LOCUS       NM_001378107            4781 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens R3H domain containing 1 (R3HDM1), transcript variant
            7, mRNA.
ACCESSION   NM_001378107 XM_011510870
VERSION     NM_001378107.1
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 4781)
  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 4781)
  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 4781)
  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 4781)
  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 4781)
  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 4781)
  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 4781)
  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 4781)
  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
            AC016742.10 and AC011893.7.
            
            On Jan 28, 2020 this sequence version replaced XM_011510870.1.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1660807.27650.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2145743, SAMEA2154361 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000683871.1/ ENSP00000506980.1
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-150               AC016742.10        15906-16055
            151-359             AC016742.10        86922-87130
            360-570             AC016742.10        89228-89438
            571-612             AC016742.10        100574-100615
            613-702             AC016742.10        101090-101179
            703-817             AC016742.10        105916-106030
            818-896             AC016742.10        107076-107154
            897-956             AC016742.10        116140-116199
            957-1097            AC016742.10        116283-116423
            1098-1206           AC016742.10        120312-120420
            1207-1302           AC016742.10        120510-120605
            1303-1340           AC016742.10        123040-123077
            1341-1391           AC016742.10        123161-123211
            1392-1618           AC016742.10        123318-123544
            1619-1873           AC016742.10        125958-126212
            1874-2022           AC016742.10        129801-129949
            2023-2124           AC016742.10        134324-134425
            2125-2427           AC016742.10        136152-136454
            2428-2551           AC016742.10        145692-145815
            2552-2706           AC016742.10        159754-159908
            2707-2858           AC016742.10        164595-164746
            2859-2962           AC011893.7         13452-13555
            2963-3135           AC011893.7         14078-14250
            3136-3280           AC011893.7         19569-19713
            3281-3363           AC011893.7         25943-26025
            3364-3448           AC011893.7         26488-26572
            3449-4781           AC011893.7         27956-29288
FEATURES             Location/Qualifiers
     source          1..4781
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.3"
     gene            1..4781
                     /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..3804
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /note="isoform e is encoded by transcript variant 7; R3H
                     domain (binds single-stranded nucleic acids) containing;
                     R3H domain-containing protein 1"
                     /codon_start=1
                     /product="R3H domain-containing protein 1 isoform e"
                     /protein_id="NP_001365036.1"
                     /db_xref="CCDS:CCDS92870.1"
                     /db_xref="GeneID:23518"
                     /db_xref="HGNC:HGNC:9757"
                     /db_xref="MIM:619474"
                     /translation="MRMSDTVTVKDETATMKDLEAEVKDTTRVENLIKSENYGKILVE
                     KNEHCIENNIDLQRPLQSFGQTGKRSKSSSKLKLVRSLAVCEESPPPPAPEISQENQE
                     KIQIQLTQSFEKEEKPSKDEAEKEKASDKLPRKMLSRDSSQEYTDSTGIDLHEFLVNT
                     LKNNPRDRMMLLKLEQEILDFIGNNESPRKKFPPMTSYHRMLLHRVAAYFGLDHNVDQ
                     SGKSVIVNKTSNTRIPDQKFNEHIKDDKGEDFQKRYILKRDNSSFDKDDNQMRIRLKD
                     DRRSKSIEEREEEYQRARDRIFSQDSLCSQENYIIDKRLQDEDASSTQQRRQIFRVNK
                     DASGRSTNSHQSSTENELKYSEPRPWSSTDSDSSLRNLKPAVTKASSFSGISVLTRGD
                     SSGSSKSIGRLSKTGSESSGSVGSSTGSLSHIQQPLPGTALSQSSHGAPVVYPTVSTH
                     SSLSFDGGLNGQVASPSTSFFLLPLEAAGIPPGSILINPQTGQPFINPDGSPVVYNPP
                     MTQQPVRSQVPGPPQPPLPAPPQQPAANHIFSQPVHPLQSSSQPVQYSTAPYPSPFLP
                     VSPTQQYSVQDNLGSQFSHMSLARQPSADGSDPHAAMFQSTVVLQSPQQSGYIMTAAP
                     PPHPPPPPPPPPPPPPLPPGQPVPTAGYPASGHPVSQPVLQQQGYIQQPSPQMPACYC
                     APGHYHSSQPQYRPVPSVHYNSHLNQPLPQPAQQTGYQVIPNQQQNYQGIVGVQQPQS
                     QSLVSGQPNSIGNQIQGVVIPYTSVPTYQVSLPQGSQGIPHQTYQQPVMFPNQSNQGS
                     MPTTGMPVYYSVIPPGQQNNLSSSVGYLQHPGSEQVQFPRTTSPCSSQQLQGHQCTAG
                     PPPPPGGGMVMMQLSVPNNPQSCAHSPPQWKQNKYYCDHQRGQKCVEFSSVDNIVQHS
                     PQLSSPIISPAQSPAPAQLSTLKTVRPSGPPLSIMPQFSRPFVPGQGDSRYPLLGQPL
                     QYNPPAVLHGHIPNQQGQPGSRHGNRGRRQAKKAASTDLGAGETVVGKVLEITELPDG
                     ITRMEAEKLFGELFKIGAKIRWLRDPQSQPRRHPLCCGSGDNTANPERSKPSDLASTY
                     TVLATFPSISAAQNALKKQINSVNKFKLRTSKKHYDFHILERASSQ"
     exon            571..612
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            613..702
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            703..817
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            818..896
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            897..956
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1097
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1206
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1207..1302
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1303..1340
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1341..1391
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..1618
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1619..1873
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1874..2022
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2023..2124
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2125..2427
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2428..2551
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2552..2706
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2707..2858
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2859..2962
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2963..3135
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            3136..3280
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            3281..3363
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            3364..3448
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            3449..4781
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4762..4767
                     /regulatory_class="polyA_signal_sequence"
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /note="hexamer: AATAAA"
     polyA_site      4781
                     /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 cggccattgc agtcatttgg acagacagga
      601 aaaaggtcta agtcaagctc aaagttaaag ctagttcgga gccttgcagt gtgtgaagaa
      661 tctccaccac cccctgcacc agagatatca caggagaacc aggagaaaat tcagatccag
      721 ttaacacaat catttgagaa agaagagaag ccctcaaaag atgaagcaga aaaagaaaag
      781 gccagtgata agttgcccag aaaaatgtta tcaagagatt ccagtcaaga atacactgat
      841 tcaactggca tagatctaca tgaattttta gtaaatacat taaaaaacaa tcccagggac
      901 agaatgatgc tgctgaaatt ggaacaagaa attttagatt tcattggtaa taatgagtct
      961 ccacgtaaaa aattcccccc aatgacatct taccatagga tgctattaca cagagtagcc
     1021 gcttactttg gattagacca caatgttgat cagagtggga agtctgtcat agtaaacaaa
     1081 actagcaata caagaatacc tgatcagaaa tttaatgaac atattaagga tgataaaggt
     1141 gaagactttc agaaacgtta tatcctcaag agagataact ctagctttga caaagatgat
     1201 aaccagatga gaatacgttt gaaagatgac agaagaagca aatctataga agaaagagaa
     1261 gaagagtacc agagagccag agaccgaata ttttcccaag attccctgtg ttcccaagag
     1321 aattacatta ttgacaaaag actccaagac gaggatgcca gtagtaccca gcagaggcgc
     1381 cagatattta gagttaataa agatgcttca gggagatcta caaatagcca tcaaagcagc
     1441 actgagaatg agttgaagta ctcggaacca cgaccctgga gcagcacaga ttcagacagc
     1501 tctcttcgaa acctgaaacc tgctgtaacc aaagccagca gcttcagtgg aatctcagtc
     1561 ctgacaagag gtgatagttc tggaagcagc aaaagcatag gcaggctttc aaaaacaggt
     1621 tctgagtctt ctggtagtgt agggtcatct acaggctctc tttctcacat ccagcagcct
     1681 cttccaggta cagctctcag ccagtcttct catggcgcac ctgtcgtcta tccaactgtc
     1741 agcactcata gttctctttc ctttgatggt ggcctaaatg ggcaagtcgc atctcctagc
     1801 actagcttct ttttgcttcc cttggaagcg gcaggcatac cacctggcag tattctgatc
     1861 aacccacaaa caggtcagcc cttcataaac ccagatggga gtccagttgt gtataatcct
     1921 cctatgactc aacaaccagt tagatcccaa gtgcctggac ctccacagcc acctctgcca
     1981 gccccacctc aacaaccagc agctaatcac attttctcac agcctgttca tcctctgcag
     2041 tcctcttcac agcctgttca gtactctaca gccccttacc catccccgtt cctgccagtc
     2101 tcacccaccc agcaatactc tgtgcaggat aacctagggt ctcagtttag ccacatgagt
     2161 cttgctcgcc agccatctgc tgatggttct gaccctcatg ccgccatgtt ccagtccact
     2221 gtggttcttc agtctccaca gcagtctggt tatatcatga cagcagcccc tccaccacat
     2281 cctcctccac cgccaccacc accacctcct cctcctcccc taccacctgg gcagccagtc
     2341 cctactgctg gatatcctgc ctctggtcat cctgtcagcc agcctgtgct ccagcagcag
     2401 ggatatattc agcagccatc accacagatg ccagcctgtt attgcgctcc aggccactat
     2461 cactccagcc aacctcagta tcgcccagtc ccttctgttc attacaattc acatctaaac
     2521 caaccactgc cacaacctgc gcagcagaca ggttatcaag ttatacccaa ccagcagcaa
     2581 aactaccaag gaatagttgg agttcagcaa ccccagagtc agagcctagt cagtggccaa
     2641 cccaacagca ttggaaatca gattcaagga gtggtcatcc cctatacttc agtgccaaca
     2701 tatcaggttt cactgcctca aggttctcaa ggaattcccc atcagactta tcaacagcct
     2761 gttatgttcc ctaatcagtc taatcaagga tctatgccca caacaggaat gcctgtttac
     2821 tatagtgtca ttccacctgg tcaacaaaac aatttaagct cttcagtagg ttacctgcaa
     2881 catccaggat cagaacaagt acaatttcct cgaaccactt caccatgcag ttcccagcag
     2941 cttcaaggcc accaatgtac agctggacca ccaccgccac ctggtggggg gatggtgatg
     3001 atgcagctca gtgtaccaaa caatccacaa tcttgtgccc actcaccccc gcagtggaaa
     3061 caaaacaaat attactgtga tcaccagaga ggacagaagt gtgtagaatt tagcagtgta
     3121 gacaatattg tccagcacag ccctcaactc agtagcccca ttatttcacc agctcagtcg
     3181 ccagcaccag ctcagctgtc caccctgaaa actgtacgtc cctctggacc accactttcc
     3241 atcatgcccc aattttctag accttttgtc cccgggcaag gagattccag gtatccatta
     3301 cttggccagc cactgcagta caatcctcct gctgttctgc acggacacat tccaaaccaa
     3361 cagggtcagc ctggcagcag gcatggaaac cgaggaagga gacaagctaa aaaagctgca
     3421 tccacagacc ttggagcagg agaaacagtt gttgggaagg tcttggaaat tactgaacta
     3481 ccagatggaa taactcgcat ggaagctgaa aagctttttg gggaactctt taaaattggc
     3541 gccaagatcc ggtggctccg ggacccccag tcccaaccac gtcgtcaccc cctctgctgt
     3601 ggcagtgggg acaacactgc caaccctgaa cgctctaaac ccagtgactt ggcctccacc
     3661 tacaccgtct tagccacatt cccctccatt tcagctgcac agaatgcact gaagaaacaa
     3721 attaactcag ttaacaagtt taagctgaga acaagcaaga agcactatga ctttcacatt
     3781 ttggaaaggg caagttctca gtaacagcca cctttggacc cttcgccttt atggttcccc
     3841 tgccctctcc catctttgat tggcttggta tttggagctt ctgttaacat tatagagact
     3901 cctaggatgt gtgttcatgg cattatagct tttgaagaaa ggccagtgat ccagcaaagg
     3961 gggaaaaata tgcatttcac cccacatgac taggaatcca catcagaatg atacagagtt
     4021 agcaggtttt tctaaggaaa tgccattcaa atgcctccta acttttatag ttattttgtt
     4081 ttatatttct aaattcttgt atcagatcca aagctctatt gtacagcaaa ttattcttca
     4141 aaatgattat aaccagttgc accctgtatt tctttttgca gccagcacaa tgtgacccaa
     4201 cttaaaattt gggggaaaaa gaatgcagga gtgaaataac caagtcaaaa ccatgtacta
     4261 tctccttggg ggttagggat gctaagaaga gcccacaaat agaggattac tcttcccctg
     4321 aatctctaaa ctcagaaaca attaccaaaa aatacataac tcttccttgt agggcccttt
     4381 ccttattcat ttaggtagtg tgaacattaa gtataaaata aattatgttc ttaatgcctc
     4441 ttaaaccact tacattcaaa ggggaacaga aatcattcta agcaggaaaa tacttccact
     4501 tttttttttt caagtatctc tctaataact aaatgccact tatttgcatt ctccttgtgg
     4561 attttttgtc acctaaggaa atgcatttga tgagtgctgg aaacttctta agtgctttac
     4621 agtttgtttt cattgtttgc agcggatcac tggacatcaa agattcattg cacttatgaa
     4681 caaggaacct tcttttcaat ttctgtgtaa tttgcaaggc tgtacaatgt gtgctgatgc
     4741 aagccttttt cagttcaaga gaataaatgt ttacaaatat a
//
