MEI1_HUMAN
ID MEI1_HUMAN Reviewed; 1274 AA.
AC Q5TIA1; B7Z745; Q1XAP1; Q1XAP2; Q8IYJ5; Q8N5K5; Q8N9H3; Q8TC68;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 104.
DE RecName: Full=Meiosis inhibitor protein 1;
DE AltName: Full=Meiosis defective protein 1;
GN Name=MEI1 {ECO:0000312|HGNC:HGNC:28613};
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] {ECO:0000305, ECO:0000312|EMBL:AAY27427.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), TISSUE SPECIFICITY, AND
RP POSSIBLE INVOLVEMENT IN AZOOSPERMIA.
RX PubMed=16683055; DOI=10.1007/s10038-006-0394-5;
RA Sato H., Miyamoto T., Yogev L., Namiki M., Koh E., Hayashi H., Sasaki Y.,
RA Ishikawa M., Lamb D.J., Matsumoto N., Birk O.S., Niikawa N., Sengoku K.;
RT "Polymorphic alleles of the human MEI1 gene are associated with human
RT azoospermia by meiotic arrest.";
RL J. Hum. Genet. 51:533-540(2006).
RN [2] {ECO:0000305, ECO:0000312|EMBL:BAC04361.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5).
RC TISSUE=Cerebellum {ECO:0000312|EMBL:BAC04361.1}, and Synovial cell;
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 [3] {ECO:0000312|EMBL:Z83840}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [4] {ECO:0000305, ECO:0000312|EMBL:AAH25400.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4; 6 AND 7).
RC TISSUE=Leukocyte {ECO:0000312|EMBL:AAH32248.1},
RC Ovary {ECO:0000312|EMBL:AAH35720.1}, and
RC Testis {ECO:0000312|EMBL:AAH25400.1};
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 [5]
RP VARIANT ARG-408, AND POSSIBLE INVOLVEMENT IN AZOOSPERMIA.
RX PubMed=28718531; DOI=10.1111/andr.12378;
RA Nakamura S., Miyado M., Saito K., Katsumi M., Nakamura A., Kobori Y.,
RA Tanaka Y., Ishikawa H., Yoshida A., Okada H., Hata K., Nakabayashi K.,
RA Okamura K., Ogata H., Matsubara Y., Ogata T., Nakai H., Fukami M.;
RT "Next-generation sequencing for patients with non-obstructive azoospermia:
RT implications for significant roles of monogenic/oligogenic mutations.";
RL Andrology 5:824-831(2017).
RN [6]
RP VARIANT HYDM3 1151-TRP--ASN-1274 DEL, INVOLVEMENT IN HYDM3, AND TISSUE
RP SPECIFICITY.
RX PubMed=30388401; DOI=10.1016/j.ajhg.2018.10.007;
RA Nguyen N.M.P., Ge Z.J., Reddy R., Fahiminiya S., Sauthier P., Bagga R.,
RA Sahin F.I., Mahadevan S., Osmond M., Breguet M., Rahimi K., Lapensee L.,
RA Hovanes K., Srinivasan R., Van den Veyver I.B., Sahoo T., Ao A.,
RA Majewski J., Taketo T., Slim R.;
RT "Causative mutations and mechanism of androgenetic hydatidiform moles.";
RL Am. J. Hum. Genet. 103:740-751(2018).
CC -!- FUNCTION: Required for normal meiotic chromosome synapsis. May be
CC involved in the formation of meiotic double-strand breaks (DSBs) in
CC spermatocytes (By similarity). {ECO:0000250|UniProtKB:Q9D4I2}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=7;
CC Name=1 {ECO:0000269|PubMed:10591208};
CC IsoId=Q5TIA1-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:16683055}; Synonyms=Long
CC {ECO:0000269|PubMed:16683055};
CC IsoId=Q5TIA1-2; Sequence=VSP_052885;
CC Name=3 {ECO:0000269|PubMed:16683055}; Synonyms=Short
CC {ECO:0000269|PubMed:16683055};
CC IsoId=Q5TIA1-3; Sequence=VSP_052885, VSP_052889;
CC Name=4 {ECO:0000269|PubMed:15489334};
CC IsoId=Q5TIA1-4; Sequence=VSP_052887, VSP_052888;
CC Name=5 {ECO:0000269|PubMed:14702039};
CC IsoId=Q5TIA1-5; Sequence=VSP_052884, VSP_052891;
CC Name=6 {ECO:0000269|PubMed:15489334};
CC IsoId=Q5TIA1-6; Sequence=VSP_052886;
CC Name=7 {ECO:0000269|PubMed:10591208, ECO:0000269|PubMed:15489334};
CC IsoId=Q5TIA1-7; Sequence=VSP_052883, VSP_052890;
CC -!- TISSUE SPECIFICITY: Expressed predominantly in testis. Weakly expressed
CC in spleen and thymus. Expressed in the ovaries, Fallopian tubes and
CC uterus (PubMed:30388401). {ECO:0000269|PubMed:16683055,
CC ECO:0000269|PubMed:30388401}.
CC -!- DISEASE: Hydatidiform mole, recurrent, 3 (HYDM3) [MIM:618431]: A
CC disorder characterized by excessive trophoblast development that
CC produces a growing mass of tissue inside the uterus at the beginning of
CC a pregnancy. It leads to abnormal pregnancies with no embryo, and
CC cystic degeneration of the chorionic villi.
CC {ECO:0000269|PubMed:30388401}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Note=Susceptibility to azoospermia may be associated with MEI1
CC variations. {ECO:0000269|PubMed:16683055, ECO:0000269|PubMed:28718531}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH25400.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAH35720.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AY952376; AAY27427.1; -; mRNA.
DR EMBL; AY952377; AAY27428.1; -; mRNA.
DR EMBL; AK094461; BAC04361.1; -; mRNA.
DR EMBL; AK301435; BAH13481.1; -; mRNA.
DR EMBL; AL021453; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL023879; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z83840; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC025400; AAH25400.1; ALT_INIT; mRNA.
DR EMBL; BC032248; AAH32248.1; -; mRNA.
DR EMBL; BC035720; AAH35720.1; ALT_INIT; mRNA.
DR CCDS; CCDS46718.1; -. [Q5TIA1-1]
DR RefSeq; NP_689726.3; NM_152513.3. [Q5TIA1-1]
DR AlphaFoldDB; Q5TIA1; -.
DR SMR; Q5TIA1; -.
DR BioGRID; 127286; 8.
DR IntAct; Q5TIA1; 1.
DR STRING; 9606.ENSP00000384115; -.
DR iPTMnet; Q5TIA1; -.
DR PhosphoSitePlus; Q5TIA1; -.
DR BioMuta; MEI1; -.
DR DMDM; 205815070; -.
DR PaxDb; Q5TIA1; -.
DR PeptideAtlas; Q5TIA1; -.
DR PRIDE; Q5TIA1; -.
DR ProteomicsDB; 65181; -. [Q5TIA1-1]
DR Antibodypedia; 27052; 81 antibodies from 15 providers.
DR DNASU; 150365; -.
DR Ensembl; ENST00000401548.8; ENSP00000384115.3; ENSG00000167077.13. [Q5TIA1-1]
DR Ensembl; ENST00000403492.5; ENSP00000385298.1; ENSG00000167077.13. [Q5TIA1-7]
DR GeneID; 150365; -.
DR KEGG; hsa:150365; -.
DR MANE-Select; ENST00000401548.8; ENSP00000384115.3; NM_152513.4; NP_689726.3.
DR UCSC; uc003baz.2; human. [Q5TIA1-1]
DR CTD; 150365; -.
DR DisGeNET; 150365; -.
DR GeneCards; MEI1; -.
DR HGNC; HGNC:28613; MEI1.
DR HPA; ENSG00000167077; Tissue enhanced (lymphoid tissue, testis).
DR MalaCards; MEI1; -.
DR MIM; 608797; gene.
DR MIM; 618431; phenotype.
DR neXtProt; NX_Q5TIA1; -.
DR OpenTargets; ENSG00000167077; -.
DR Orphanet; 254688; Complete hydatidiform mole.
DR PharmGKB; PA162395678; -.
DR VEuPathDB; HostDB:ENSG00000167077; -.
DR eggNOG; ENOG502QV5Z; Eukaryota.
DR GeneTree; ENSGT00390000002077; -.
DR HOGENOM; CLU_006759_0_0_1; -.
DR InParanoid; Q5TIA1; -.
DR OMA; GLLCNVE; -.
DR OrthoDB; 67575at2759; -.
DR PhylomeDB; Q5TIA1; -.
DR TreeFam; TF336500; -.
DR PathwayCommons; Q5TIA1; -.
DR SignaLink; Q5TIA1; -.
DR BioGRID-ORCS; 150365; 9 hits in 1070 CRISPR screens.
DR ChiTaRS; MEI1; human.
DR GenomeRNAi; 150365; -.
DR Pharos; Q5TIA1; Tbio.
DR PRO; PR:Q5TIA1; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q5TIA1; protein.
DR Bgee; ENSG00000167077; Expressed in bone marrow cell and 114 other tissues.
DR ExpressionAtlas; Q5TIA1; baseline and differential.
DR Genevisible; Q5TIA1; HS.
DR GO; GO:0007127; P:meiosis I; IBA:GO_Central.
DR Gene3D; 1.25.10.10; -; 1.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Meiosis; Reference proteome.
FT CHAIN 1..1274
FT /note="Meiosis inhibitor protein 1"
FT /id="PRO_0000347264"
FT VAR_SEQ 1..992
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:10591208,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_052883"
FT VAR_SEQ 1..757
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_052884"
FT VAR_SEQ 1..632
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:16683055"
FT /id="VSP_052885"
FT VAR_SEQ 445..1274
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_052886"
FT VAR_SEQ 561..569
FT /note="RHLEQTTHP -> VGSPEPRAT (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_052887"
FT VAR_SEQ 570..1274
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_052888"
FT VAR_SEQ 904..938
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16683055"
FT /id="VSP_052889"
FT VAR_SEQ 1179..1222
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:10591208,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_052890"
FT VAR_SEQ 1193..1222
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_052891"
FT VARIANT 408
FT /note="T -> R (found in patients with non-obstructive
FT azoospermia; unknown pathological significance;
FT dbSNP:rs533817526)"
FT /evidence="ECO:0000269|PubMed:28718531"
FT /id="VAR_081145"
FT VARIANT 657
FT /note="E -> Q (in dbSNP:rs17002655)"
FT /id="VAR_046037"
FT VARIANT 853
FT /note="S -> T (in dbSNP:rs17002665)"
FT /id="VAR_046038"
FT VARIANT 1049
FT /note="K -> E (in dbSNP:rs12484839)"
FT /id="VAR_051184"
FT VARIANT 1151..1274
FT /note="Missing (in HYDM3; the variant leads to a normally
FT spliced transcript and two abnormal isoforms)"
FT /evidence="ECO:0000269|PubMed:30388401"
FT /id="VAR_082605"
FT CONFLICT 367
FT /note="I -> T (in Ref. 4; AAH35720)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1274 AA; 141161 MW; 3F339400DD50B11E CRC64;
MAVRQAATAG TPGPRREEEA ALLFERAHYR HDPRWLLPVT PRLCLACALE LLPDPGVSLV
RKKHMLSCFQ DALVRHTSLV TQLVSQDQRV CIHFISVLFG LLCSMEDGSV TDLCIEVLIQ
ITTQLKLEQT IRCLLDECHK ELCNMPSMRG SLATLTLLGK LVDAIPALAD ELVMEHGNLM
EHLLRGLVYP SEGIQASVCY LYGKLYSSPV AAEMLSGHFR EKLFPLFLSI LDGAQTKELQ
INCLGLLRQL LKYDLFVSMI MNQDGLGESA KNIEGSSGNT SLPLVLKKLL LSRDETLQVA
SAHCITAVLV HSPAKHASAF IHADIPEFLF EHLSSSSEVL VWSSCNCLTL LVEEPLFFSK
CHTVYGIEAV VRSLQGSLKM NNIELHKQGL LLFAEILTRQ PEEIKLFTSS AMCRDAGRAL
QEAVSSPVLE VAAEALKATS AFLRKDHQST PPVQYGELQA LLEAMLNRCA EFSQTLLSRR
PLGHASSRDS EKAILQRGKF LLSTLEGFRS ACRLAIEFQS EPSAQENPFT APSAKKEDTL
EAFSEFLLSA CDSLCIPMVM RHLEQTTHPA LMEVFLSILH NLFVIVPHMK EKFSKKLASS
SFIRLTLELK ARFCSGLSHS ALNQVCSNFL YYMCLNLLSA PEKTGPPSKE ELSAVSELLQ
HGLPQISSRS PESLAFLSDR QYMEGAARQR QYCILLLFYL AYIHEDRFVS EAELFEAVQS
FLLSLQDQGE RPPLVVFKAS IYLLAICQDK DNTLRETMVS AIRKFLEGIP DLQLVYTHHP
LLLRFFLLYP ELMSRYGHRV LELWFFWEES SYEELDDVTS AGQPALPASL VVLFQLLRSI
PSILLILLDL IYSSPVDTAH KVLISLRTFL RRNEDIQVGG LIRGHFLLIL QRLLVEHGAS
PSGASGNLPL LLSLLSLMQL RNVSEQELDS VAMKLLHQVS KLCGKCSPTD VDILQPSFNF
LYWSLHQTTP SSQKRAAAVL LSSTGLMELL EKMLALTLAK ADSPRTALLC SAWLLTASFS
AQQHKGSLQV HQTLSVEMDQ VLKALSFPKK KAALLSAAIL CFLRTALRQS FSSALVALVP
SGAQPLPATK DTVLAPLRMS QVRSLVIGLQ NLLVQKDPLL SQACVGCLEA LLDYLDARSP
DIALHVASQP WNRFLLFTLL DAGENSFLRP EILRLMTLFM RYRSSSVLSH EEVGDVLQGV
ALADLSTLSN TTLQALHGFF QQLQSMGHLA DHSMAQTLQA SLEGLPPSTS SGQPPLQDML
CLGGVAVSLS HIRN