LOCUS       NM_001031748            2776 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens regulator of DNA class I crossover intermediates 1
            (REDIC1), transcript variant 1, mRNA.
ACCESSION   NM_001031748
VERSION     NM_001031748.4
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 2776)
  AUTHORS   Fan,S., Wang,Y., Jiang,H., Jiang,X., Zhou,J., Jiao,Y., Ye,J.,
            Xu,Z., Wang,Y., Xie,X., Zhang,H., Li,Y., Liu,W., Zhang,X., Ma,H.,
            Shi,B., Zhang,Y., Zubair,M., Shah,W., Xu,Z., Xu,B. and Shi,Q.
  TITLE     A novel recombination protein C12ORF40/REDIC1 is required for
            meiotic crossover formation
  JOURNAL   Cell Discov 9 (1), 88 (2023)
   PUBMED   37612290
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2776)
  AUTHORS   Tu,C., Wen,J., Wang,W., Zhu,Q., Chen,Y., Cheng,J., Li,Z., Meng,L.,
            Li,Y., He,W., Tan,C., Xie,C., Fu,S.M., Du,J., Lu,G., Lin,G.,
            Gou,L.T. and Tan,Y.Q.
  TITLE     Loss-of-function variants in human C12orf40 cause male infertility
            by blocking meiotic progression
  JOURNAL   Cell Discov 9 (1), 87 (2023)
   PUBMED   37604834
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2776)
  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   4  (bases 1 to 2776)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC048120.1 and AL705293.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001031748.3.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC048120.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324616.9/ ENSP00000317671.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-258               BC048120.1         1-258
            259-714             AL705293.1         251-706
            715-2776            BC048120.1         715-2776
FEATURES             Location/Qualifiers
     source          1..2776
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q12"
     gene            1..2776
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /note="regulator of DNA class I crossover intermediates 1"
                     /db_xref="GeneID:283461"
                     /db_xref="HGNC:HGNC:26846"
                     /db_xref="MIM:620495"
     exon            1..177
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /inference="alignment:Splign:2.1.0"
     CDS             155..2113
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /note="isoform 1 is encoded by transcript variant 1;
                     uncharacterized protein C12orf40; epididymis luminal
                     protein 206; epididymis secretory protein Li 94; HEI10
                     Interacting Protein 1"
                     /codon_start=1
                     /product="regulator of DNA class I crossover intermediates
                     1 isoform 1"
                     /protein_id="NP_001026918.2"
                     /db_xref="CCDS:CCDS41770.1"
                     /db_xref="GeneID:283461"
                     /db_xref="HGNC:HGNC:26846"
                     /db_xref="MIM:620495"
                     /translation="MNWVGGSRSRVLIKQERRKQKEYFEKHRLKSKMKSLGVLSPVKN
                     SAVSLDILNLYMVNQISCKKKIPETVRKPTHVNMNRDIKMPLRKHNLELTMSPHCVPS
                     KLCLDDTETNVNCQRLSSKEDLGPVQSQGMDSYSMLHPQFSKIENCSFTPSSFSVELP
                     SNRHISKLNFTSGIAPTPQKLAYEKKQNDQRSTVNCSDSLLSKLNKSQDVFSPSHKTT
                     RFGTLFERLNSLGNRNLLTKSPAVIMDEDCRSTDEIRQSDYITEKHSIQHIWGKNGKE
                     VSNFLEDVNQSTPNLLSENCDSFVSQNMINVLNIDEQRIKKTFNKCDYDSMGDTCVVT
                     SSDKNHVTDRCIRNIFTVPELTFSNSTLNKTSYPEKCQPNKKYQREYNKNERNDLSTS
                     FENDYYPSSSERKEKFENDYQEKTPQKSIQKYPANSMGNIPSEELHSKQSWDFGLDEI
                     LMEEGGIYSLKSKRISTKKISLDSAQSSRSTSYSPRPTDSCFSSSSDLPSEDEDQISQ
                     QIEDSNRMTIKTKEKMNNFYVERMAKLSGDRIVKNDDKIHKQNENFYQFSVKNNTDQF
                     PQLQCNSAHILQNKTNDNCVLQAARCDAGIQTESESVMEEKLDVAIQCDLISKCTCRS
                     DVSLCNLERCSGNIKADTTGGQEIHKNN"
     exon            178..217
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /inference="alignment:Splign:2.1.0"
     exon            218..356
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /inference="alignment:Splign:2.1.0"
     exon            357..489
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /inference="alignment:Splign:2.1.0"
     exon            490..538
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /inference="alignment:Splign:2.1.0"
     exon            539..724
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /inference="alignment:Splign:2.1.0"
     exon            725..840
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /inference="alignment:Splign:2.1.0"
     exon            841..1370
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /inference="alignment:Splign:2.1.0"
     exon            1371..1440
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /inference="alignment:Splign:2.1.0"
     exon            1441..1501
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /inference="alignment:Splign:2.1.0"
     exon            1502..1565
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /inference="alignment:Splign:2.1.0"
     exon            1566..1648
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..2776
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2752..2757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /note="hexamer: ATTAAA"
     polyA_site      2776
                     /gene="REDIC1"
                     /gene_synonym="C12orf40; HEIP1; HEL-206; HEL-S-94"
                     /note="major polyA site"
ORIGIN      
        1 aggttgggcc tcaggcggtg gaccagaagg agcttactcg ggccctgacg ttgtcaggag
       61 gccctggggg atcctgctga agctgcgatt tggcgcagag ctgagatgtc tgagctctag
      121 acacagggac ctcagtgtca aaagatttgg gaagatgaat tgggtcgggg ggtcccggtc
      181 cagggttctg atcaagcagg aaagaagaaa gcaaaaggaa tattttgaaa aacacaggtt
      241 aaaatcaaaa atgaaatcac tgggagtttt atctcctgtc aaaaattctg ctgtcagctt
      301 agacattctt aacctatata tggtaaatca gatatcttgc aagaagaaaa ttcctgaaac
      361 tgtgagaaaa ccaacccatg tgaacatgaa tagagacata aaaatgcccc taagaaagca
      421 taatttagaa cttacaatgt cgcctcactg tgtaccttct aaactctgcc ttgatgatac
      481 agaaaccaat gtaaactgtc aaagactaag tagcaaggaa gatcttggcc cagtccagtc
      541 acaaggcatg gactcatata gtatgcttca ccctcagttc agcaaaatag agaactgcag
      601 tttcactcca tcatcttttt cagtggagtt accttctaac agacatattt caaaactaaa
      661 tttcacatct ggaatagcac ctactcctca gaaacttgca tatgaaaaaa agcagaatga
      721 ccagcgcagt actgttaact gttctgattc cttgctttcc aaattaaata aaagtcaaga
      781 tgttttcagt ccatcacata aaactacacg atttgggaca ttatttgaaa gattaaacag
      841 tctaggaaat aggaatttac ttactaaaag ccctgctgta attatggatg aagattgtag
      901 aagcacggat gaaataagac agtcagacta cattactgaa aaacactcaa tacagcatat
      961 ttgggggaaa aatggaaagg aagtttcaaa ttttcttgaa gatgtgaacc agtctactcc
     1021 taaccttcta tcagagaatt gtgactcttt tgttagtcaa aatatgatca atgtattaaa
     1081 catagatgag caaaggataa agaaaacatt taacaagtgt gattatgata gtatgggaga
     1141 tacttgtgta gtcactagtt ctgataaaaa ccatgtcact gacagatgca ttagaaacat
     1201 ttttacagtt ccagagttga cttttagtaa ttcgactttg aataaaacaa gttatccaga
     1261 aaaatgtcag ccaaacaaga agtatcagag agagtataac aaaaatgaaa gaaatgatct
     1321 tagtacatct tttgagaacg attactaccc aagcagctct gaaagaaaag aaaaatttga
     1381 aaatgattac caagagaaga caccacagaa aagtattcag aaatatccag caaactctat
     1441 gggaaatata ccttcggaag aattgcactc taagcagtca tgggactttg gacttgatga
     1501 gattctgatg gaagaaggag gaatatattc tttaaaaagc aagcgaatat ctactaagaa
     1561 aatctctctt gattctgcac agagtagtcg gtctactagt tactctccaa gaccaacaga
     1621 cagctgtttc agttctagtt cagatttgcc atctgaagat gaagatcaaa tatcacagca
     1681 aattgaagat tcaaatagga tgaccatcaa aaccaaggaa aaaatgaata atttttatgt
     1741 agaaaggatg gcaaaacttt caggtgacag gattgttaaa aacgatgaca aaattcacaa
     1801 acagaatgag aatttctacc agttctcagt gaaaaataat acagatcagt ttccacagtt
     1861 gcagtgcaat tcagcccaca ttttgcaaaa caaaaccaat gataactgcg ttctgcaggc
     1921 tgcaaggtgt gatgcaggga tacaaacaga gagtgaatct gtaatggagg aaaaattaga
     1981 tgttgccata cagtgtgatc taatttcaaa atgtacatgt agaagtgatg tttctctttg
     2041 caaccttgaa aggtgcagtg gaaatattaa ggcagatacc actggagggc aggaaatcca
     2101 taagaacaac taatattcta aaatctctac ctaggatgta gaatttcact tgcccttaga
     2161 aaacaacagt aaatgttgaa aatttcatta acatgataag aaatgagaaa aagtagctaa
     2221 gcataagctg acagtgttca gggtgtatat tcacggttca tgttaaaaca ttttaatatt
     2281 attaatgtat gtatttaatt tgtatatagc catttcctta atagctttgg tatatggtag
     2341 agtttttaga aaataatata tttgtaaatg tactagcgtt tttatgtgat tattcagtat
     2401 attacaatga tgcgctgtta tttatgggtt aaaatatgct taattgcttc cttccttgta
     2461 gcatttattt taatattctt tgcagttgca ttttctggca aaaatgttcc ctttcaagat
     2521 atttaagata gaaaataata cctaatatat tttatgtcct cattataata attttgttag
     2581 ctacttctct ttaatattac agtcctattt aaaaattcta gcattaattt gtagataaca
     2641 catatcttct atttgcataa catagttttt ttgttggtgc tattaattca aaggaaaatg
     2701 ttctgtagga ttaaaagatg ttttaatgtt tttataaaat aattgtttga aattaaaaaa
     2761 tgatttatgt tactaa
//
