LOCUS       NM_018365               2030 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens meiosis specific nuclear structural 1 (MNS1), mRNA.
ACCESSION   NM_018365
VERSION     NM_018365.4
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 2030)
  AUTHORS   Hjeij,R., Leslie,J., Rizk,H., Dworniczak,B., Olbrich,H., Raidt,J.,
            Bode,S.F.N., Gardham,A., Stals,K., Al-Haggar,M., Osman,E.,
            Crosby,A., Eldesoky,T., Baple,E. and Omran,H.
  TITLE     Biallelic Variants in MNS1 Are Associated with Laterality Defects
            and Respiratory Involvement
  JOURNAL   Cells 13 (12), 1017 (2024)
   PUBMED   38920647
  REMARK    GeneRIF: Biallelic Variants in MNS1 Are Associated with Laterality
            Defects and Respiratory Involvement.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2030)
  AUTHORS   Gui,M., Croft,J.T., Zabeo,D., Acharya,V., Kollman,J.M.,
            Burgoyne,T., Hoog,J.L. and Brown,A.
  TITLE     SPACA9 is a lumenal protein of human ciliary singlet and doublet
            microtubules
  JOURNAL   Proc Natl Acad Sci U S A 119 (41), e2207605119 (2022)
   PUBMED   36191189
REFERENCE   3  (bases 1 to 2030)
  AUTHORS   Yi,Y., Yu,M.C., Fu,P.Y., Liu,G., Zhou,P.Y., Guan,R.Y., Zhou,C.,
            Sun,B.Y. and Qiu,S.J.
  TITLE     MNS1 promotes hepatocarcinogenesis and metastasis via activating
            PI3K/AKT by translocating beta-catenin and predicts poor prognosis
  JOURNAL   Liver Int 41 (6), 1409-1420 (2021)
   PUBMED   33506565
  REMARK    GeneRIF: MNS1 promotes hepatocarcinogenesis and metastasis via
            activating PI3K/AKT by translocating beta-catenin and predicts poor
            prognosis.
REFERENCE   4  (bases 1 to 2030)
  AUTHORS   Li,Y., Wang,W.L., Tu,C.F., Meng,L.L., Hu,T.Y., Du,J., Lin,G.,
            Nie,H.C. and Tan,Y.Q.
  TITLE     A novel homozygous frameshift mutation in MNS1 associated with
            severe oligoasthenoteratozoospermia in humans
  JOURNAL   Asian J Androl 23 (2), 197-204 (2021)
   PUBMED   33037173
  REMARK    GeneRIF: A novel homozygous frameshift mutation in MNS1 associated
            with severe oligoasthenoteratozoospermia in humans.
REFERENCE   5  (bases 1 to 2030)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 2030)
  AUTHORS   Berndt,S.I., Skibola,C.F., Joseph,V., Camp,N.J., Nieters,A.,
            Wang,Z., Cozen,W., Monnereau,A., Wang,S.S., Kelly,R.S., Lan,Q.,
            Teras,L.R., Chatterjee,N., Chung,C.C., Yeager,M.,
            Brooks-Wilson,A.R., Hartge,P., Purdue,M.P., Birmann,B.M.,
            Armstrong,B.K., Cocco,P., Zhang,Y., Severi,G.,
            Zeleniuch-Jacquotte,A., Lawrence,C., Burdette,L., Yuenger,J.,
            Hutchinson,A., Jacobs,K.B., Call,T.G., Shanafelt,T.D., Novak,A.J.,
            Kay,N.E., Liebow,M., Wang,A.H., Smedby,K.E., Adami,H.O., Melbye,M.,
            Glimelius,B., Chang,E.T., Glenn,M., Curtin,K.,
            Cannon-Albright,L.A., Jones,B., Diver,W.R., Link,B.K., Weiner,G.J.,
            Conde,L., Bracci,P.M., Riby,J., Holly,E.A., Smith,M.T.,
            Jackson,R.D., Tinker,L.F., Benavente,Y., Becker,N., Boffetta,P.,
            Brennan,P., Foretova,L., Maynadie,M., McKay,J., Staines,A.,
            Rabe,K.G., Achenbach,S.J., Vachon,C.M., Goldin,L.R., Strom,S.S.,
            Lanasa,M.C., Spector,L.G., Leis,J.F., Cunningham,J.M.,
            Weinberg,J.B., Morrison,V.A., Caporaso,N.E., Norman,A.D.,
            Linet,M.S., De Roos,A.J., Morton,L.M., Severson,R.K., Riboli,E.,
            Vineis,P., Kaaks,R., Trichopoulos,D., Masala,G., Weiderpass,E.,
            Chirlaque,M.D., Vermeulen,R.C., Travis,R.C., Giles,G.G.,
            Albanes,D., Virtamo,J., Weinstein,S., Clavel,J., Zheng,T.,
            Holford,T.R., Offit,K., Zelenetz,A., Klein,R.J., Spinelli,J.J.,
            Bertrand,K.A., Laden,F., Giovannucci,E., Kraft,P., Kricker,A.,
            Turner,J., Vajdic,C.M., Ennas,M.G., Ferri,G.M., Miligi,L.,
            Liang,L., Sampson,J., Crouch,S., Park,J.H., North,K.E., Cox,A.,
            Snowden,J.A., Wright,J., Carracedo,A., Lopez-Otin,C., Bea,S.,
            Salaverria,I., Martin-Garcia,D., Campo,E., Fraumeni,J.F. Jr., de
            Sanjose,S., Hjalgrim,H., Cerhan,J.R., Chanock,S.J., Rothman,N. and
            Slager,S.L.
  TITLE     Genome-wide association study identifies multiple risk loci for
            chronic lymphocytic leukemia
  JOURNAL   Nat Genet 45 (8), 868-876 (2013)
   PUBMED   23770605
REFERENCE   7  (bases 1 to 2030)
  AUTHORS   Zhou,J., Yang,F., Leu,N.A. and Wang,P.J.
  TITLE     MNS1 is essential for spermiogenesis and motile ciliary functions
            in mice
  JOURNAL   PLoS Genet 8 (3), e1002516 (2012)
   PUBMED   22396656
REFERENCE   8  (bases 1 to 2030)
  AUTHORS   Shakib,K., Norman,J.T., Fine,L.G., Brown,L.R. and
            Godovac-Zimmermann,J.
  TITLE     Proteomics profiling of nuclear proteins for kidney fibroblasts
            suggests hypoxia, meiosis, and cancer may meet in the nucleus
  JOURNAL   Proteomics 5 (11), 2819-2838 (2005)
   PUBMED   15942958
  REMARK    GeneRIF: A rat homologous protein was among the the nuclear
            proteins that change in abundance or form in response to prolonged
            hypoxia in the rat kidney fibroblasts.
REFERENCE   9  (bases 1 to 2030)
  AUTHORS   Hotta,Y., Furukawa,K. and Tabata,S.
  TITLE     Meiosis specific transcription and functional proteins
  JOURNAL   Adv Biophys 31, 101-115 (1995)
   PUBMED   7625268
  REMARK    Review article
REFERENCE   10 (bases 1 to 2030)
  AUTHORS   Furukawa,K., Inagaki,H., Naruge,T., Tabata,S., Tomida,T.,
            Yamaguchi,A., Yoshikuni,M., Nagahama,Y. and Hotta,Y.
  TITLE     cDNA cloning and functional characterization of a meiosis-specific
            protein (MNS1) with apparent nuclear association
  JOURNAL   Chromosome Res 2 (2), 99-113 (1994)
   PUBMED   8032679
  REMARK    GeneRIF: Cloning and functional characterization of a highly
            similar gene in mouse.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068713.8 and AC084782.2.
            
            On Aug 31, 2019 this sequence version replaced NM_018365.3.
            
            Summary: This gene encodes a protein highly similar to the mouse
            meiosis-specific nuclear structural 1 protein. The mouse protein
            was shown to be expressed at the pachytene stage during
            spermatogenesis and may function as a nuclear skeletal protein to
            regulate nuclear morphology during meiosis. [provided by RefSeq,
            Oct 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK002084.1, BC034991.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158188 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260453.4/ ENSP00000260453.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-168               AC068713.8         48026-48193         c
            169-390             AC068713.8         47082-47303         c
            391-518             AC084782.2         171128-171255       c
            519-621             AC084782.2         161575-161677       c
            622-851             AC084782.2         159178-159407       c
            852-1068            AC084782.2         158372-158588       c
            1069-1176           AC084782.2         158164-158271       c
            1177-1434           AC084782.2         148872-149129       c
            1435-1560           AC084782.2         146107-146232       c
            1561-2030           AC084782.2         143458-143927       c
FEATURES             Location/Qualifiers
     source          1..2030
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     gene            1..2030
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /note="meiosis specific nuclear structural 1"
                     /db_xref="GeneID:55329"
                     /db_xref="HGNC:HGNC:29636"
                     /db_xref="MIM:610766"
     exon            1..168
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /inference="alignment:Splign:2.1.0"
     CDS             166..1653
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /note="spermatogenesis associated 40"
                     /codon_start=1
                     /product="meiosis-specific nuclear structural protein 1"
                     /protein_id="NP_060835.1"
                     /db_xref="CCDS:CCDS10158.1"
                     /db_xref="GeneID:55329"
                     /db_xref="HGNC:HGNC:29636"
                     /db_xref="MIM:610766"
                     /translation="MGSKRRNLSCSERHQKLVDENYCKKLHVQALKNVNSQIRNQMVQ
                     NENDNRVQRKQFLRLLQNEQFELDMEEAIQKAEENKRLKELQLKQEEKLAMELAKLKH
                     ESLKDEKMRQQVRENSIELRELEKKLKAAYMNKERAAQIAEKDAIKYEQMKRDAEIAK
                     TMMEEHKRIIKEENAAEDKRNKAKAQYYLDLEKQLEEQEKKKQEAYEQLLKEKLMIDE
                     IVRKIYEEDQLEKQQKLEKMNAMRRYIEEFQKEQALWRKKKREEMEEENRKIIEFANM
                     QQQREEDRMAKVQENEEKRLQLQNALTQKLEEMLRQREDLEQVRQELYQEEQAEIYKS
                     KLKEEAEKKLRKQKEMKQDFEEQMALKELVLQAAKEEEENFRKTMLAKFAEDDRIELM
                     NAQKQRMKQLEHRRAVEKLIEERRQQFLADKQRELEEWQLQQRRQGFINAIIEEERLK
                     LLKEHATNLLGYLPKGVFKKEDDIDLLGEEFRKVYQQRSEICEEK"
     exon            169..390
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /inference="alignment:Splign:2.1.0"
     exon            391..518
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /inference="alignment:Splign:2.1.0"
     exon            519..621
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /inference="alignment:Splign:2.1.0"
     exon            622..851
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /inference="alignment:Splign:2.1.0"
     exon            852..1068
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1176
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /inference="alignment:Splign:2.1.0"
     exon            1177..1434
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..1560
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..2030
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1928..1933
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /note="hexamer: AATACA"
     polyA_site      1948
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /note="major polyA site"
     regulatory      2004..2009
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
                     /note="hexamer: AATAAA"
     polyA_site      2030
                     /gene="MNS1"
                     /gene_synonym="HTX9; SPATA40"
ORIGIN      
        1 acttttggtc gagcggaggg cgcgcagctc caccgttgcc aagacgccgc gtaaacaccc
       61 gagcgcgcgc agccaggtgc gctccttggg gctgctggct gctgcgtttg cggcgggagg
      121 tggtggccgc ggtcccacga gagggggtat ttttcgtcag ccaagatggg ttccaaaagg
      181 agaaatttga gctgtagtga aaggcatcag aaattagtag atgaaaacta ctgcaaaaaa
      241 ttacatgtcc aagctctaaa aaacgtcaac agtcaaatca ggaatcaaat ggtgcagaat
      301 gaaaatgata accgtgttca gcgcaagcaa tttctcagat tattacaaaa tgaacaattt
      361 gagttggata tggaagaggc cattcaaaag gcagaagaaa acaagagatt gaaagaactc
      421 cagctcaaac aagaagaaaa actggctatg gaattggcaa aactgaaaca tgaaagtcta
      481 aaggacgaaa agatgaggca acaagtaaga gaaaacagca ttgagcttag agaattggag
      541 aagaaattaa aagcagctta catgaataaa gaaagggcag ctcagattgc tgaaaaggat
      601 gccattaaat atgaacaaat gaaacgtgat gctgaaatag ccaaaaccat gatggaagaa
      661 cacaagagaa taataaagga agagaatgct gcagaagaca aacgaaacaa agcgaaagca
      721 cagtactatc ttgacttaga gaaacaactt gaagaacaag aaaaaaaaaa gcaggaagct
      781 tatgagcagc tgctaaaaga gaaactcatg attgatgaaa ttgttaggaa gatctatgaa
      841 gaagatcagt tggaaaaaca acaaaagtta gaaaaaatga atgcaatgcg aaggtatata
      901 gaagagtttc agaaagagca ggctctctgg agaaaaaaga aacgtgagga gatggaagaa
      961 gaaaacagaa aaatcataga gtttgctaac atgcagcagc aaagagaaga agatcggatg
     1021 gcaaaagttc aagaaaatga ggagaaaagg ctacagcttc agaatgcgtt gacacagaaa
     1081 ttagaagaaa tgctgcggca acgtgaagat ttggaacaag tgcgacaaga attataccag
     1141 gaagaacaag ctgaaatata taagagcaag ctaaaagaag aagcagaaaa gaaattgaga
     1201 aagcaaaaag agatgaagca agattttgaa gaacaaatgg ccttgaagga attagtgcta
     1261 caggctgcaa aagaggaaga ggagaacttt agaaaaacta tgctagctaa atttgctgag
     1321 gatgatcgaa tagaattaat gaatgctcag aaacaaagaa tgaagcagct ggaacacagg
     1381 agggctgtgg aaaaacttat tgaagagcgt cgccaacaat tccttgcaga caaacaacgt
     1441 gaactagaag agtggcagtt gcagcaaagg cggcaaggat ttattaatgc aattattgaa
     1501 gaagaaaggc taaaacttct taaagagcat gctacaaact tactaggcta tctccctaaa
     1561 ggagtattta aaaaagagga tgatattgat ctgcttggtg aagagttcag gaaagtatat
     1621 caacaaagga gtgaaatttg tgaagagaaa tgatatcatc aaaattgggt aaagcataga
     1681 ttttttgcat gttaccacta gatgtcagca taacttttgt tttacagttc agtggcatta
     1741 ggtatccatt gtctgtttgg attttgtaaa tcatcactga atttcataac ttgtaaacaa
     1801 ttatcagata caaattaatt ttaatcaagc tgttattttt gtactgataa tttcaaaatc
     1861 cgatttctac aacactacag agcactgttt gcatccccat cctcaagaca gtatatttac
     1921 cttgactaat acagaactct accccaaagt gaactgcctt ctgtctgtgt ttacgaactt
     1981 tacttacttg atttagccag ggaaataaat atttggaatt ttcttttaaa
//
