LOCUS       NM_001321739            2544 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens meiosis 1 associated protein (M1AP), transcript
            variant 4, mRNA.
ACCESSION   NM_001321739 XM_006711947
VERSION     NM_001321739.2
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 2544)
  AUTHORS   Gerlevik,U., Ergoren,M.C., Sezerman,O.U. and Temel,S.G.
  TITLE     Structural analysis of M1AP variants associated with severely
            impaired spermatogenesis causing male infertility
  JOURNAL   PeerJ 10, e12947 (2022)
   PUBMED   35341049
  REMARK    GeneRIF: Structural analysis of M1AP variants associated with
            severely impaired spermatogenesis causing male infertility.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2544)
  AUTHORS   Wyrwoll,M.J., Temel,S.G., Nagirnaja,L., Oud,M.S., Lopes,A.M., van
            der Heijden,G.W., Heald,J.S., Rotte,N., Wistuba,J., Woste,M.,
            Ledig,S., Krenz,H., Smits,R.M., Carvalho,F., Goncalves,J.,
            Fietz,D., Turkgenc,B., Ergoren,M.C., Cetinkaya,M., Basar,M.,
            Kahraman,S., McEleny,K., Xavier,M.J., Turner,H., Pilatz,A.,
            Ropke,A., Dugas,M., Kliesch,S., Neuhaus,N., Aston,K.I.,
            Conrad,D.F., Veltman,J.A., Friedrich,C. and Tuttelmann,F.
  CONSRTM   GEMINI Consortium
  TITLE     Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest
            and Severely Impaired Spermatogenesis Leading to Male Infertility
  JOURNAL   Am J Hum Genet 107 (2), 342-351 (2020)
   PUBMED   32673564
REFERENCE   3  (bases 1 to 2544)
  AUTHORS   Tu,C., Wang,Y., Nie,H., Meng,L., Wang,W., Li,Y., Li,D., Zhang,H.,
            Lu,G., Lin,G., Tan,Y.Q. and Du,J.
  TITLE     An M1AP homozygous splice-site mutation associated with severe
            oligozoospermia in a consanguineous family
  JOURNAL   Clin Genet 97 (5), 741-746 (2020)
   PUBMED   32017041
  REMARK    GeneRIF: An M1AP homozygous splice-site mutation associated with
            severe oligozoospermia in a consanguineous family.
REFERENCE   4  (bases 1 to 2544)
  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 2544)
  AUTHORS   Arango,N.A., Li,L., Dabir,D., Nicolau,F., Pieretti-Vanmarcke,R.,
            Koehler,C., McCarrey,J.R., Lu,N. and Donahoe,P.K.
  TITLE     Meiosis I arrest abnormalities lead to severe oligozoospermia in
            meiosis 1 arresting protein (M1ap)-deficient mice
  JOURNAL   Biol Reprod 88 (3), 76 (2013)
   PUBMED   23269666
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2544)
  AUTHORS   Arango,N.A., Huang,T.T., Fujino,A., Pieretti-Vanmarcke,R. and
            Donahoe,P.K.
  TITLE     Expression analysis and evolutionary conservation of the mouse germ
            cell-specific D6Mm5e gene
  JOURNAL   Dev Dyn 235 (9), 2613-2619 (2006)
   PUBMED   16881047
REFERENCE   7  (bases 1 to 2544)
  AUTHORS   Jang,W., Hua,A., Spilson,S.V., Miller,W., Roe,B.A. and Meisler,M.H.
  TITLE     Comparative sequence of human and mouse BAC clones from the mnd2
            region of chromosome 2p13
  JOURNAL   Genome Res 9 (1), 53-61 (1999)
   PUBMED   9927484
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DR158220.1 and BC025997.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001321739.1.
            
            Summary: This gene encodes a protein that is likely to function in
            progression of meiosis. A similar protein in mouse plays a role in
            gametogenesis in both sexes. Alternate splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Jul 2013].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.71618.1,
                                           SRR1803616.116210.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000421985.2/ ENSP00000414882.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-66                DR158220.1         9-74
            67-2544             BC025997.1         69-2546
FEATURES             Location/Qualifiers
     source          1..2544
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     gene            1..2544
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /note="meiosis 1 associated protein"
                     /db_xref="GeneID:130951"
                     /db_xref="HGNC:HGNC:25183"
                     /db_xref="MIM:619098"
     exon            1..66
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /inference="alignment:Splign:2.1.0"
     exon            67..358
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /inference="alignment:Splign:2.1.0"
     CDS             119..1711
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /note="isoform 1 is encoded by transcript variant 4;
                     meiosis 1 arresting protein; spermatogenesis associated
                     37; meiosis 1 arrest protein"
                     /codon_start=1
                     /product="meiosis 1 arrest protein isoform 1"
                     /protein_id="NP_001308668.1"
                     /db_xref="CCDS:CCDS33229.1"
                     /db_xref="GeneID:130951"
                     /db_xref="HGNC:HGNC:25183"
                     /db_xref="MIM:619098"
                     /translation="MHPGRTTGKGPSTHTQIDQQPPRLLIVHIALPSWADICTNLCEA
                     LQNFFSLACSLMGPSRMSLFSLYMVQDQHECILPFVQVKGNFARLQTCISELRMLQRE
                     GCFRSQGASLRLAVEDGLQQFKQYSRHVTTRAALTYTSLEITILTSQPGKEVVKQLEE
                     GLKDTDLARVRRFQVVEVTKGILEHVDSASPVEDTSNDESSILGTDIDLQTIDNDIVS
                     MEIFFKAWLHNSGTDQEQIHLLLSSQCFSNISRPRDNPMCLKCDLQERLLCPSLLAGT
                     ADGSLRMDDPKGDFITLYQMASQSSASHYKLQVIKALKSSGLCESLTYGLPFILRPTS
                     CWQLDWDELETNQQHFHALCHSLLKREWLLLAKGEPPGPGHSQRIPASTFYVIMPSHS
                     LTLLVKAVATRELMLPSTFPLLPEDPHDDSLKNVESMLDSLELEPTYNPLHVQSHLYS
                     HLSSIYAKPQGRLHPHWESRAPRKHPCKTGQLQTNRARATVAPLPMTPVPGRASKMPA
                     ASKSSSDAFFLPSEWEKDPSRP"
     exon            359..544
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /inference="alignment:Splign:2.1.0"
     exon            545..713
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /inference="alignment:Splign:2.1.0"
     exon            714..887
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /inference="alignment:Splign:2.1.0"
     exon            888..1050
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /inference="alignment:Splign:2.1.0"
     exon            1051..1192
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1399
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..1540
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /inference="alignment:Splign:2.1.0"
     exon            1541..1552
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /inference="alignment:Splign:2.1.0"
     exon            1553..2544
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2516..2521
                     /regulatory_class="polyA_signal_sequence"
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /note="hexamer: CATAAA"
     regulatory      2523..2528
                     /regulatory_class="polyA_signal_sequence"
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /note="hexamer: AATAAA"
     polyA_site      2534
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
     polyA_site      2544
                     /gene="M1AP"
                     /gene_synonym="C2orf65; D6Mm5e; SPATA37; SPGF48"
                     /note="major polyA site"
ORIGIN      
        1 gaacgcgcgg gcgcacgctg agagccggga ggaccaggtg agggggcctc cgtcttccga
       61 agacaggtgt aaagaatatc cagctggtgg ctacagttcc ccctctggtt ttgctgccat
      121 gcatcctggg cgaactactg gtaaagggcc ctctactcac actcagattg accagcaacc
      181 tccacggctt ctcattgtgc acattgctct accgtcctgg gctgacatct gcaccaacct
      241 ctgtgaggct ctgcagaact tcttctctct agcctgcagc ttgatgggcc ccagccgcat
      301 gtccctgttc agtttataca tggtacaaga tcagcatgag tgcatcctcc cttttgtgca
      361 agtgaaaggg aactttgcta ggttgcagac ctgcatctca gaactccgca tgttacagag
      421 agaagggtgt ttcagatcac aaggtgcttc tctgcggctg gcagtagagg atgggctcca
      481 gcaattcaaa caatacagca gacatgtgac cacaagggca gctctgacct atacctccct
      541 ggagattact attctgactt ctcagcctgg aaaagaggtg gtcaaacagt tggaggaagg
      601 gttgaaagat acagacctag ccagagtcag gaggtttcag gtcgttgagg tcacaaaggg
      661 aatcctagag cacgtggact cagcgtctcc tgttgaggat accagcaatg atgagagttc
      721 tattctggga actgacattg accttcagac tatagacaat gatatcgtca gcatggagat
      781 tttcttcaaa gcctggctac ataacagtgg aacagaccaa gaacaaatcc atcttcttct
      841 ttcttcacag tgtttcagca acatttccag acccagagat aatccaatgt gtctgaaatg
      901 tgatctccaa gagcgactgc tctgcccatc cctactcgct ggcacagctg acggctcctt
      961 gagaatggat gaccctaaag gagacttcat cacactctac cagatggctt cccagtcatc
     1021 ggcctctcat tacaagctcc aagtgatcaa ggctttaaaa tctagcgggc tctgcgagtc
     1081 attgacatat ggactcccgt tcatcctcag acctacaagc tgttggcagc tggactggga
     1141 tgagctggag acaaatcagc aacatttcca tgctttgtgt cacagcctgc tgaaaaggga
     1201 atggctgctg ttagccaagg gggaaccacc gggcccagga cacagccaga gaattcctgc
     1261 cagcaccttc tatgtgatca tgccgtcaca ctccctcaca ctgctggtaa aggcggtggc
     1321 cacgcgggaa ctgatgctgc ccagcacctt ccccctgcta cctgaggacc cacatgatga
     1381 tagccttaag aatgtggaga gcatgctgga cagcctggag ctggagccca cctacaaccc
     1441 cttgcatgtt caaagccacc tgtactcaca cctgagcagc atctatgcca agcctcaggg
     1501 gcggctccac ccacactggg agagccgagc tccgagaaag catccctgca agactgggca
     1561 gttgcagacc aaccgagctc gagctactgt ggcccccctg cctatgactc ctgtcccagg
     1621 cagagcctcc aagatgccag cagccagcaa atcttcctca gatgccttct tcctgccttc
     1681 agagtgggag aaggatccct caaggcccta agtcaccagc accagagccc agctgcccag
     1741 cttaaccata tccatgctca ggttcacata atggctatct gtggtcagac ttgctctcta
     1801 tccgcctgag cctctgtgag tgagggctga ctgggaaaca acagccttcc tgtcctgttt
     1861 cagtgctgtc ccactcctca agtctggaag cgacacaccc gagcctgtcc tttctccagc
     1921 aaggactttc attttcttta gaatcatttg ctactgttta cacaggtgaa gattaaacac
     1981 ccagtaagct tctaccattg ttaggagcat tcataactca gaatttcttc ttgtagctct
     2041 gtgtaagcag gtggatgagg tcagatcacc tttggtaaac tggacctcag gaacaaggat
     2101 gaggttttga aagctcataa aagacaagta agattgaaat ccaagcctca tttcagagcc
     2161 tgtgcccttc ccactacacc accaggcttc agcctccaaa gagacaagtg cttggtacct
     2221 acatgcaaag tgtgtgtgct ggggggtggg agggctgccc agaacagggg agaggatggt
     2281 gtaaaaaaag acctactcct ttcctgttac cctctcccca catgtaccaa ccttcctgtt
     2341 gctccctcca tccacagaat aatagctacc atttataaaa tgtttactct gggctgggag
     2401 cagtggctca cacctgtaat cccaacactt tgagaggctg aggtgggatg atcacttgag
     2461 gccaggagtt cgagaccagc ctgagcaaca ctgtgagacc cccccgccat ctctacataa
     2521 ataataaaaa cttttaaaaa aaca
//
