LOCUS       NM_001282800            4341 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens R3H domain containing 1 (R3HDM1), transcript variant
            4, mRNA.
ACCESSION   NM_001282800 XM_005263625
VERSION     NM_001282800.2
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 4341)
  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 4341)
  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 4341)
  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 4341)
  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 4341)
  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 4341)
  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 4341)
  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 4341)
  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
            AK127793.1, AC016742.10 and BQ011745.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001282800.1.
            
            Transcript Variant: This variant (4) lacks three alternate exons in
            the 5' coding region, and initiates translation at an alternate
            start codon, compared to variant 1. The encoded isoform (d) has a
            distinct N-terminus and is shorter than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK127793.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465404 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1958              AK127793.1         1-1958
            1959-1959           AC016742.10        136426-136426
            1960-4340           AK127793.1         1960-4340
            4341-4341           BQ011745.1         18-18               c
FEATURES             Location/Qualifiers
     source          1..4341
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q21.3"
     gene            1..4341
                     /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..155
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            156..364
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     CDS             230..3364
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /note="isoform d is encoded by transcript variant 4; R3H
                     domain (binds single-stranded nucleic acids) containing;
                     R3H domain-containing protein 1"
                     /codon_start=1
                     /product="R3H domain-containing protein 1 isoform d"
                     /protein_id="NP_001269729.1"
                     /db_xref="CCDS:CCDS63024.1"
                     /db_xref="GeneID:23518"
                     /db_xref="HGNC:HGNC:9757"
                     /db_xref="MIM:619474"
                     /translation="MGLLLPDYRWFTTVDILADNCEKEPWIILFYFCGTPQSQIQRTH
                     QEKIQIQLTQSFEKEEKPSKDEAEKEKASDKLPRKMLSRDSSQEYTDSTGIDLHEFLV
                     NTLKNNPRDRMMLLKLEQEILDFIGNNESPRKKFPPMTSYHRMLLHRVAAYFGLDHNV
                     DQSGKSVIVNKTSNTRIPDQKFNEHIKDDKGEDFQKRYILKRDNSSFDKDDNQMRIRL
                     KDDRRSKSIEEREEEYQRARDRIFSQDSLCSQENYIIDKRLQDEDASSTQQRRQIFRV
                     NKDASGRSTNSHQSSTENELKYSEPRPWSSTDSDSSLRNLKPAVTKASSFSGISVLTR
                     GDSSGSSKSIGRLSKTGSESSGSVGSSTGSLSHIQQPLPGTALSQSSHGAPVVYPTVS
                     THSSLSFDGGLNGQVASPSTSFFLLPLEAAGIPPGSILINPQTGQPFINPDGSPVVYN
                     PPMTQQPVRSQVPGPPQPPLPAPPQQPAANHIFSQQDNLGSQFSHMSLARQPSADGSD
                     PHAAMFQSTVVLQSPQQSGYIMTAAPPPHPPPPPPPPPPPPPLPPGQPVPTAGYPASG
                     HPVSQPVLQQQGYIQQPSPQMPACYCAPGHYHSSQPQYRPVPSVHYNSHLNQPLPQPA
                     QQTGYQVIPNQQQNYQGIVGVQQPQSQSLVSGQPNSIGNQIQGVVIPYTSVPTYQVSL
                     PQGSQGIPHQTYQQPVMFPNQSNQGSMPTTGMPVYYSVIPPGQQNNLSSSVGYLQHPG
                     SEQVQFPRTTSPCSSQQLQGHQCTAGPPPPPGGGMVMMQLSVPNNPQSCAHSPPQWKQ
                     NKYYCDHQRGQKCVEFSSVDNIVQHSPQLSSPIISPAQSPAPAQLSTLKTVRPSGPPL
                     SIMPQFSRPFVPGQGDSRYPLLGQPLQYNPPAVLHGHIPNQQGQPGSRHGNRGRRQAK
                     KAASTDLGAGETVVGKVLEITELPDGITRMEAEKLFGELFKIGAKIRWLRDPQSQPRR
                     HPLCCGSGDNTANPERSKPSDLASTYTVLATFPSISAAQNALKKQINSVNKFKLRTSK
                     KHYDFHILERASSQ"
     exon            365..479
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            480..558
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            559..618
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            619..759
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            760..868
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            869..964
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            965..1002
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1053
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..1280
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1281..1535
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1536..1684
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1685..1987
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            1988..2111
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2112..2266
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2267..2418
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2419..2522
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2523..2695
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2696..2840
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2841..2923
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            2924..3008
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     exon            3009..4341
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4322..4327
                     /regulatory_class="polyA_signal_sequence"
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /note="hexamer: AATAAA"
     polyA_site      4341
                     /gene="R3HDM1"
                     /gene_synonym="R3HDM"
                     /note="major polyA site"
ORIGIN      
        1 agactgctct agcaggcact cccaatgcca gactaatcag ctggatgtgt gcagtgagct
       61 ctatagagga gcaatgcaga gcatcagttt acaggtacta tggaaagaac atctccttaa
      121 ctctgtatga tgaagcaaat accaatacaa tgaaggccac ggaaaggtat gatatatttg
      181 atccaagaca gtccattcca gtccgggaat ctacagtggt gacaaggaca tgggactcct
      241 cctgccagat tacagatggt tcactacagt tgacatcctg gctgacaact gtgaaaaaga
      301 accttggatt attttatttt atttttgtgg gacaccacaa tcccaaatcc aaaggacgca
      361 tcaggagaaa attcagatcc agttaacaca atcatttgag aaagaagaga agccctcaaa
      421 agatgaagca gaaaaagaaa aggccagtga taagttgccc agaaaaatgt tatcaagaga
      481 ttccagtcaa gaatacactg attcaactgg catagatcta catgaatttt tagtaaatac
      541 attaaaaaac aatcccaggg acagaatgat gctgctgaaa ttggaacaag aaattttaga
      601 tttcattggt aataatgagt ctccacgtaa aaaattcccc ccaatgacat cttaccatag
      661 gatgctatta cacagagtag ccgcttactt tggattagac cacaatgttg atcagagtgg
      721 gaagtctgtc atagtaaaca aaactagcaa tacaagaata cctgatcaga aatttaatga
      781 acatattaag gatgataaag gtgaagactt tcagaaacgt tatatcctca agagagataa
      841 ctctagcttt gacaaagatg ataaccagat gagaatacgt ttgaaagatg acagaagaag
      901 caaatctata gaagaaagag aagaagagta ccagagagcc agagaccgaa tattttccca
      961 agattccctg tgttcccaag agaattacat tattgacaaa agactccaag acgaggatgc
     1021 cagtagtacc cagcagaggc gccagatatt tagagttaat aaagatgctt cagggagatc
     1081 tacaaatagc catcaaagca gcactgagaa tgagttgaag tactcggaac cacgaccctg
     1141 gagcagcaca gattcagaca gctctcttcg aaacctgaaa cctgctgtaa ccaaagccag
     1201 cagcttcagt ggaatctcag tcctgacaag aggtgatagt tctggaagca gcaaaagcat
     1261 aggcaggctt tcaaaaacag gttctgagtc ttctggtagt gtagggtcat ctacaggctc
     1321 tctttctcac atccagcagc ctcttccagg tacagctctc agccagtctt ctcatggcgc
     1381 acctgtcgtc tatccaactg tcagcactca tagttctctt tcctttgatg gtggcctaaa
     1441 tgggcaagtc gcatctccta gcactagctt ctttttgctt cccttggaag cggcaggcat
     1501 accacctggc agtattctga tcaacccaca aacaggtcag cccttcataa acccagatgg
     1561 gagtccagtt gtgtataatc ctcctatgac tcaacaacca gttagatccc aagtgcctgg
     1621 acctccacag ccacctctgc cagccccacc tcaacaacca gcagctaatc acattttctc
     1681 acagcaggat aacctagggt ctcagtttag ccacatgagt cttgctcgcc agccatctgc
     1741 tgatggttct gaccctcatg ccgccatgtt ccagtccact gtggttcttc agtctccaca
     1801 gcagtctggt tatatcatga cagcagcccc tccaccacat cctcctccac cgccaccacc
     1861 accacctcct cctcctcccc taccacctgg gcagccagtc cctactgctg gatatcctgc
     1921 ctctggtcat cctgtcagcc agcctgtgct ccagcagcag ggatatattc agcagccatc
     1981 accacagatg ccagcctgtt attgcgctcc aggccactat cactccagcc aacctcagta
     2041 tcgcccagtc ccttctgttc attacaattc acatctaaac caaccactgc cacaacctgc
     2101 gcagcagaca ggttatcaag ttatacccaa ccagcagcaa aactaccaag gaatagttgg
     2161 agttcagcaa ccccagagtc agagcctagt cagtggccaa cccaacagca ttggaaatca
     2221 gattcaagga gtggtcatcc cctatacttc agtgccaaca tatcaggttt cactgcctca
     2281 aggttctcaa ggaattcccc atcagactta tcaacagcct gttatgttcc ctaatcagtc
     2341 taatcaagga tctatgccca caacaggaat gcctgtttac tatagtgtca ttccacctgg
     2401 tcaacaaaac aatttaagct cttcagtagg ttacctgcaa catccaggat cagaacaagt
     2461 acaatttcct cgaaccactt caccatgcag ttcccagcag cttcaaggcc accaatgtac
     2521 agctggacca ccaccgccac ctggtggggg gatggtgatg atgcagctca gtgtaccaaa
     2581 caatccacaa tcttgtgccc actcaccccc gcagtggaaa caaaacaaat attactgtga
     2641 tcaccagaga ggacagaagt gtgtagaatt tagcagtgta gacaatattg tccagcacag
     2701 ccctcaactc agtagcccca ttatttcacc agctcagtcg ccagcaccag ctcagctgtc
     2761 caccctgaaa actgtacgtc cctctggacc accactttcc atcatgcccc aattttctag
     2821 accttttgtc cccgggcaag gagattccag gtatccatta cttggccagc cactgcagta
     2881 caatcctcct gctgttctgc acggacacat tccaaaccaa cagggtcagc ctggcagcag
     2941 gcatggaaac cgaggaagga gacaagctaa aaaagctgca tccacagacc ttggagcagg
     3001 agaaacagtt gttgggaagg tcttggaaat tactgaacta ccagatggaa taactcgcat
     3061 ggaagctgaa aagctttttg gggaactctt taaaattggc gccaagatcc ggtggctccg
     3121 ggacccccag tcccaaccac gtcgtcaccc cctctgctgt ggcagtgggg acaacactgc
     3181 caaccctgaa cgctctaaac ccagtgactt ggcctccacc tacaccgtct tagccacatt
     3241 cccctccatt tcagctgcac agaatgcact gaagaaacaa attaactcag ttaacaagtt
     3301 taagctgaga acaagcaaga agcactatga ctttcacatt ttggaaaggg caagttctca
     3361 gtaacagcca cctttggacc cttcgccttt atggttcccc tgccctctcc catctttgat
     3421 tggcttggta tttggagctt ctgttaacat tatagagact cctaggatgt gtgttcatgg
     3481 cattatagct tttgaagaaa ggccagtgat ccagcaaagg gggaaaaata tgcatttcac
     3541 cccacatgac taggaatcca catcagaatg atacagagtt agcaggtttt tctaaggaaa
     3601 tgccattcaa atgcctccta acttttatag ttattttgtt ttatatttct aaattcttgt
     3661 atcagatcca aagctctatt gtacagcaaa ttattcttca aaatgattat aaccagttgc
     3721 accctgtatt tctttttgca gccagcacaa tgtgacccaa cttaaaattt gggggaaaaa
     3781 gaatgcagga gtgaaataac caagtcaaaa ccatgtacta tctccttggg ggttagggat
     3841 gctaagaaga gcccacaaat agaggattac tcttcccctg aatctctaaa ctcagaaaca
     3901 attaccaaaa aatacataac tcttccttgt agggcccttt ccttattcat ttaggtagtg
     3961 tgaacattaa gtataaaata aattatgttc ttaatgcctc ttaaaccact tacattcaaa
     4021 ggggaacaga aatcattcta agcaggaaaa tacttccact tttttttttt caagtatctc
     4081 tctaataact aaatgccact tatttgcatt ctccttgtgg attttttgtc acctaaggaa
     4141 atgcatttga tgagtgctgg aaacttctta agtgctttac agtttgtttt cattgtttgc
     4201 agcggatcac tggacatcaa agattcattg cacttatgaa caaggaacct tcttttcaat
     4261 ttctgtgtaa tttgcaaggc tgtacaatgt gtgctgatgc aagccttttt cagttcaaga
     4321 gaataaatgt ttacaaatat a
//
