LOCUS       NM_152513               4016 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens meiotic double-stranded break formation protein 1
            (MEI1), mRNA.
ACCESSION   NM_152513 XM_934896 XM_934897 XM_934899 XM_934901 XM_934902
            XM_934904 XM_934906 XM_934908 XM_934911 XM_934912 XM_945977
            XM_945978 XM_945980 XM_945982-XM_945987 XM_945989
VERSION     NM_152513.4
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 4016)
  AUTHORS   Wu,X., Tian,Y., Yu,Y., He,X., Tang,X., Li,S., Shu,J. and Guo,X.
  TITLE     Novel MEI1 mutations cause chromosomal and DNA methylation
            abnormalities leading to embryonic arrest and implantation failure
  JOURNAL   Mol Genet Genomics 299 (1), 18 (2024)
   PUBMED   38416203
  REMARK    GeneRIF: Novel MEI1 mutations cause chromosomal and DNA methylation
            abnormalities leading to embryonic arrest and implantation failure.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4016)
  AUTHORS   Zhang,Y., Li,N., Ji,Z., Bai,H., Ou,N., Tian,R., Li,P., Zhi,E.,
            Huang,Y., Zhao,J., Han,Y., Zhang,J., Zhou,Y., Li,Z. and Yao,C.
  TITLE     Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive
            azoospermia
  JOURNAL   J Hum Genet 68 (6), 383-392 (2023)
   PUBMED   36759719
  REMARK    GeneRIF: Bi-allelic MEI1 variants cause meiosis arrest and
            non-obstructive azoospermia.
REFERENCE   3  (bases 1 to 4016)
  AUTHORS   Dong,J., Zhang,H., Mao,X., Zhu,J., Li,D., Fu,J., Hu,J., Wu,L.,
            Chen,B., Sun,Y., Mu,J., Zhang,Z., Sun,X., Zhao,L., Wang,W.,
            Wang,W., Zhou,Z., Zeng,Y., Du,J., Li,Q., He,L., Jin,L., Kuang,Y.,
            Wang,L. and Sang,Q.
  TITLE     Novel biallelic mutations in MEI1: expanding the phenotypic
            spectrum to human embryonic arrest and recurrent implantation
            failure
  JOURNAL   Hum Reprod 36 (8), 2371-2381 (2021)
   PUBMED   34037756
  REMARK    GeneRIF: Novel biallelic mutations in MEI1: expanding the
            phenotypic spectrum to human embryonic arrest and recurrent
            implantation failure.
REFERENCE   4  (bases 1 to 4016)
  AUTHORS   Ben Khelifa,M., Ghieh,F., Boudjenah,R., Hue,C., Fauvert,D.,
            Dard,R., Garchon,H.J. and Vialard,F.
  TITLE     A MEI1 homozygous missense mutation associated with meiotic arrest
            in a consanguineous family
  JOURNAL   Hum Reprod 33 (6), 1034-1037 (2018)
   PUBMED   29659827
  REMARK    GeneRIF: we report on a homozygous missense mutation in the gene
            coding for meiotic double-stranded break formation protein 1
            observed in two brothers with non-obstructive azoospermia and
            meiotic arrest. A fertile brother was heterozygous for the
            mutation. All the queried databases predicted that this mutation is
            damaging, and it has previously been reported that Mei1 knock-out
            is associated with meiotic arrest in a murine model.
REFERENCE   5  (bases 1 to 4016)
  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 4016)
  AUTHORS   Sato,H., Miyamoto,T., Yogev,L., Namiki,M., Koh,E., Hayashi,H.,
            Sasaki,Y., Ishikawa,M., Lamb,D.J., Matsumoto,N., Birk,O.S.,
            Niikawa,N. and Sengoku,K.
  TITLE     Polymorphic alleles of the human MEI1 gene are associated with
            human azoospermia by meiotic arrest
  JOURNAL   J Hum Genet 51 (6), 533-540 (2006)
   PUBMED   16683055
  REMARK    GeneRIF: MEI1 may play a role in meiosis during spermatogenesis,
            especially in European Americans.
REFERENCE   7  (bases 1 to 4016)
  AUTHORS   Libby,B.J., Reinholdt,L.G. and Schimenti,J.C.
  TITLE     Positional cloning and characterization of Mei1, a
            vertebrate-specific gene required for normal meiotic chromosome
            synapsis in mice
  JOURNAL   Proc Natl Acad Sci U S A 100 (26), 15706-15711 (2003)
   PUBMED   14668445
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z83840.7, BC025400.1, BC070111.1, AK094461.1 and AK092934.1.
            
            On Nov 22, 2018 this sequence version replaced NM_152513.3.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000401548.8/ ENSP00000384115.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                Z83840.7           94658-94668
            12-1716             BC025400.1         17-1721
            1717-2304           BC070111.1         1163-1750
            2305-2539           AK094461.1         80-314
            2540-4016           AK092934.1         898-2374
FEATURES             Location/Qualifiers
     source          1..4016
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..4016
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /note="meiotic double-stranded break formation protein 1"
                     /db_xref="GeneID:150365"
                     /db_xref="HGNC:HGNC:28613"
                     /db_xref="MIM:608797"
     exon            1..210
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..3861
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /note="meiosis defective 1; meiosis defective protein 1;
                     spermatogenesis associated 38; meiosis inhibitor 1"
                     /codon_start=1
                     /product="meiosis inhibitor protein 1"
                     /protein_id="NP_689726.3"
                     /db_xref="CCDS:CCDS46718.1"
                     /db_xref="GeneID:150365"
                     /db_xref="HGNC:HGNC:28613"
                     /db_xref="MIM:608797"
                     /translation="MAVRQAATAGTPGPRREEEAALLFERAHYRHDPRWLLPVTPRLC
                     LACALELLPDPGVSLVRKKHMLSCFQDALVRHTSLVTQLVSQDQRVCIHFISVLFGLL
                     CSMEDGSVTDLCIEVLIQITTQLKLEQTIRCLLDECHKELCNMPSMRGSLATLTLLGK
                     LVDAIPALADELVMEHGNLMEHLLRGLVYPSEGIQASVCYLYGKLYSSPVAAEMLSGH
                     FREKLFPLFLSILDGAQTKELQINCLGLLRQLLKYDLFVSMIMNQDGLGESAKNIEGS
                     SGNTSLPLVLKKLLLSRDETLQVASAHCITAVLVHSPAKHASAFIHADIPEFLFEHLS
                     SSSEVLVWSSCNCLTLLVEEPLFFSKCHTVYGIEAVVRSLQGSLKMNNIELHKQGLLL
                     FAEILTRQPEEIKLFTSSAMCRDAGRALQEAVSSPVLEVAAEALKATSAFLRKDHQST
                     PPVQYGELQALLEAMLNRCAEFSQTLLSRRPLGHASSRDSEKAILQRGKFLLSTLEGF
                     RSACRLAIEFQSEPSAQENPFTAPSAKKEDTLEAFSEFLLSACDSLCIPMVMRHLEQT
                     THPALMEVFLSILHNLFVIVPHMKEKFSKKLASSSFIRLTLELKARFCSGLSHSALNQ
                     VCSNFLYYMCLNLLSAPEKTGPPSKEELSAVSELLQHGLPQISSRSPESLAFLSDRQY
                     MEGAARQRQYCILLLFYLAYIHEDRFVSEAELFEAVQSFLLSLQDQGERPPLVVFKAS
                     IYLLAICQDKDNTLRETMVSAIRKFLEGIPDLQLVYTHHPLLLRFFLLYPELMSRYGH
                     RVLELWFFWEESSYEELDDVTSAGQPALPASLVVLFQLLRSIPSILLILLDLIYSSPV
                     DTAHKVLISLRTFLRRNEDIQVGGLIRGHFLLILQRLLVEHGASPSGASGNLPLLLSL
                     LSLMQLRNVSEQELDSVAMKLLHQVSKLCGKCSPTDVDILQPSFNFLYWSLHQTTPSS
                     QKRAAAVLLSSTGLMELLEKMLALTLAKADSPRTALLCSAWLLTASFSAQQHKGSLQV
                     HQTLSVEMDQVLKALSFPKKKAALLSAAILCFLRTALRQSFSSALVALVPSGAQPLPA
                     TKDTVLAPLRMSQVRSLVIGLQNLLVQKDPLLSQACVGCLEALLDYLDARSPDIALHV
                     ASQPWNRFLLFTLLDAGENSFLRPEILRLMTLFMRYRSSSVLSHEEVGDVLQGVALAD
                     LSTLSNTTLQALHGFFQQLQSMGHLADHSMAQTLQASLEGLPPSTSSGQPPLQDMLCL
                     GGVAVSLSHIRN"
     exon            211..334
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            335..385
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            386..459
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            460..565
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            566..769
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            770..900
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            901..1015
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1132
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            1133..1232
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1367
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            1368..1482
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            1483..1574
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..1716
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            1717..1828
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            1829..1889
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            1890..1987
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            1988..2156
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            2157..2304
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            2305..2580
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            2581..2746
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            2747..2851
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            2852..2962
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            2963..3123
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            3124..3205
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            3206..3381
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            3382..3463
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            3464..3570
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            3571..3702
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            3703..3815
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     exon            3816..4016
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3997..4002
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /note="hexamer: AATAAA"
     polyA_site      4016
                     /gene="MEI1"
                     /gene_synonym="HYDM3; SPATA38"
                     /note="major polyA site"
ORIGIN      
        1 gaaagagtgc cgcctcagct gagggcaagc gaggagatgg ctgtgaggca ggcggcgacg
       61 gcgggcactc ccgggcccag gagagaggaa gaggcggcgc ttctattcga gagggcccat
      121 taccggcacg acccgcgctg gctgctgccc gtgacccccc gcctgtgcct ggcctgcgcg
      181 ctggagctgc tgccggaccc cggcgtgtcg ttagtgcgca agaagcacat gttgtcctgc
      241 ttccaagatg cccttgtgag gcatacctcc ctggtcacgc aactggtgtc tcaggatcag
      301 agagtctgca tccacttcat aagtgtgctt tttggactat tatgcagcat ggaagatggg
      361 agtgtgacag acctctgtat tgaagtcctt attcagatca caacgcagct gaagctggag
      421 cagactatcc gttgcctgct ggatgagtgc cacaaagagc tgtgtaacat gccctccatg
      481 cgaggcagcc tggccaccct gacccttctt ggcaagttgg tggatgccat ccctgctctg
      541 gcagacgagc ttgtaatgga gcatggcaac ctgatggagc atctgttgag aggcttagta
      601 taccccagtg agggcataca agcttctgtc tgttaccttt atgggaagct atactcctca
      661 ccagtggcag ctgagatgct ttcaggacac ttccgtgaga agctttttcc cctcttcctt
      721 tccatcctgg atggtgccca gacaaaggag ctgcagatta actgcttggg tttgctgagg
      781 cagctgttga agtatgatct ctttgtgtcc atgatcatga accaggatgg actgggagaa
      841 agtgctaaga atatcgaagg gtcatcagga aatacctcac tgcctttggt gctcaaaaag
      901 cttctcctct ctagagatga aaccctgcag gtggccagtg ctcactgtat aactgcggtg
      961 cttgtccact ccccagcaaa gcatgcgtca gccttcatcc acgctgacat cccagagttc
     1021 ctctttgagc atctttcttc ttccagtgaa gtgctcgtct ggtccagctg taactgcttg
     1081 acactcctgg tagaagagcc actctttttt tccaagtgcc acacggtgta tgggatcgag
     1141 gcagtggtga ggagcctgca gggaagcctg aagatgaaca acatagagct gcacaagcag
     1201 ggcctgctgc ttttcgctga aatcctgacc cggcagccag aggagatcaa gctgttcaca
     1261 agctcagcca tgtgcagaga tgctggccgt gccctccaag aagcagttag cagccctgtg
     1321 ctggaggtgg ctgctgaggc cttgaaggcc acttctgctt ttctgaggaa ggaccatcag
     1381 agcactccac ctgtgcagta tggggaactg caggctttgc tagaagccat gctaaaccga
     1441 tgtgcggagt tttcccagac cttgctgagc aggaggcccc tgggccatgc ctccagtaga
     1501 gattcagaga aggccattct tcaaagggga aagttcctcc tcagcactct ggagggattt
     1561 agaagtgcct gcaggttggc tatagaattc cagagtgagc cttcagccca ggagaatcca
     1621 ttcacagctc ccagcgccaa gaaggaagac accttggagg ccttctcaga atttcttctc
     1681 agtgcctgtg actcgctgtg tatccccatg gtgatgagac acttggagca gaccacccac
     1741 ccagctttga tggaagtttt cctctcaatt ctacataacc tctttgtcat cgttccccac
     1801 atgaaggaga agttttccaa gaagcttgct tcctcatcct tcatacgact gaccctggag
     1861 ctgaaggcca ggttttgcag tggtctgagt cactcagccc taaaccaggt gtgttccaat
     1921 ttcctctact atatgtgcct caaccttctc tcagctccag agaagacagg accaccttcc
     1981 aaagaagaac tctctgcagt gtctgagctc ctgcagcatg ggctgcccca gataagcagc
     2041 aggagccctg aaagccttgc cttcctgtct gatcgccagt acatggaggg agctgctcgc
     2101 cagagacagt actgcatcct gctcctcttc tacttggcct acatccatga agacaggttt
     2161 gtctcagagg cagagttatt tgaggctgtg caaagcttcc tcctgtcgct gcaggaccag
     2221 ggcgagcgcc ccccactggt ggtcttcaaa gcctccatct atctgcttgc aatctgccag
     2281 gacaaagaca atacactacg tgagactatg gtcagtgcaa tcagaaaatt cctagaaggc
     2341 atcccagacc tgcagctagt ctatactcac catccgctcc tgctcaggtt ctttctgttg
     2401 tatccagagc tcatgagtag gtatgggcac cgtgtcctgg aactttggtt cttctgggaa
     2461 gagagcagct atgaggaact ggatgatgtc acctctgctg ggcagcccgc ccttcctgcc
     2521 agcttagtag tcctgttcca gttgctcaga agcatcccca gcatcctgct catcttgctg
     2581 gacctcatct attccagccc agtggacaca gctcacaagg tactgattag cctgaggacc
     2641 ttcctgagga ggaatgagga tatccaagtg ggcggtctta tccgaggcca cttcctgctg
     2701 atcctgcagc gtctgctagt ggagcatggg gcatccccat caggagcctc ggggaaccta
     2761 ccattgctgc tgagcctcct ctccctgatg cagctcagga atgtgtcaga gcaagaactg
     2821 gacagcgtgg ccatgaagct ccttcaccaa gtaagcaagc tgtgtgggaa gtgcagcccc
     2881 actgacgtgg acatcctgca gccctccttc aacttcctgt attggagcct tcatcagacc
     2941 acacccagca gtcagaaaag agctgctgca gtgctcctga gcagcacagg cctgatggag
     3001 cttctggaga agatgctggc cctcaccttg gcaaaggcag attctcccag gactgcactc
     3061 ctctgctctg cctggctgct cactgcctcc ttctctgccc agcagcacaa gggcagtttg
     3121 caggttcacc agacactctc tgtggaaatg gaccaagtat tgaaggctct cagctttcca
     3181 aagaaaaagg ctgcactact ctcagctgcc atcttatgct tcctgcggac agccctgcga
     3241 caaagctttt cctctgccct ggtagccctg gtgccctcag gggcccagcc actgccagcc
     3301 accaaggaca ctgtcctagc tccactgcga atgtcgcaag tccggtccct ggtcattggg
     3361 ctgcagaacc tcctggtgca gaaggaccct ctattgtccc aggcctgtgt tggctgcctg
     3421 gaggccttgc ttgactacct ggatgcccgg agcccagaca ttgctctcca cgtggcctcc
     3481 cagccttgga atcggttttt gctgtttacc ctcttggatg ctggagagaa ttccttcctc
     3541 agacctgaga ttttgaggct catgaccctg tttatgcggt accggagtag cagtgtcctc
     3601 tctcatgaag aggtgggtga tgttctgcaa ggtgtggctt tggctgacct gtctaccctc
     3661 tcgaacacca cactccaggc cctgcatggc ttcttccagc agctccagag catgggacac
     3721 ctggctgacc acagcatggc ccagaccctg caggcctcct tggagggcct tccccctagc
     3781 acctcctcag gccagccacc cctgcaggac atgctctgcc tgggaggggt ggctgtatcc
     3841 ctgtcccaca tcagaaactg atcctcagga cttgaaggcc cagaagtgga gagagaatga
     3901 gacctggaga caaagggcat aattgttggg gaaatggatg acagctgaag ctattcatat
     3961 ggagccatat actctattgt tgaaatagaa taaggaaata aaatgataca ctcaca
//
