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MNS1_MOUSE
ID   MNS1_MOUSE              Reviewed;         491 AA.
AC   Q61884;
DT   21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1996, sequence version 1.
DT   03-AUG-2022, entry version 125.
DE   RecName: Full=Meiosis-specific nuclear structural protein 1;
GN   Name=Mns1;
OS   Mus musculus (Mouse).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC   Murinae; Mus; Mus.
OX   NCBI_TaxID=10090;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, AND TISSUE
RP   SPECIFICITY.
RC   STRAIN=ddY; TISSUE=Testis;
RX   PubMed=8032679; DOI=10.1007/bf01553489;
RA   Furukawa K., Inagaki H., Naruge T., Tabata S., Tomida T., Yamaguchi A.,
RA   Yoshikuni M., Nagahama Y., Hotta Y.;
RT   "cDNA cloning and functional characterization of a meiosis-specific nuclear
RT   structural protein (MNS1).";
RL   Chromosome Res. 2:99-113(1994).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Olfactory epithelium;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [3]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-188, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=19144319; DOI=10.1016/j.immuni.2008.11.006;
RA   Trost M., English L., Lemieux S., Courcelles M., Desjardins M.,
RA   Thibault P.;
RT   "The phagosomal proteome in interferon-gamma-activated macrophages.";
RL   Immunity 30:143-154(2009).
RN   [4]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Testis;
RX   PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA   Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA   Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT   "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL   Cell 143:1174-1189(2010).
RN   [5]
RP   FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, SUBUNIT, AND DISRUPTION
RP   PHENOTYPE.
RX   PubMed=22396656; DOI=10.1371/journal.pgen.1002516;
RA   Zhou J., Yang F., Leu N.A., Wang P.J.;
RT   "MNS1 is essential for spermiogenesis and motile ciliary functions in
RT   mice.";
RL   PLoS Genet. 8:e1002516-e1002516(2012).
RN   [6]
RP   DEVELOPMENTAL STAGE.
RX   PubMed=30148830; DOI=10.1371/journal.pgen.1007602;
RA   Ta-Shma A., Hjeij R., Perles Z., Dougherty G.W., Abu Zahira I.,
RA   Letteboer S.J.F., Antony D., Darwish A., Mans D.A., Spittler S.,
RA   Edelbusch C., Cindric S., Noethe-Menchen T., Olbrich H., Stuhlmann F.,
RA   Aprea I., Pennekamp P., Loges N.T., Breuer O., Shaag A., Rein A.J.J.T.,
RA   Gulec E.Y., Gezdirici A., Abitbul R., Elias N., Amirav I., Schmidts M.,
RA   Roepman R., Elpeleg O., Omran H.;
RT   "Homozygous loss-of-function mutations in MNS1 cause laterality defects and
RT   likely male infertility.";
RL   PLoS Genet. 14:e1007602-e1007602(2018).
CC   -!- FUNCTION: May play a role in the control of meiotic division and germ
CC       cell differentiation through regulation of pairing and recombination
CC       during meiosis. Required for sperm flagella assembly (PubMed:22396656).
CC       May play a role in the assembly and function of the outer dynein arm-
CC       docking complex (ODA-DC). ODA-DC mediates outer dynein arms (ODA)
CC       binding onto the axonemal doublet microtubules (By similarity).
CC       {ECO:0000250|UniProtKB:Q8NEH6, ECO:0000269|PubMed:22396656,
CC       ECO:0000269|PubMed:8032679}.
CC   -!- SUBUNIT: Able to form oligomers (PubMed:22396656). Interacts with ODAD1
CC       (By similarity). {ECO:0000250|UniProtKB:Q8NEH6,
CC       ECO:0000269|PubMed:22396656}.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8032679}. Cytoplasm,
CC       cytoskeleton, flagellum axoneme {ECO:0000269|PubMed:22396656}.
CC       Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q8NEH6}.
CC       Note=Microtubule inner protein (MIP) part of the dynein-decorated
CC       doublet microtubules (DMTs) in cilia axoneme.
CC       {ECO:0000250|UniProtKB:Q2KIQ2}.
CC   -!- TISSUE SPECIFICITY: High expression in testis (PubMed:22396656).
CC       Expressed in pachytene spermatocytes and post-meiotic spermatids
CC       (PubMed:8032679, PubMed:22396656). {ECO:0000269|PubMed:22396656,
CC       ECO:0000269|PubMed:8032679}.
CC   -!- DEVELOPMENTAL STAGE: Expressed in the ventral embryonic node at
CC       developmental stage 8 dpc. {ECO:0000269|PubMed:30148830}.
CC   -!- DISRUPTION PHENOTYPE: MNS1-deficient mice display situs inversus and
CC       hydrocephalus. They are sterile, exhibit a sharp reduction in sperm
CC       production, and remnant spermatozoa are immotile with abnormal short
CC       tails. {ECO:0000269|PubMed:22396656}.
CC   -!- SIMILARITY: Belongs to the MNS1 family. {ECO:0000305}.
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DR   EMBL; BC046624; AAH46624.1; -; mRNA.
DR   EMBL; D14849; BAA03577.1; -; mRNA.
DR   CCDS; CCDS40684.1; -.
DR   RefSeq; NP_032639.1; NM_008613.3.
DR   AlphaFoldDB; Q61884; -.
DR   SMR; Q61884; -.
DR   STRING; 10090.ENSMUSP00000034746; -.
DR   iPTMnet; Q61884; -.
DR   PhosphoSitePlus; Q61884; -.
DR   EPD; Q61884; -.
DR   MaxQB; Q61884; -.
DR   PaxDb; Q61884; -.
DR   PRIDE; Q61884; -.
DR   ProteomicsDB; 290284; -.
DR   Antibodypedia; 42705; 117 antibodies from 18 providers.
DR   Ensembl; ENSMUST00000034746; ENSMUSP00000034746; ENSMUSG00000032221.
DR   GeneID; 17427; -.
DR   KEGG; mmu:17427; -.
DR   UCSC; uc009qpx.2; mouse.
DR   CTD; 55329; -.
DR   MGI; MGI:107933; Mns1.
DR   VEuPathDB; HostDB:ENSMUSG00000032221; -.
DR   eggNOG; ENOG502QS9D; Eukaryota.
DR   GeneTree; ENSGT00730000111210; -.
DR   HOGENOM; CLU_034848_0_0_1; -.
DR   InParanoid; Q61884; -.
DR   OMA; EHKRFLR; -.
DR   OrthoDB; 962490at2759; -.
DR   PhylomeDB; Q61884; -.
DR   TreeFam; TF329219; -.
DR   BioGRID-ORCS; 17427; 0 hits in 73 CRISPR screens.
DR   PRO; PR:Q61884; -.
DR   Proteomes; UP000000589; Chromosome 9.
DR   RNAct; Q61884; protein.
DR   Bgee; ENSMUSG00000032221; Expressed in seminiferous tubule of testis and 189 other tissues.
DR   ExpressionAtlas; Q61884; baseline and differential.
DR   Genevisible; Q61884; MM.
DR   GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR   GO; GO:0005930; C:axoneme; IDA:MGI.
DR   GO; GO:0005882; C:intermediate filament; IDA:MGI.
DR   GO; GO:0031514; C:motile cilium; IBA:GO_Central.
DR   GO; GO:0005635; C:nuclear envelope; IDA:MGI.
DR   GO; GO:0036126; C:sperm flagellum; IDA:MGI.
DR   GO; GO:0042802; F:identical protein binding; ISO:MGI.
DR   GO; GO:0044782; P:cilium organization; IMP:MGI.
DR   GO; GO:0070986; P:left/right axis specification; IMP:MGI.
DR   GO; GO:0051321; P:meiotic cell cycle; IEA:UniProtKB-KW.
DR   GO; GO:0045724; P:positive regulation of cilium assembly; IMP:CACAO.
DR   GO; GO:0007288; P:sperm axoneme assembly; IMP:UniProtKB.
DR   GO; GO:0007283; P:spermatogenesis; IMP:CACAO.
DR   InterPro; IPR026504; MNS1.
DR   InterPro; IPR043597; TPH_dom.
DR   PANTHER; PTHR19265; PTHR19265; 1.
DR   Pfam; PF13868; TPH; 1.
PE   1: Evidence at protein level;
KW   Cell projection; Cilium; Coiled coil; Cytoplasm; Cytoskeleton; Flagellum;
KW   Meiosis; Nucleus; Phosphoprotein; Reference proteome.
FT   CHAIN           1..491
FT                   /note="Meiosis-specific nuclear structural protein 1"
FT                   /id="PRO_0000298923"
FT   COILED          29..253
FT                   /evidence="ECO:0000255"
FT   COILED          287..410
FT                   /evidence="ECO:0000255"
FT   MOD_RES         188
FT                   /note="Phosphotyrosine"
FT                   /evidence="ECO:0007744|PubMed:19144319"
SQ   SEQUENCE   491 AA;  60236 MW;  3B7BF9394C24376B CRC64;
     MATKKRALSF SEKHQKLVDE KFRKSLNIQV MNKLERQAKN QVVQNENDEK VERQRFLRVL
     QNEQFELDME EAIQKAEANK MLRDRQLEQE ERLANELARL KHESLKDKKM RQQVRENSIE
     LRELEQKLKA AYMNKERAAQ IVEKDAMKYE QMKRDAEIER IMMEEHDRLL KEESAKQERR
     NKERAQYYLD LEKQLEDQER RKQEAYEQLL KEKLMIDEIV RKIYEEDQVE RQQKLEKKNA
     IQKYIEEFQR AQDFWRQKKR EEMEEENRKI IEFANIQEQR EGERMARVHE IEEKRVQRQN
     LLMKQLEETL RQRDDLEQVR QELYQEEQAE IIKLKVKEEA ELRLRRQREM KQDFEDQMAL
     KELILQAAKE EEETFKKAML AKFAEDDRIE LMNAQKQRMK QLEHKRAVEK LIEERRSQFL
     ADKQRELEEL QLQQRRQGCI NEIIEEERLR LLKEHAAKLL GYLPKGVFKR EDDVDMLGEE
     FRKAYQKRDG V
 
 
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