LOCUS       NM_001042367             920 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens REC114 meiotic recombination protein (REC114),
            transcript variant 1, mRNA.
ACCESSION   NM_001042367
VERSION     NM_001042367.2
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 920)
  AUTHORS   Xu,S., Zhao,J., Gao,F., Zhang,Y., Luo,J., Zhang,C., Tian,R.,
            Zhi,E., Zhang,J., Bai,F., Sun,H., Zhao,F., Huang,Y., Li,P.,
            Jiang,L., Li,Z., Yao,C. and Zhou,Z.
  TITLE     A bi-allelic REC114 loss-of-function variant causes meiotic arrest
            and nonobstructive azoospermia
  JOURNAL   Clin Genet 105 (4), 440-445 (2024)
   PUBMED   38148155
  REMARK    GeneRIF: A bi-allelic REC114 loss-of-function variant causes
            meiotic arrest and nonobstructive azoospermia.
REFERENCE   2  (bases 1 to 920)
  AUTHORS   Wang,W., Dong,J., Chen,B., Du,J., Kuang,Y., Sun,X., Fu,J., Li,B.,
            Mu,J., Zhang,Z., Zhou,Z., Lin,Z., Wu,L., Yan,Z., Mao,X., Li,Q.,
            He,L., Wang,L. and Sang,Q.
  TITLE     Homozygous mutations in REC114 cause female infertility
            characterised by multiple pronuclei formation and early embryonic
            arrest
  JOURNAL   J Med Genet 57 (3), 187-194 (2020)
   PUBMED   31704776
  REMARK    GeneRIF: Homozygous mutations in REC114 cause female infertility
            characterised by multiple pronuclei formation and early embryonic
            arrest.
REFERENCE   3  (bases 1 to 920)
  AUTHORS   Ueta,M., Sawai,H., Shingaki,R., Kawai,Y., Sotozono,C., Kojima,K.,
            Yoon,K.C., Kim,M.K., Seo,K.Y., Joo,C.K., Nagasaki,M., Kinoshita,S.
            and Tokunaga,K.
  TITLE     Genome-wide association study using the ethnicity-specific Japonica
            array: identification of new susceptibility loci for cold
            medicine-related Stevens-Johnson syndrome with severe ocular
            complications
  JOURNAL   J Hum Genet 62 (4), 485-489 (2017)
   PUBMED   28100913
  REMARK    GeneRIF: In Japanese individuals, combined genotyping for the
            associated variants thus far identified; that is, HLA-A*02:06, TLR3
            rs3775296 T/T and Rec114 rs16957893 CG, may help to predict the
            risk for cold medicine-related Stevens-Johnson syndrome /TEN with
            severe ocular complications
REFERENCE   4  (bases 1 to 920)
  AUTHORS   Kumar,R., Bourbon,H.M. and de Massy,B.
  TITLE     Functional conservation of Mei4 for meiotic DNA double-strand break
            formation from yeasts to mice
  JOURNAL   Genes Dev 24 (12), 1266-1280 (2010)
   PUBMED   20551173
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB465854.1, BC055412.1 and
            BX113903.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001042367.1.
            
            Summary: The protein encoded by this gene is orthologous to the
            mouse meiotic recombination protein REC114, which is involved in
            DNA double-strand break formation during meiosis. The encoded
            protein is conserved in most eukaryotes and was first discovered
            and characterized in yeast. [provided by RefSeq, Feb 2017].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.103808.1,
                                           SRR5189667.12067.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331090.11/ ENSP00000328423.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DB465854.1         7-23
            18-918              BC055412.1         5-905
            919-920             BX113903.1         636-637
FEATURES             Location/Qualifiers
     source          1..920
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     gene            1..920
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /note="REC114 meiotic recombination protein"
                     /db_xref="GeneID:283677"
                     /db_xref="HGNC:HGNC:25065"
                     /db_xref="MIM:618421"
     exon            1..181
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..823
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /note="isoform 1 is encoded by transcript variant 1;
                     meiotic recombination protein REC114-like"
                     /codon_start=1
                     /product="meiotic recombination protein REC114 isoform 1"
                     /protein_id="NP_001035826.1"
                     /db_xref="CCDS:CCDS45296.1"
                     /db_xref="GeneID:283677"
                     /db_xref="HGNC:HGNC:25065"
                     /db_xref="MIM:618421"
                     /translation="MAEAGKVPLSLGLTGGEAAEWPLQRYARCIPSNTRDPPGPCLEA
                     GTAPCPTWKVFDSNEESGYLVLTIVISGHFFIFQGQTLLEGFSLIGSKDWLKIVRRVD
                     CLLFGTTIKDKSRLFRVQFSGESKEQALEHCCSCVQKLAQYITVQVPDGNIQELQLIP
                     GPPRATESQGKDSAKSVPRQPGSHQHSEQQQVCVTAGTGAPDGRTSLTQLAQTLLASE
                     ELPHVYEQSAWGAEELGPFLRLCLMDQNFPAFVEEVEKELKKLAGLRN"
     exon            182..271
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /inference="alignment:Splign:2.1.0"
     exon            272..355
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /inference="alignment:Splign:2.1.0"
     exon            356..568
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /inference="alignment:Splign:2.1.0"
     exon            569..658
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /inference="alignment:Splign:2.1.0"
     exon            659..920
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      901..906
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /note="hexamer: AATAAA"
     polyA_site      920
                     /gene="REC114"
                     /gene_synonym="C15orf60; CT147; OOMD10; OZEMA10"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgtgtg gtgaggcagg acatggcgga ggcaggaaaa gtgcccttga gcctcgggct
       61 taccggagga gaagcggcag agtggcctct gcagcggtac gcccgctgca taccctcaaa
      121 caccagagac ccacctgggc catgcctgga agctgggaca gccccctgcc ccacatggaa
      181 ggtttttgat tccaatgaag aatctggata tcttgttctc accatagtta tatcaggtca
      241 tttcttcatt ttccaaggac agacactact ggaagggttt tcactcattg gtagcaagga
      301 ctggttgaag attgtaagac gcgtggattg tctgttgttt ggaacaacga taaaggacaa
      361 gagtcgcctg tttcgagtac agttcagtgg agagtcaaag gagcaggcgc tggaacactg
      421 ctgcagttgt gttcagaagc tggcacaata cataaccgtg caggtgcctg atggaaacat
      481 ccaggagctt cagctgattc ctggcccacc cagggcaact gaaagtcaag ggaaggattc
      541 tgcaaagagt gtcccacggc agcctggatc ccaccagcac tcagaacaac agcaagtgtg
      601 tgtaacagcg ggcacaggcg ctccagacgg aaggacctca ctgacgcagt tagctcagac
      661 tcttctggca tcggaggagc tgccccatgt ctatgaacaa tctgcatggg gtgcagaaga
      721 gttaggcccc ttcctacgtt tgtgccttat ggatcagaat ttcccagcat ttgtggaaga
      781 ggtagaaaag gaactgaaaa agctggcggg tttgagaaat taatgctcta tatacatata
      841 taactaagga acttcaaagt attgaaaaat gcttcctcct aaaattaaag aagatattag
      901 aataaagagt attatccaaa
//
