LOCUS       NM_001351015            3393 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens R3H domain and coiled-coil containing 1 like
            (R3HCC1L), transcript variant 11, mRNA.
ACCESSION   NM_001351015 XM_017016076
VERSION     NM_001351015.2
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 3393)
  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
REFERENCE   2  (bases 1 to 3393)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 3393)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   4  (bases 1 to 3393)
  AUTHORS   Page,N., Butlin,D., Manyonda,I. and Lowry,P.
  TITLE     The development of a genetic profile of placental gene expression
            during the first trimester of pregnancy: a potential tool for
            identifying novel secreted markers
  JOURNAL   Fetal Diagn Ther 15 (4), 237-245 (2000)
   PUBMED   10867487
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355301.9 and AL139241.11.
            
            On Jun 2, 2019 this sequence version replaced NM_001351015.1.
            
            Transcript Variant: This variant (11) lacks an exon in the coding
            region, but maintains the reading frame, compared to variant 1.
            Variants 2, 3, 4 and 6-13 encode the same isoform (2), which is
            shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.109595.1,
                                           SRR1803615.204429.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298999.8/ ENSP00000298999.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                AL355301.9         102974-103023
            51-105              AL355301.9         124410-124464
            106-198             AL355301.9         131200-131292
            199-303             AL355301.9         131610-131714
            304-2102            AL139241.11        40980-42778
            2103-2278           AL139241.11        64391-64566
            2279-2349           AL139241.11        67325-67395
            2350-2445           AL139241.11        68304-68399
            2446-2586           AL139241.11        68903-69043
            2587-3393           AL139241.11        76970-77776
FEATURES             Location/Qualifiers
     source          1..3393
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     gene            1..3393
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /note="R3H domain and coiled-coil containing 1 like"
                     /db_xref="GeneID:27291"
                     /db_xref="HGNC:HGNC:23512"
     exon            1..50
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /inference="alignment:Splign:2.1.0"
     exon            51..105
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /inference="alignment:Splign:2.1.0"
     exon            106..198
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /inference="alignment:Splign:2.1.0"
     exon            199..303
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /inference="alignment:Splign:2.1.0"
     exon            304..2102
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /inference="alignment:Splign:2.1.0"
     CDS             318..2654
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /note="isoform 2 is encoded by transcript variant 11;
                     growth inhibition and differentiation-related protein 88;
                     growth inhibition and differentiation related protein 86;
                     putative mitochondrial space protein 32.1; R3H and
                     coiled-coil domain-containing protein 1-like; coiled-coil
                     domain-containing protein R3HCC1L"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein R3HCC1L
                     isoform 2"
                     /protein_id="NP_001337944.2"
                     /db_xref="CCDS:CCDS31267.1"
                     /db_xref="GeneID:27291"
                     /db_xref="HGNC:HGNC:23512"
                     /translation="MQQESERCRVRARRPDMALYVPKARRGAVLLKTGDEEESCGSPN
                     SVVKEKQKESSLSQKEVFKDKPEARRLNINPDRKEHNCREEKKSSTKLRMDTCLQKTN
                     RVCSKRGTTESKEVLSQGQQQGAPNAGVITNAPLQRHFKPKKVECLEVETTDVTGHER
                     ILLSQACLEISEAQVPSKPFQNVEFCDFSRHEPDGEAFEDKDLEGRIETDTKVLEILY
                     EFPRVFSSVMKPENMIVPIKLSSDSEIVQQSMQTSDGILNPSSGGITTTSVPGSPDGV
                     FDQTCVDFEVESVGGIANSTGFILDQKDTDSIPATMGHISLSESTNDTVSPVMIRECE
                     KNDSTADELHVKHEPPDTAVLAHETHRDSGFKNVGDITNKACMMDTTGMSCSDHVTVD
                     SPYVVAVRIADETSINTRSFSKFVGMSADATPLHVARSGNDTEDFSNPSACSDIYGES
                     ISSHFTESTGKLIESLSDCASSLPIKKIAGSNYNTFLDSELSMLNGTKVLSDSAVGID
                     LGSTGDTTEALHELRTAEEFKTEEQDDSGSIEFGVSFPDRESSSMETSIEPKATETSH
                     TEGITAIEESWESMFNDDGDCLDPRLLQELSGNTKSRESIQEPRSDYYNHEVPDIDLS
                     DCEFPHVIEIYDFPQEFHTEDLLRVFCSYQKKGFDIKWVDDTHALGVFSSPITARDAL
                     GIKHTMVKIRPLSQATRAAKAKARAYAEFLQPAKERPETSAALARRLVISALGVRSKQ
                     SKTEREAELKKLQEARERKRLEAKQREDIWEGRDQSTV"
     exon            2103..2278
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /inference="alignment:Splign:2.1.0"
     exon            2279..2349
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /inference="alignment:Splign:2.1.0"
     exon            2350..2445
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /inference="alignment:Splign:2.1.0"
     exon            2446..2586
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /inference="alignment:Splign:2.1.0"
     exon            2587..3393
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3369..3374
                     /regulatory_class="polyA_signal_sequence"
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /note="hexamer: ATTAAA"
     polyA_site      3393
                     /gene="R3HCC1L"
                     /gene_synonym="C10orf28; GIDRP86; GIDRP88; PSORT"
                     /note="major polyA site"
ORIGIN      
        1 agagatagag cttcgcggag acggcggaag cggagagcaa cagcgcgccg agacttccag
       61 tgtcctacta ttgaagcctg cacctgctgc attgctgttt tcctgagacg gagttttgcc
      121 atgttgtcca ggctggtgtc gaaatcctga gctcaagtgg tctgcctgcc tcggcttccc
      181 aaagtgctgg gattacaggt gaggctgctg tcagaaagga acttttacac agtttgcctt
      241 cagagacagt ctatcggcat gttgtagagt tttattacta agaaaataaa tgttacttac
      301 atgattgtgg tggtgccatg cagcaagaat cagagagatg cagagttaga gccagaaggc
      361 ctgacatggc actttatgta cctaaagctc gtaggggtgc agtactcctt aagacaggtg
      421 atgaagaaga aagctgtggt tcacctaact ctgtggtgaa agaaaagcaa aaagaaagtt
      481 ctctctccca aaaagaagtc tttaaagaca aaccggaggc tcgaagacta aatatcaatc
      541 ctgatagaaa ggagcataat tgtagagaag aaaagaaatc ttcaacaaaa ttaagaatgg
      601 acacatgcct tcaaaaaaca aatagagttt gttctaagag aggaaccact gaatccaaag
      661 aagtattatc ccaaggacaa cagcagggag ccccaaatgc tggggttata actaatgcac
      721 ctttgcagag acattttaaa ccaaagaagg tggagtgttt ggaagttgaa actacggatg
      781 tgacaggaca tgagaggata cttctttcac aggcctgttt agaaatcagc gaggctcaag
      841 ttccaagcaa accattccaa aatgtggaat tctgtgactt cagtaggcat gaacctgatg
      901 gggaagcatt tgaagacaaa gatttggaag gcagaattga aactgatacc aaggttttgg
      961 agatactata tgagtttcct agagttttta gttctgtcat gaaacctgag aatatgattg
     1021 taccaataaa actaagctct gattctgaaa ttgtacaaca aagcatgcaa acatcagatg
     1081 gaatattgaa tcccagcagc ggaggcatca ccactacttc tgttcctgga agtccagatg
     1141 gtgtctttga tcaaacttgc gtagattttg aagttgagag tgtaggtggt atagccaata
     1201 gtacaggttt catcttagat caaaaagata cagattccat tcctgcaact atgggtcaca
     1261 tctctctgtc agagagcaca aatgacactg ttagtccagt aatgattaga gaatgtgaga
     1321 agaatgacag cactgctgat gagttacatg taaagcacga acctcctgat acagctgtcc
     1381 ttgctcatga aacacataga gatagtggat ttaagaatgt aggtgacatt accaataaag
     1441 catgtatgat ggacactaca ggtatgtcct gtagtgatca tgtaactgtt gatagccctt
     1501 atgtagttgc agttagaata gctgatgaga cctctattaa tacacgaagt ttctcaaagt
     1561 ttgtaggaat gagtgcagat gcaacccctc ttcatgtagc tagaagtggg aatgacactg
     1621 aagatttcag caacccttct gcttgctcag atatttatgg tgagagtatt tcatctcatt
     1681 ttacagagtc aacaggaaag ttgatagaga gcttgtcaga ttgtgcttcc tccttaccta
     1741 taaaaaagat tgctggtagt aattataaca cttttttgga ctctgaactc agtatgttaa
     1801 atgggacaaa agttctttca gacagtgccg tgggcattga cctgggtagt actggtgata
     1861 caacagaagc attgcacgaa ctaagaactg ccgaagagtt caaaacagaa gagcaagatg
     1921 actcagggag tatagaattt ggtgtatctt ttcctgatag ggaatcatca tctatggaaa
     1981 catccatcga accaaaagca actgaaactt ctcacacaga gggaattact gccattgagg
     2041 agagctggga gtctatgttt aacgatgatg gtgactgcct ggatccacgt cttctacaag
     2101 agttatcagg gaataccaag agcagagaga gcatccagga acctagatct gattactaca
     2161 atcatgaagt tcctgatatt gacctcagtg attgtgaatt cccacatgtc attgaaattt
     2221 atgactttcc ccaagaattt catactgaag accttctacg ggttttctgc agttatcaaa
     2281 agaaaggatt tgatattaaa tgggtggatg atacacatgc cctaggagta ttctccagtc
     2341 caattacagc tcgtgatgcg ttgggtatta aacacaccat ggtgaagatt cgtcccttgt
     2401 cacaggccac aagagcagcc aaggccaaag ctagagctta tgctgagttc ctccagccag
     2461 caaaggagcg tcctgagact tcagcagccc tagccagaag gttagtcatc agtgcccttg
     2521 gggttcgaag taagcagagc aaaaccgaac gagaagcaga gctcaagaaa ctgcaagaag
     2581 ccagagagag aaagcggttg gaagccaagc aacgggaaga catctgggaa ggcagagacc
     2641 agtctacagt ttgaacatca ctcaatgaaa gggataattc catgaatcag aaaatgtttc
     2701 catagccttc agataagatg atccttccag agctctatgt acatgcagat gtgcatgtta
     2761 aagagataaa gtgatcgaga caaggactga ctgggtatag aaggaagaca gactcctgtc
     2821 ttcactccta aatgcagttc tttggaatca ccctactgtg gtgggcgtag tagggagcca
     2881 tcagctagga agaaacgtgg gagatgtgaa ttccaagagt tgcctggaca gggcaagtca
     2941 tgttagcgtg ggtcacactt ccaagatatt taaagcaaat acaaaacaga acagaggatt
     3001 caaaccgcaa gtatgggaga tttaggccct gcagaggcag accattcctt agtatctcac
     3061 aaagcagagt aatactggag gcagagtagg gggtggttgg agagcagtta gtacaaagag
     3121 gcagaacagt gtctggttta cttggcatac acagaatctg cactgccggt tccagaactg
     3181 caaagttggt gaactacagg agatgtgggt atttagactc caaagtttat actgagctca
     3241 gtgcctggga ccgctccagc tgcactgcag ccagggggga taccagcttc attcctcaga
     3301 gtaaaccaac cttgggagct gtgtgccagt tccagtgtaa gcagtaatac catgttgtaa
     3361 gagggaacat taaagcccat tttatgacat ata
//
