LOCUS       NM_001322247            4925 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens meiotic double-stranded break formation protein 4
            (MEI4), transcript variant 2, mRNA.
ACCESSION   NM_001322247 XM_005248773
VERSION     NM_001322247.2
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 4925)
  AUTHORS   Pan,Z., Wang,W., Wu,L., Yao,Z., Wang,W., Chen,Y., Gu,H., Dong,J.,
            Mu,J., Zhang,Z., Fu,J., Li,Q., Wang,L., Sun,X., Kuang,Y., Sang,Q.
            and Chen,B.
  TITLE     Bi-allelic missense variants in MEI4 cause preimplantation
            embryonic arrest and female infertility
  JOURNAL   Hum Genet 143 (9-10), 1049-1060 (2024)
   PUBMED   38252283
  REMARK    GeneRIF: Bi-allelic missense variants in MEI4 cause preimplantation
            embryonic arrest and female infertility.
REFERENCE   2  (bases 1 to 4925)
  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
REFERENCE   3  (bases 1 to 4925)
  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 4925)
  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
REFERENCE   5  (bases 1 to 4925)
  AUTHORS   Kumar,R. and De Massy,B.
  TITLE     Initiation of meiotic recombination in mammals
  JOURNAL   Genes (Basel) 1 (3), 521-549 (2010)
   PUBMED   24710101
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4925)
  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     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL591027.12, AL590785.7, AL591500.6 and CA841124.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001322247.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            CCDS Note: This CCDS representation lacks full-length INSDC
            transcript support, but it is supported by full-length SLR-RNA-seq
            data, including the accessions SRR1803611.78619.1,
            SRR1803614.53228.1, SRR1660807.243528.1 and ERR279849.4405.1. It is
            also supported by orthologous transcript alignments and by human
            RNA-seq data.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.197292.1,
                                           ERR279849.4405.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000684080.1/ ENSP00000507827.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                AL591027.12        81714-81767
            55-300              AL590785.7         7704-7949
            301-836             AL590785.7         78176-78711
            837-968             AL590785.7         145977-146108
            969-4417            AL591500.6         53976-57424
            4418-4922           CA841124.1         1-505               c
            4923-4925           AL591500.6         57930-57932
FEATURES             Location/Qualifiers
     source          1..4925
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     gene            1..4925
                     /gene="MEI4"
                     /note="meiotic double-stranded break formation protein 4"
                     /db_xref="GeneID:101928601"
                     /db_xref="HGNC:HGNC:43638"
                     /db_xref="MIM:618417"
     exon            1..54
                     /gene="MEI4"
                     /inference="alignment:Splign:2.1.0"
     exon            55..300
                     /gene="MEI4"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1226
                     /gene="MEI4"
                     /note="meiosis-specific protein MEI4-like;
                     meiosis-specific 4 homolog"
                     /codon_start=1
                     /product="meiosis-specific protein MEI4"
                     /protein_id="NP_001309176.1"
                     /db_xref="CCDS:CCDS64463.1"
                     /db_xref="GeneID:101928601"
                     /db_xref="HGNC:HGNC:43638"
                     /db_xref="MIM:618417"
                     /translation="MDVQKWYLRTSKLALALAIIRSKPADKSSREYTEHLAMLLSEEQ
                     SKWRSKVEILEAEVMQLRQKLLVSRLCSGSFKSGYVSSQLEAQEPKSSESTLTSMEDS
                     GCDLSNEQRTESSDLSQHFVESCTPTHFPPLPLVKRPCAILQNPLSSHMQFLQYLLEL
                     KNLTESGNLKRDLTHFEKDSSTVSDSVFQLLDGLITFYRNPKLPFSRFWTEAVGTLAS
                     LISDYNLSSHILKKCSKKLEEFEKTLLHAILGNNHINQFQVQHYVSQSLVTLGNCSLL
                     RKSIISLLLSEVNGFADDLGAINQEQASYDVSRYENIFYLFWVLEQLLQKETEEGNTS
                     SIGHDDQEIKKFLQKHDETIFQLSDAFPLFTFYLWRVGILLSSAQIETLRK"
     exon            301..836
                     /gene="MEI4"
                     /inference="alignment:Splign:2.1.0"
     exon            837..968
                     /gene="MEI4"
                     /inference="alignment:Splign:2.1.0"
     exon            969..4925
                     /gene="MEI4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1262..1267
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MEI4"
                     /note="hexamer: AATAAA"
     polyA_site      1288
                     /gene="MEI4"
                     /note="major polyA site"
     regulatory      4616..4621
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MEI4"
                     /note="hexamer: AATAAA"
     polyA_site      4637
                     /gene="MEI4"
     regulatory      4896..4901
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MEI4"
                     /note="hexamer: AATAAA"
     polyA_site      4925
                     /gene="MEI4"
                     /note="major polyA site"
ORIGIN      
        1 gatgaggcgt tctcttgccc tgttatcatc tcatttctgc ttctctgttt actgggacaa
       61 aagccaggat ggatgttcaa aaatggtatt tgagaacttc aaagctggct ctggccttgg
      121 caattatccg ctcaaaacca gcagacaaaa gcagcagaga atacacagag caccttgcta
      181 tgttgctgtc tgaggagcag tcaaaatgga gatcaaaagt tgaaatcttg gaagctgaag
      241 ttatgcaatt acgtcaaaaa cttcttgtga gcaggctttg ttcaggatcc tttaagagtg
      301 gatacgtttc ctcccagttg gaggctcagg aacctaagag ttctgaaagt acattaactt
      361 cgatggaaga ttctggatgt gatttgtcga atgagcagag aactgaatcc tcagacctgt
      421 cccagcactt tgtggaaagc tgtaccccca ctcactttcc accactgcct cttgtgaaaa
      481 gaccttgtgc tatcctgcaa aatcctttgt cttctcacat gcaattcttg caatatctac
      541 ttgaattaaa gaacttgaca gaatcaggta atcttaaaag agacttaacc cactttgaaa
      601 aagactcttc cacagtctct gattctgttt ttcaattgct ggatggcctg atcacttttt
      661 accgtaatcc caaacttcct ttttcaagat tttggacaga agctgttggt actttagcta
      721 gtctgatcag tgactataac ttatctagtc atattcttaa aaagtgttcc aagaagttgg
      781 aagaatttga gaaaacccta ctacatgcta ttttaggaaa caatcatata aatcagtttc
      841 aggtgcagca ttatgtctct cagagtctgg ttaccttggg aaattgcagc ttgttgagaa
      901 aatctattat atctctgctt ctatcagaag taaatggctt tgctgatgat ctgggagcca
      961 tcaatcagga gcaagccagt tatgatgtgt cacgctatga aaacattttc tacctgttct
     1021 gggttctgga gcagcttctt caaaaggaaa ccgaagaagg caacacttca agtataggtc
     1081 atgatgacca agaaatcaag aaatttcttc agaagcatga tgaaactatt ttccaacttt
     1141 ctgatgcatt tcctttgttt actttttatt tatggagagt gggcattctt ttgagctcag
     1201 cacagataga aactcttaga aaataactcc attccttagc aatttaccac gtttgaagca
     1261 taataaagta gaatatatga aaatctcata ctgaaaagat tttcaatagt attttaatta
     1321 gcattttaga attgatctct aaatataatt atcaattcaa cttaatggtt agtcttaaat
     1381 tgtatgaaat tttatgagtc atatttctat actaaaatca gccagtttcg gttggtaatg
     1441 ccatccttat tcccatgtaa ctgtatctta tttcactcaa tatagtttag ctctattatt
     1501 ctgtaaaatg gaccattaat tgtctgtccc ttaaaagata ttgaagttgt aaaagatttc
     1561 catataattg atgctaaatg gtaatcaaag aaagagattt ttaaagaagt ttagttgcat
     1621 tatcaacaca aagtgttgga atataagaag tggtcataaa tgcaattttt aaaacttttt
     1681 cttacatagt tgaacttata tcattgcttt caccttagac gagaatcata tagaagtaga
     1741 acttttttaa catttggaaa cttaattgct ttttatttat ttcaatttca tatggctaat
     1801 acatttgtcg agctcttttg aaaatactat taattagttg tttaaaatgt tctttgtttt
     1861 tcaacaaata cttgtttcaa ttctgttaat taaatatgtt ataatagtct tgtaattgtt
     1921 aaatagtata caattaagtc actagacata ttttataaat tctaatatcc atctaaaagt
     1981 gaaatttata gttatttggt ggaatttttc agttatacaa tttcattgac ttcatttcaa
     2041 tgattaaaat cataaccgca aacttaatga gcatatgtta catttcctat agtgccattt
     2101 agggaacaca aaatataaat ttcctttatt aatgatatgt gatggtgttt cataagttaa
     2161 ttagcattcc taaatgtcgt tggcattaaa agtaatcttg ataattccat ctacaatgta
     2221 tatacaatta tgtcatctgg cacaaacaat tatctttgga attatttcta gcatttttga
     2281 aaagataatg cctttttgat aatcctgaaa ctacatgtat gtcagtcagc ttttgttatg
     2341 tgacagatag ataatcaatc acaaaatatc tatcagtggc atacaacaat aatatttctc
     2401 agatatatgc aggtcactca aggatcagct gatttggact ggacttgact ttaatgaaaa
     2461 gctctgctga ggttgcacat accacaggaa taggcttctt gctaaaagtc aggctttctt
     2521 ctcttccaca tgtgcatatt ctgagaacca gacttggggg atagtagctt ctcagtggaa
     2581 gctcctctca tggcagtggc aattgagcaa gacgaaaggc taggctgaga aatgtcacat
     2641 tagcacttcc atccacatgc attgtcaaag tacatcaaat ggtcaagccc aaagaaaagt
     2701 gactgacagg ggagtagact tgagtgggag aacttgcagt tacagggcaa tgagcatgga
     2761 tgtaggtagg taattattag ggccaataat ttacttcaca acaagtacca gttgaataca
     2821 agaagtatat tccaaatctt ggattaggag ggatttttct aatgtctgat tcctgtgaac
     2881 acctgtgaag gcttatggaa gtcacttcag ttgatatagc attacacaaa atccactttc
     2941 catgacacct tcatcttctt tcattgtgat taaacaagat tggtaaatac acaagtatca
     3001 gcaatggccc tttccctatt gcagccagcc aacgtaatga tcagctaaga gacttttgga
     3061 gctacaacaa atttattaat ttcagtggtc tccaaggctt caaggtctga aaattagcct
     3121 aggaaatata tttattataa aagaagatgc aagatgttgg gatcactgtg aatgcacaaa
     3181 atggagaaac attttatttc catttggtat ccattttata taaacattta acttccacca
     3241 agtatatgat actttaatta tcctgggttt cagtctatat cagagtgaat ggtgtagtaa
     3301 attagtatta aggtccaaat ctactggtca aaaagaagat aaaatgataa aatgagacat
     3361 ttttatctgt gtttcagtaa agcagtgaat taatgaatga tttaaactgg tattacaatg
     3421 tttaagaatg ttataacagt ttatatttag gtaatgtcta actttagaat taaggtttta
     3481 gggataagag taatggagtc agtagtaatt gggcagcatt gaaactggat ataagatagg
     3541 ataggaaata aagagaacca tagaatgatc ataaaaatga agcaaataaa aagtgatgat
     3601 aattgctata actcttatac tatttaatat aagctataat aaatatatga taatatattt
     3661 tatatgagag taaatatata ttaaatattt tatatacatt tatataataa aatatatgaa
     3721 taagtaatat tatacatata tatacgatat gtataataaa taccaaatag ccaggtactt
     3781 acctaagcat tttacatata ttaaactgtt tgattctccc agcacctgta atgagaaagg
     3841 tacgattatt tcctgaatct gtattttaga gatgaagaac tcagaacttg cccaagttca
     3901 caacaccagg aagtggcagt taggtttcat cctgaggcag tccatcttcc aattccacac
     3961 tcctacttta ctgcactgcc tgttatgtgc agctctcctg gcacttcagt aaactttcac
     4021 aaacacagct tctttgcaat tgtcatcaaa gctttataca tgcttaacta tgaaccttaa
     4081 ggcacaacag tggaaattac tagcttatga ttagcttatt ttggattttt taattgctgt
     4141 aaacaagttg tcctatctat aagtaaacca gaggaacagc atctttgacc ttttcagggt
     4201 tgtagcatct tgctactcaa gactgtagcc aagttacaga ttgtcttcaa acgataatgt
     4261 cctaaaaggt acagagctcc ctccagaggt gtttaggtag actgtgaggc tgtaatgata
     4321 agcaaaatgg ggagagaaaa caaatctgac tggtttgttc ttggaaaaat atatacgatt
     4381 atctcacagg ccttgtactt tttaatggta tttgttgtct tttagccaag gtcagcatat
     4441 ttcaagagag gcagggaaac aaggcatttg catttccaaa attttatgta catttacaga
     4501 ttttctgaac gccatattat ggggaaaata ttgacagctc tgctttattg taacctaatt
     4561 tcatttattc atcaaatatg aagcaccaat tgtctacaaa ccaattattt gcaaaaataa
     4621 aacatactaa gctttaactt ttgtcagatt tatgaaacca agctttctct tagcagtcaa
     4681 tataatgacc caactacatc aatatttgct gaaggagata attaacttgt taatgtttat
     4741 ctaatattga aaaaatatat aggattttat tattgttaaa agttaattga ttccgaatta
     4801 tttatagaat tgtataatac aaaatttatc tggttaataa atatactggt cttgtaagaa
     4861 ctttctaaat attacagagt attacaaaca taaaaaataa actcagcctc ttttttgttt
     4921 cttaa
//
