MNS1_HUMAN
ID MNS1_HUMAN Reviewed; 495 AA.
AC Q8NEH6; Q8IYT6; Q9NUP4;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-AUG-2007, sequence version 2.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Meiosis-specific nuclear structural protein 1 {ECO:0000305};
GN Name=MNS1 {ECO:0000312|HGNC:HGNC:29636};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS HIS-244 AND GLY-426.
RC TISSUE=Testis;
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 FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH ODAD1,
RP INVOLVEMENT IN HTX9, VARIANT HTX9 242-ARG--LYS-495 DEL, AND
RP CHARACTERIZATION OF VARIANT HTX9 242-ARG--LYS-495 DEL.
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).
RN [4]
RP INVOLVEMENT IN HTX9.
RX PubMed=31534215; DOI=10.1038/s41431-019-0489-z;
RA Leslie J.S., Rawlins L.E., Chioza B.A., Olubodun O.R., Salter C.G.,
RA Fasham J., Jones H.F., Cross H.E., Lam S., Harlalka G.V.,
RA Muggenthaler M.M.A., Crosby A.H., Baple E.L.;
RT "MNS1 variant associated with situs inversus and male infertility.";
RL Eur. J. Hum. Genet. 28:50-55(2020).
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 (By similarity).
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 (PubMed:30148830).
CC {ECO:0000250|UniProtKB:Q61884, ECO:0000269|PubMed:30148830}.
CC -!- SUBUNIT: Able to form oligomers (By similarity). Interacts with ODAD1
CC (PubMed:30148830). {ECO:0000250|UniProtKB:Q61884,
CC ECO:0000269|PubMed:30148830}.
CC -!- INTERACTION:
CC Q8NEH6; Q9NY61: AATF; NbExp=3; IntAct=EBI-743811, EBI-372428;
CC Q8NEH6; P30281: CCND3; NbExp=3; IntAct=EBI-743811, EBI-375013;
CC Q8NEH6; Q01850: CDR2; NbExp=3; IntAct=EBI-743811, EBI-1181367;
CC Q8NEH6; Q96MT8-3: CEP63; NbExp=3; IntAct=EBI-743811, EBI-11522539;
CC Q8NEH6; P28329-3: CHAT; NbExp=3; IntAct=EBI-743811, EBI-25837549;
CC Q8NEH6; Q9NRI5-2: DISC1; NbExp=3; IntAct=EBI-743811, EBI-11988027;
CC Q8NEH6; A0A0A0MR80: EP400; NbExp=3; IntAct=EBI-743811, EBI-12089140;
CC Q8NEH6; O94868-3: FCHSD2; NbExp=3; IntAct=EBI-743811, EBI-11958845;
CC Q8NEH6; O75420: GIGYF1; NbExp=3; IntAct=EBI-743811, EBI-947774;
CC Q8NEH6; P01112: HRAS; NbExp=3; IntAct=EBI-743811, EBI-350145;
CC Q8NEH6; Q15051-2: IQCB1; NbExp=3; IntAct=EBI-743811, EBI-11944935;
CC Q8NEH6; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-743811, EBI-2556193;
CC Q8NEH6; Q2KHM9: KIAA0753; NbExp=3; IntAct=EBI-743811, EBI-2805604;
CC Q8NEH6; O76011: KRT34; NbExp=3; IntAct=EBI-743811, EBI-1047093;
CC Q8NEH6; O95678: KRT75; NbExp=3; IntAct=EBI-743811, EBI-2949715;
CC Q8NEH6; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-743811, EBI-79165;
CC Q8NEH6; Q9UHP6: RSPH14; NbExp=3; IntAct=EBI-743811, EBI-748350;
CC Q8NEH6; Q86XE0: SNX32; NbExp=3; IntAct=EBI-743811, EBI-8099743;
CC Q8NEH6; Q9NZ72: STMN3; NbExp=3; IntAct=EBI-743811, EBI-725557;
CC Q8NEH6; Q6I9Y2: THOC7; NbExp=3; IntAct=EBI-743811, EBI-716286;
CC Q8NEH6; P19237: TNNI1; NbExp=3; IntAct=EBI-743811, EBI-746692;
CC Q8NEH6; P48788: TNNI2; NbExp=3; IntAct=EBI-743811, EBI-7746394;
CC Q8NEH6; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-743811, EBI-2130429;
CC Q8NEH6; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-743811, EBI-9090990;
CC Q8NEH6; Q8N3L3: TXLNB; NbExp=3; IntAct=EBI-743811, EBI-6116822;
CC Q8NEH6; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-743811, EBI-739895;
CC Q8NEH6; Q8N5A5-2: ZGPAT; NbExp=3; IntAct=EBI-743811, EBI-10183064;
CC Q8NEH6; Q9H0C1: ZMYND12; NbExp=3; IntAct=EBI-743811, EBI-12030590;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q61884}.
CC Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:30148830}.
CC Cytoplasm, cytoskeleton, flagellum axoneme
CC {ECO:0000269|PubMed:30148830}. Note=Microtubule inner protein (MIP)
CC part of the dynein-decorated doublet microtubules (DMTs) in cilia
CC axoneme. {ECO:0000250|UniProtKB:Q2KIQ2}.
CC -!- TISSUE SPECIFICITY: Expressed in nasal respiratory epithelium and in
CC the sperm. {ECO:0000269|PubMed:30148830}.
CC -!- DISEASE: Heterotaxy, visceral, 9, autosomal, with male infertility
CC (HTX9) [MIM:618948]: A form of visceral heterotaxy, a complex disorder
CC due to disruption of the normal left-right asymmetry of the
CC thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results
CC in randomization of the placement of visceral organs, including the
CC heart, lungs, liver, spleen, and stomach. The organs are oriented
CC randomly with respect to the left-right axis and with respect to one
CC another. It can be associated with a variety of congenital defects
CC including cardiac malformations. HTX9 is an autosomal recessive form
CC associated with male infertility, mainly due to defective sperm
CC motility. {ECO:0000269|PubMed:30148830, ECO:0000269|PubMed:31534215}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the MNS1 family. {ECO:0000305}.
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DR EMBL; AK002084; BAA92077.1; -; mRNA.
DR EMBL; BC031046; AAH31046.1; -; mRNA.
DR EMBL; BC034991; AAH34991.1; -; mRNA.
DR CCDS; CCDS10158.1; -.
DR RefSeq; NP_060835.1; NM_018365.2.
DR AlphaFoldDB; Q8NEH6; -.
DR SMR; Q8NEH6; -.
DR BioGRID; 120610; 60.
DR IntAct; Q8NEH6; 35.
DR MINT; Q8NEH6; -.
DR STRING; 9606.ENSP00000260453; -.
DR iPTMnet; Q8NEH6; -.
DR PhosphoSitePlus; Q8NEH6; -.
DR BioMuta; MNS1; -.
DR DMDM; 156632590; -.
DR EPD; Q8NEH6; -.
DR jPOST; Q8NEH6; -.
DR MassIVE; Q8NEH6; -.
DR PaxDb; Q8NEH6; -.
DR PeptideAtlas; Q8NEH6; -.
DR PRIDE; Q8NEH6; -.
DR ProteomicsDB; 73166; -.
DR Antibodypedia; 42705; 117 antibodies from 18 providers.
DR DNASU; 55329; -.
DR Ensembl; ENST00000260453.4; ENSP00000260453.3; ENSG00000138587.6.
DR GeneID; 55329; -.
DR KEGG; hsa:55329; -.
DR MANE-Select; ENST00000260453.4; ENSP00000260453.3; NM_018365.4; NP_060835.1.
DR UCSC; uc002adr.2; human.
DR CTD; 55329; -.
DR DisGeNET; 55329; -.
DR GeneCards; MNS1; -.
DR HGNC; HGNC:29636; MNS1.
DR HPA; ENSG00000138587; Tissue enhanced (fallopian tube, testis).
DR MalaCards; MNS1; -.
DR MIM; 610766; gene.
DR MIM; 618948; phenotype.
DR neXtProt; NX_Q8NEH6; -.
DR OpenTargets; ENSG00000138587; -.
DR PharmGKB; PA142671346; -.
DR VEuPathDB; HostDB:ENSG00000138587; -.
DR eggNOG; ENOG502QS9D; Eukaryota.
DR GeneTree; ENSGT00730000111210; -.
DR HOGENOM; CLU_034848_0_0_1; -.
DR InParanoid; Q8NEH6; -.
DR OMA; EHKRFLR; -.
DR OrthoDB; 962490at2759; -.
DR PhylomeDB; Q8NEH6; -.
DR TreeFam; TF329219; -.
DR PathwayCommons; Q8NEH6; -.
DR SignaLink; Q8NEH6; -.
DR BioGRID-ORCS; 55329; 9 hits in 1075 CRISPR screens.
DR ChiTaRS; MNS1; human.
DR GenomeRNAi; 55329; -.
DR Pharos; Q8NEH6; Tbio.
DR PRO; PR:Q8NEH6; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q8NEH6; protein.
DR Bgee; ENSG00000138587; Expressed in bronchial epithelial cell and 144 other tissues.
DR Genevisible; Q8NEH6; HS.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0005930; C:axoneme; IDA:UniProtKB.
DR GO; GO:0005882; C:intermediate filament; IEA:Ensembl.
DR GO; GO:0031514; C:motile cilium; IBA:GO_Central.
DR GO; GO:0005635; C:nuclear envelope; IEA:Ensembl.
DR GO; GO:0036126; C:sperm flagellum; IEA:Ensembl.
DR GO; GO:0042802; F:identical protein binding; IDA:MGI.
DR GO; GO:0044782; P:cilium organization; IBA:GO_Central.
DR GO; GO:0070986; P:left/right axis specification; IEA:Ensembl.
DR GO; GO:0051321; P:meiotic cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0045724; P:positive regulation of cilium assembly; IEA:Ensembl.
DR GO; GO:0007288; P:sperm axoneme assembly; IEA:Ensembl.
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;
KW Disease variant; Flagellum; Heterotaxy; Meiosis; Nucleus; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..495
FT /note="Meiosis-specific nuclear structural protein 1"
FT /id="PRO_0000298921"
FT COILED 28..410
FT /evidence="ECO:0000255"
FT MOD_RES 188
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:Q61884"
FT VARIANT 10
FT /note="C -> Y (in dbSNP:rs34807682)"
FT /id="VAR_034737"
FT VARIANT 55
FT /note="Q -> P (in dbSNP:rs1715919)"
FT /id="VAR_034738"
FT VARIANT 216
FT /note="I -> T (in dbSNP:rs35775595)"
FT /id="VAR_034739"
FT VARIANT 242..495
FT /note="Missing (in HTX9; the mutant protein is undetectable
FT in respiratory cilia from an affected patient)"
FT /evidence="ECO:0000269|PubMed:30148830"
FT /id="VAR_084460"
FT VARIANT 244
FT /note="Y -> H (in dbSNP:rs17852882)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_034740"
FT VARIANT 426
FT /note="E -> G (in dbSNP:rs17853357)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_034741"
SQ SEQUENCE 495 AA; 60571 MW; 85EF33C9A659FBD1 CRC64;
MGSKRRNLSC SERHQKLVDE NYCKKLHVQA LKNVNSQIRN QMVQNENDNR VQRKQFLRLL
QNEQFELDME EAIQKAEENK RLKELQLKQE EKLAMELAKL KHESLKDEKM RQQVRENSIE
LRELEKKLKA AYMNKERAAQ IAEKDAIKYE QMKRDAEIAK TMMEEHKRII KEENAAEDKR
NKAKAQYYLD LEKQLEEQEK KKQEAYEQLL KEKLMIDEIV RKIYEEDQLE KQQKLEKMNA
MRRYIEEFQK EQALWRKKKR EEMEEENRKI IEFANMQQQR EEDRMAKVQE NEEKRLQLQN
ALTQKLEEML RQREDLEQVR QELYQEEQAE IYKSKLKEEA EKKLRKQKEM KQDFEEQMAL
KELVLQAAKE EEENFRKTML AKFAEDDRIE LMNAQKQRMK QLEHRRAVEK LIEERRQQFL
ADKQRELEEW QLQQRRQGFI NAIIEEERLK LLKEHATNLL GYLPKGVFKK EDDIDLLGEE
FRKVYQQRSE ICEEK
