LOCUS       NM_001321759            2872 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens CDAN1 interacting nuclease 1 (CDIN1), transcript
            variant 8, mRNA.
ACCESSION   NM_001321759 XM_011522110
VERSION     NM_001321759.2
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 2872)
  AUTHORS   Scott,C., Downes,D.J., Brown,J.M., Beagrie,R., Olijnik,A.A.,
            Gosden,M., Schwessinger,R., Fisher,C.A., Rose,A., Ferguson,D.J.P.,
            Johnson,E., Hill,Q.A., Okoli,S., Renella,R., Ryan,K., Brand,M.,
            Hughes,J., Roy,N.B.A., Higgs,D.R., Babbs,C. and Buckle,V.J.
  TITLE     Recapitulation of erythropoiesis in congenital dyserythropoietic
            anaemia type I (CDA-I) identifies defects in differentiation and
            nucleolar abnormalities
  JOURNAL   Haematologica 106 (11), 2960-2970 (2021)
   PUBMED   33121234
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2872)
  AUTHORS   Olijnik,A.A., Roy,N.B.A., Scott,C., Marsh,J.A., Brown,J.,
            Lauschke,K., Ask,K., Roberts,N., Downes,D.J., Brolih,S.,
            Johnson,E., Xella,B., Proven,M., Hipkiss,R., Ryan,K., Frisk,P.,
            Makk,J., Stattin,E.M., Sadasivam,N., McIlwaine,L., Hill,Q.A.,
            Renella,R., Hughes,J.R., Gibbons,R.J., Groth,A., McHugh,P.J.,
            Higgs,D.R., Buckle,V.J. and Babbs,C.
  TITLE     Genetic and functional insights into CDA-I prevalence and
            pathogenesis
  JOURNAL   J Med Genet 58 (3), 185-195 (2021)
   PUBMED   32518175
  REMARK    GeneRIF: Genetic and functional insights into CDA-I prevalence and
            pathogenesis.
REFERENCE   3  (bases 1 to 2872)
  AUTHORS   Mendez,M., Moreno-Carralero,M.I., Peri,V.L., Camacho-Galan,R.,
            Bosch-Benitez,J.M., Huerta-Aragones,J., Sanchez-Calero-Guilarte,J.,
            Moreno-Risco,M.B., Alonso-Dominguez,J.M. and Moran-Jimenez,M.J.
  TITLE     Congenital dyserythropoietic anemia types Ib, II, and III: novel
            variants in the CDIN1 gene and functional study of a novel variant
            in the KIF23 gene
  JOURNAL   Ann Hematol 100 (2), 353-364 (2021)
   PUBMED   33159567
  REMARK    GeneRIF: Congenital dyserythropoietic anemia types Ib, II, and III:
            novel variants in the CDIN1 gene and functional study of a novel
            variant in the KIF23 gene.
REFERENCE   4  (bases 1 to 2872)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2872)
  AUTHORS   Swickley,G., Bloch,Y., Malka,L., Meiri,A., Noy-Lotan,S., Yanai,A.,
            Tamary,H. and Motro,B.
  TITLE     Characterization of the interactions between Codanin-1 and
            C15Orf41, two proteins implicated in congenital dyserythropoietic
            anemia type I disease
  JOURNAL   BMC Mol Cell Biol 21 (1), 18 (2020)
   PUBMED   32293259
  REMARK    GeneRIF: Characterization of the interactions between Codanin-1 and
            C15Orf41, two proteins implicated in congenital dyserythropoietic
            anemia type I disease.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2872)
  AUTHORS   Russo,R., Marra,R., Andolfo,I., De Rosa,G., Rosato,B.E., Manna,F.,
            Gambale,A., Raia,M., Unal,S., Barella,S. and Iolascon,A.
  TITLE     Characterization of Two Cases of Congenital Dyserythropoietic
            Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein
  JOURNAL   Front Physiol 10, 621 (2019)
   PUBMED   31191338
  REMARK    Erratum:[Front Physiol. 2020 Aug 11;11:940. doi:
            10.3389/fphys.2020.00940.. PMID: 32848870]
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2872)
  AUTHORS   Rathe,M., Moller,M.B., Greisen,P.W. and Fisker,N.
  TITLE     Successful management of transfusion-dependent congenital
            dyserythropoietic anemia type 1b with interferon alfa-2a
  JOURNAL   Pediatr Blood Cancer 65 (3) (2018)
   PUBMED   29049846
REFERENCE   8  (bases 1 to 2872)
  AUTHORS   Wang,Y., Ru,Y., Liu,G., Dong,S., Li,Y., Zhu,X., Zhang,F.,
            Chang,Y.Z. and Nie,G.
  TITLE     Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese
            patients affected by congenital dyserythropoietic anemia
  JOURNAL   Gene 640, 73-78 (2018)
   PUBMED   29031773
  REMARK    GeneRIF: Mutation in C!%ORF41 gene is associated with congenital
            dyserythropoietic anemia.
REFERENCE   9  (bases 1 to 2872)
  AUTHORS   Babbs,C., Roberts,N.A., Sanchez-Pulido,L., McGowan,S.J.,
            Ahmed,M.R., Brown,J.M., Sabry,M.A., Bentley,D.R., McVean,G.A.,
            Donnelly,P., Gileadi,O., Ponting,C.P., Higgs,D.R. and Buckle,V.J.
  CONSRTM   WGS500 Consortium
  TITLE     Homozygous mutations in a predicted endonuclease are a novel cause
            of congenital dyserythropoietic anemia type I
  JOURNAL   Haematologica 98 (9), 1383-1387 (2013)
   PUBMED   23716552
REFERENCE   10 (bases 1 to 2872)
  AUTHORS   Tamary,H. and Dgany,O.
  TITLE     Congenital Dyserythropoietic Anemia Type I
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301759
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC103988.7, AC013640.7 and
            AC019016.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001321759.1.
            
            Summary: This gene encodes a protein with two predicted
            helix-turn-helix domains. Mutations in this gene were found in
            families with congenital dyserythropoietic anemia type Ib.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Mar 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.59323.1,
                                           SRR1803614.60508.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000566621.6/ ENSP00000455397.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-336               AC103988.7         151132-151467
            337-382             AC013640.7         45260-45305
            383-447             AC013640.7         46205-46269
            448-508             AC013640.7         55080-55140
            509-581             AC013640.7         58815-58887
            582-661             AC013640.7         92667-92746
            662-711             AC013640.7         93108-93157
            712-779             AC013640.7         98305-98372
            780-845             AC013640.7         110205-110270
            846-951             AC013640.7         110838-110943
            952-2872            AC019016.7         22388-24308         c
FEATURES             Location/Qualifiers
     source          1..2872
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q14"
     gene            1..2872
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /note="CDAN1 interacting nuclease 1"
                     /db_xref="GeneID:84529"
                     /db_xref="HGNC:HGNC:26929"
                     /db_xref="MIM:615626"
     exon            1..336
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /inference="alignment:Splign:2.1.0"
     CDS             236..1081
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /note="isoform 1 is encoded by transcript variant 8;
                     uncharacterized protein C15orf41"
                     /codon_start=1
                     /product="CDAN1-interacting nuclease 1 isoform 1"
                     /protein_id="NP_001308688.1"
                     /db_xref="CCDS:CCDS45215.1"
                     /db_xref="GeneID:84529"
                     /db_xref="HGNC:HGNC:26929"
                     /db_xref="MIM:615626"
                     /translation="MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIF
                     SQEYQKHIKRTHAKHHTSEAIESYYQRYLNGVVKNGAAPVLLDLANEVDYAPSLMARL
                     ILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCYGPLVDCIKHA
                     IGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKAS
                     FGDECSHHAYLHDQFWSYWNRFGPGLVIYWYGFIQELDCNRERGILLKACFPTNIVTL
                     CHSIA"
     exon            337..382
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /inference="alignment:Splign:2.1.0"
     exon            383..447
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /inference="alignment:Splign:2.1.0"
     exon            448..508
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /inference="alignment:Splign:2.1.0"
     exon            509..581
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /inference="alignment:Splign:2.1.0"
     exon            582..661
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /inference="alignment:Splign:2.1.0"
     exon            662..711
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /inference="alignment:Splign:2.1.0"
     exon            712..779
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /inference="alignment:Splign:2.1.0"
     exon            780..845
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /inference="alignment:Splign:2.1.0"
     exon            846..951
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /inference="alignment:Splign:2.1.0"
     exon            952..2872
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2852..2857
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /note="hexamer: AATAAA"
     polyA_site      2872
                     /gene="CDIN1"
                     /gene_synonym="C15orf41; HH114"
                     /note="major polyA site"
ORIGIN      
        1 actctggtgt acagccagtc cccgccgcgg aggtgccggt ggagcctggg accgggcgag
       61 tctccgcccc gcttttgcag ctaggggtgt gtttcagggg ggattggggc aagccaagca
      121 ggcgaggacc cgggcctgtg ccgctttgcc tacccctcat ccctcggcac caaggctact
      181 tgagccccag ggtgtttttt ccttgttccc gccacctcct ggtccctggc ccaacatgat
      241 actgaccaaa gctcagtacg acgagatagc ccagtgccta gtgtctgtgc cgcctaccag
      301 gcagagcctg aggaagctga agcagaggtt tcccagtcaa tcgcaggcca ctctgctgag
      361 catcttctcc caggagtacc agaaacacat taaaagaaca catgccaaac atcatacttc
      421 ggaagcaatt gaaagttatt accagaggta cctgaatgga gtggtgaaaa atggagctgc
      481 cccagtgctc ctggacctgg ccaatgaggt ggactatgcg ccctcattaa tggctcggct
      541 tatactggag aggtttctac aggaacacga ggaaactcca ccctccaagt ctattataaa
      601 tagtatgcta cgggaccctt ctcagattcc agatggagtt ctagcaaatc aggtctatca
      661 gtgcattgtg aacgactgct gttacggacc actagtggac tgcatcaagc atgccattgg
      721 tcatgagcat gaggtcctgc tgagagactt gcttctagag aaaaacctgt ccttcctaga
      781 tgaagatcag cttcgtgcaa agggttatga caaaacacca gacttcattt tacaagtacc
      841 agttgctgta gaagggcaca taattcactg gattgaaagc aaagcctcat ttggtgatga
      901 atgtagccac cacgcctacc tgcatgacca gttctggagc tactggaata gatttgggcc
      961 aggcttagtc atctattggt atggatttat ccaggagctg gactgcaacc gggaaagggg
     1021 catcctgctc aaagcctgtt tccccacgaa cattgtcacc ttatgccaca gcatagcttg
     1081 accctgaaga tcctggaaga gaagctggga ggaaaaggtg aatccggaag caattttact
     1141 ttcctgcact gtaagatcct ggcaacatct gccctgaact tcagctgaac tcttgctgcc
     1201 cgtagtcaca ccactacctc tttagacaaa catatcaaga gtttctgttt tccttcatcc
     1261 cttgctgatg tgaacagcca agaactacag acacaaccca ctcattatca gcatttctgt
     1321 ctctgtcaaa caattagttt atagatagtc ataatctttc tttcttccgg atggtttatc
     1381 cttgtatgct gaacaaaaga aaaaatgtga agactgaaag gtgtgatttt tcaattctcc
     1441 tcccagttac cgaatcaccc tcttattttt ttttccctaa gcctccgttc actgtctctc
     1501 cctctccctt tctcttcatg tgcactcaca gagacccagc attgcattac catcgtggaa
     1561 taatctagcg caaacctagg aaagctgaag ccacaaagtc caaagccacc tttgtactca
     1621 cctgcagagc tccagaagac cttgatggca gcctgcctat gctgtgtgtt tgctatattc
     1681 aatctttacg gcttcctgac ttctgtgaca gtaagccaag tgcaaaaata cacttgatga
     1741 gaatttcctc ttttaataat gttatttgaa caccacatat tttagattta tcttatttga
     1801 aagtattagt tccattgtgc ctggaaacca cactccttta gattgggggc cgagaggcga
     1861 caacccaaca ttgaggagag tttattttta aacatggcta gttgtcagta tgtacgtgag
     1921 ctagtatttt tatgagtcga gttttttaaa ggcacattct gtatactgct tagtatatgc
     1981 attttatacc atgtaattat aaaacactcg agtaagttca gcattagaaa tgtttagctt
     2041 tgtatgaact gagtgtgcca gaaataaacc tggagcaatt tttaaataag caaaataaag
     2101 gagatttttc tatttgttca ctttaattta ttcacttttg tgtactttta tgtactgcaa
     2161 atcagatttc agtctaaagc gaaacatcag taagttaata ataaacctat cttttgggaa
     2221 gttgaatatt aatctgtacc caaaacgtat ttagtaaaat atttgccccc gccaccctgc
     2281 catgctgaca taacaacttt tataatgttg aatagatgat atgggaaata ctaataacaa
     2341 caatgtaatt tttgcagaca gctttaactt atatacattg cttgattttt ttcaaaagac
     2401 taaatatgtc atttatactt tgtttatttt ctaccaaaga aggtttgtaa aaatatgcct
     2461 gctgcttttc cttttgaagg acacaaacct ggtcccaaca tgtgtggatt ttaactctga
     2521 gtggggtgca ttaaatcaaa agagagaggc agaagatgaa atgctaaaga agggtcaggc
     2581 aaacttctgt ttcagtataa aattcatcat gcaggcttct gagtgaaata gaatgatttg
     2641 aaaccactac tgtattgcct ggatacacac acacacacac acacacactt tatacaaaaa
     2701 tgttaaaagc aggtttcctg gcatgttcta aactgttttt tctttaggaa taaattacat
     2761 ttatctgcac agatgttgaa aatcctgtta aacccttgtc aaggatttgt ttattttaca
     2821 ttaaacaaat ttattatgat gaacgtgaac aaataaatta aaaaataaaa aa
//
