.
  TITLE     Automated immobilized metal affinity chromatography/nano-liquid
            chromatography/electrospray ionization mass spectrometry platform
            for profiling protein phosphorylation sites
  JOURNAL   Rapid Commun Mass Spectrom 19 (1), 57-71 (2005)
   PUBMED   15570572
REFERENCE   8  (bases 1 to 4292)
  AUTHORS   Brill,L.M., Salomon,A.R., Ficarro,S.B., Mukherji,M.,
            Stettler-Gill,M. and Peters,E.C.
  TITLE     Robust phosphoproteomic profiling of tyrosine phosphorylation sites
            from human T cells using immobilized metal affinity chromatography
            and tandem mass spectrometry
  JOURNAL   Anal Chem 76 (10), 2763-2772 (2004)
   PUBMED   15144186
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL704414.1, D21852.1, AC016742.10 and BQ011745.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001282799.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks
            two alternate exons that result in the loss of an in-frame segment
            in the 5' coding region, and lacks an in-frame exon in the central
            coding region, compared to variant 1. The encoded isoform (c) is
            shorter than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: D21852.1, SRR14038196.1210154.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AL704414.1         31-47
            18-1074             D21852.1           1-1057
            1075-1075           AC016742.10        120510-120510
            1076-4289           D21852.1           1059-4272
            4290-4292           BQ011745.1         18-20               c
FEATURES             Location/Qualifiers
     source          1..4292
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.3"
     gene            1..4292
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /note="R3H domain containing 1"
                     /db_xref="GeneID:23518"
                     /db_xref="HGNC:HGNC:9757"
                     /db_xref="MIM:619474"
     exon            1..150
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            151..359
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            360..570
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     CDS             400..3315
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /note="isoform c is encoded by transcript variant 3; R3H
                     domain (binds single-stranded nucleic acids) containing;
                     R3H domain-containing protein 1"
                     /codon_start=1
                     /product="R3H domain-containing protein 1 isoform c"
                     /protein_id="NP_001269728.1"
                     /db_xref="CCDS:CCDS63026.1"
                     /db_xref="GeneID:23518"
                     /db_xref="HGNC:HGNC:9757"
                     /db_xref="MIM:619474"
                     /translation="MRMSDTVTVKDETATMKDLEAEVKDTTRVENLIKSENYGKILVE
                     KNEHCIENNIDLQEKIQIQLTQSFEKEEKPSKDEAEKEKASDKLPRKMLSRDSSQEYT
                     DSTGIDLHEFLVNTLKNNPRDRMMLLKLEQEILDFIGNNESPRKKFPPMTSYHRMLLH
                     RVAAYFGLDHNVDQSGKSVIVNKTSNTRIPDQKFNEHIKDDKGEDFQKRYILKRDNSS
                     FDKDDNQMRIRLKDDRRSKSIEEREEEYQRARDRIFSQDSLCSQENYIIDKRLQDEDA
                     SSTQQRRQIFRVNKDASGRSTNSHQSSTENELKYSEPRPWSSTDSDSSLRNLKPAVTK
                     ASSFSGISVLTRGDSSGSSKSIGRLSKTGQPFINPDGSPVVYNPPMTQQPVRSQVPGP
                     PQPPLPAPPQQPAANHIFSQQDNLGSQFSHMSLARQPSADGSDPHAAMFQSTVVLQSP
                     QQSGYIMTAAPPPHPPPPPPPPPPPPPLPPGQPVPTAGYPASGHPVSQPVLQQQGYIQ
                     QPSPQMPACYCAPGHYHSSQPQYRPVPSVHYNSHLNQPLPQPAQQTGYQVIPNQQQNY
                     QGIVGVQQPQSQSLVSGQPNSIGNQIQGVVIPYTSVPTYQVSLPQGSQGIPHQTYQQP
                     VMFPNQSNQGSMPTTGMPVYYSVIPPGQQNNLSSSVGYLQHPGSEQVQFPRTTSPCSS
                     QQLQGHQCTAGPPPPPGGGMVMMQLSVPNNPQSCAHSPPQWKQNKYYCDHQRGQKCVE
                     FSSVDNIVQHSPQLSSPIISPAQSPAPAQLSTLKTVRPSGPPLSIMPQFSRPFVPGQG
                     DSRYPLLGQPLQYNPPAVLHGHIPNQQGQPGSRHGNRGRRQAKKAASTDLGAGETVVG
                     KVLEITELPDGITRMEAEKLFGELFKIGAKIRWLRDPQSQPRRHPLCCGSGDNTANPE
                     RSKPSDLASTYTVLATFPSISAAQNALKKQINSVNKFKLRTSKKHYDFHILERASSQ"
     exon            571..685
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            686..764
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            765..824
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            825..965
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1074
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1075..1170
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1208
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1209..1259
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..1486
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1487..1635
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..1938
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1939..2062
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2063..2217
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2218..2369
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2370..2473
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2474..2646
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2647..2791
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2792..2874
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2875..2959
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2960..4292
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4273..4278
                     /regulatory_class="polyA_signal_sequence"
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /note="hexamer: AATAAA"
     polyA_site      4292
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /note="major polyA site"
ORIGIN      
        1 attctgccag ccgcggctgc cgctggagcc ggtgtccggg ctggtgatgg ggttaattcc
       61 ctttcgtaag actcttactt gcacccaccc agccccgccg tcgccccgcc gcgccgcgct
      121 ccaaccgcct cctcctcctc agtaacgcgg gccacggaaa ggtatgatat atttgatcca
      181 agacagtcca ttccagtccg ggaatctaca gtggtgacaa ggacatggga ctcctcctgc
      241 cagattacag atggttcact acagttgaca tcctggctga caactgtgaa aaagaacctt
      301 ggattatttt attttatttt tgtgggacac cacaatccca aatccaaagg acgcatcagg
      361 cttcaagctc cctgtagaat tcgaaaataa ccttttctaa tgaggatgtc tgatactgtt
      421 actgtaaaag atgaaactgc aacaatgaag gatttggagg cagaagtgaa agatacaacc
      481 agagttgaaa atcttatcaa atcagaaaac tatgggaaga ttttggtaga gaagaatgaa
      541 cattgtattg agaacaatat agatttgcag gagaaaattc agatccagtt aacacaatca
      601 tttgagaaag aagagaagcc ctcaaaagat gaagcagaaa aagaaaaggc cagtgataag
      661 ttgcccagaa aaatgttatc aagagattcc agtcaagaat acactgattc aactggcata
      721 gatctacatg aatttttagt aaatacatta aaaaacaatc ccagggacag aatgatgctg
      781 ctgaaattgg aacaagaaat tttagatttc attggtaata atgagtctcc acgtaaaaaa
      841 ttccccccaa tgacatctta ccataggatg ctattacaca gagtagccgc ttactttgga
      901 ttagaccaca atgttgatca gagtgggaag tctgtcatag taaacaaaac tagcaataca
      961 agaatacctg atcagaaatt taatgaacat attaaggatg ataaaggtga agactttcag
     1021 aaacgttata tcctcaagag agataactct agctttgaca aagatgataa ccagatgaga
     1081 atacgtttga aagatgacag aagaagcaaa tctatagaag aaagagaaga agagtaccag
     1141 agagccagag accgaatatt ttcccaagat tccctgtgtt cccaagagaa ttacattatt
     1201 gacaaaagac tccaagacga ggatgccagt agtacccagc agaggcgcca gatatttaga
     1261 gttaataaag atgcttcagg gagatctaca aatagccatc aaagcagcac tgagaatgag
     1321 ttgaagtact cggaaccacg accctggagc agcacagatt cagacagctc tcttcgaaac
     1381 ctgaaacctg ctgtaaccaa agccagcagc ttcagtggaa tctcagtcct gacaagaggt
     1441 gatagttctg gaagcagcaa aagcataggc aggctttcaa aaacaggtca gcccttcata
     1501 aacccagatg ggagtccagt tgtgtataat cctcctatga ctcaacaacc agttagatcc
     1561 caagtgcctg gacctccaca gccacctctg ccagccccac ctcaacaacc agcagctaat
     1621 cacattttct cacagcagga taacctaggg tctcagttta gccacatgag tcttgctcgc
     1681 cagccatctg ctgatggttc tgaccctcat gccgccatgt tccagtccac tgtggttctt
     1741 cagtctccac agcagtctgg ttatatcatg acagcagccc ctccaccaca tcctcctcca
     1801 ccgccaccac caccacctcc tcctcctccc ctaccacctg ggcagccagt ccctactgct
     1861 ggatatcctg cctctggtca tcctgtcagc cagcctgtgc tccagcagca gggatatatt
     1921 cagcagccat caccacagat gccagcctgt tattgcgctc caggccacta tcactccagc
     1981 caacctcagt atcgcccagt cccttctgtt cattacaatt cacatctaaa ccaaccactg
     2041 ccacaacctg cgcagcagac aggttatcaa gttataccca accagcagca aaactaccaa
     2101 ggaatagttg gagttcagca accccagagt cagagcctag tcagtggcca acccaacagc
     2161 attggaaatc agattcaagg agtggtcatc ccctatactt cagtgccaac atatcaggtt
     2221 tcactgcctc aaggttctca aggaattccc catcagactt atcaacagcc tgttatgttc
     2281 cctaatcagt ctaatcaagg atctatgccc acaacaggaa tgcctgttta ctatagtgtc
     2341 attccacctg gtcaacaaaa caatttaagc tcttcagtag gttacctgca acatccagga
     2401 tcagaacaag tacaatttcc tcgaaccact tcaccatgca gttcccagca gcttcaaggc
     2461 caccaatgta cagctggacc accaccgcca cctggtgggg ggatggtgat gatgcagctc
     2521 agtgtaccaa acaatccaca atcttgtgcc cactcacccc cgcagtggaa acaaaacaaa
     2581 tattactgtg atcaccagag aggacagaag tgtgtagaat ttagcagtgt agacaatatt
     2641 gtccagcaca gccctcaact cagtagcccc attatttcac cagctcagtc gccagcacca
     2701 gctcagctgt ccaccctgaa aactgtacgt ccctctggac caccactttc catcatgccc
     2761 caattttcta gaccttttgt ccccgggcaa ggagattcca ggtatccatt acttggccag
     2821 ccactgcagt acaatcctcc tgctgttctg cacggacaca ttccaaacca acagggtcag
     2881 cctggcagca ggcatggaaa ccgaggaagg agacaagcta aaaaagctgc atccacagac
     2941 cttggagcag gagaaacagt tgttgggaag gtcttggaaa ttactgaact accagatgga
     3001 ataactcgca tggaagctga aaagcttttt ggggaactct ttaaaattgg cgccaagatc
     3061 cggtggctcc gggaccccca gtcccaacca cgtcgtcacc ccctctgctg tggcagtggg
     3121 gacaacactg ccaaccctga acgctctaaa cccagtgact tggcctccac ctacaccgtc
     3181 ttagccacat tcccctccat ttcagctgca cagaatgcac tgaagaaaca aattaactca
     3241 gttaacaagt ttaagctgag aacaagcaag aagcactatg actttcacat tttggaaagg
     3301 gcaagttctc agtaacagcc acctttggac ccttcgcctt tatggttccc ctgccctctc
     3361 ccatctttga ttggcttggt atttggagct tctgttaaca ttatagagac tcctaggatg
     3421 tgtgttcatg gcattatagc ttttgaagaa aggccagtga tccagcaaag ggggaaaaat
     3481 atgcatttca ccccacatga ctaggaatcc acatcagaat gatacagagt tagcaggttt
     3541 ttctaaggaa atgccattca aatgcctcct aacttttata gttattttgt tttatatttc
     3601 taaattcttg tatcagatcc aaagctctat tgtacagcaa attattcttc aaaatgatta
     3661 taaccagttg caccctgtat ttctttttgc agccagcaca atgtgaccca acttaaaatt
     3721 tgggggaaaa agaatgcagg agtgaaataa ccaagtcaaa accatgtact atctccttgg
     3781 gggttaggga tgctaagaag agcccacaaa tagaggatta ctcttcccct gaatctctaa
     3841 actcagaaac aattaccaaa aaatacataa ctcttccttg tagggccctt tccttattca
     3901 tttaggtagt gtgaacatta agtataaaat aaattatgtt cttaatgcct cttaaaccac
     3961 ttacattcaa aggggaacag aaatcattct aagcaggaaa atacttccac tttttttttt
     4021 tcaagtatct ctctaataac taaatgccac ttatttgcat tctccttgtg gattttttgt
     4081 cacctaagga aatgcatttg atgagtgctg gaaacttctt aagtgcttta cagtttgttt
     4141 tcattgtttg cagcggatca ctggacatca aagattcatt gcacttatga acaaggaacc
     4201 ttcttttcaa tttctgtgta atttgcaagg ctgtacaatg tgtgctgatg caagcctttt
     4261 tcagttcaag agaataaatg tttacaaata ta
//
