MEI4_HUMAN
ID MEI4_HUMAN Reviewed; 385 AA.
AC A8MW99; R4GMV8;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-DEC-2013, sequence version 2.
DT 03-AUG-2022, entry version 77.
DE RecName: Full=Meiosis-specific protein MEI4;
GN Name=MEI4 {ECO:0000312|HGNC:HGNC:43638};
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 GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [2]
RP INTERACTION WITH REC114.
RX PubMed=31704776; DOI=10.1136/jmedgenet-2019-106379;
RA Wang W., Dong J., Chen B., Du J., Kuang Y., Sun X., Fu J., Li B., Mu J.,
RA Zhang Z., Zhou Z., Lin Z., Wu L., Yan Z., Mao X., Li Q., He L., Wang L.,
RA Sang Q.;
RT "Homozygous mutations in REC114 cause female infertility characterised by
RT multiple pronuclei formation and early embryonic arrest.";
RL J. Med. Genet. 57:187-194(2020).
CC -!- FUNCTION: Required for DNA double-strand breaks (DSBs) formation in
CC unsynapsed regions during meiotic recombination. Probably acts by
CC forming a complex with IHO1 and REC114, which activates DSBs formation
CC in unsynapsed regions, an essential step to ensure completion of
CC synapsis. {ECO:0000250|UniProtKB:Q8BRM6}.
CC -!- SUBUNIT: Interacts with REC114 (PubMed:31704776). Part of the MCD
CC recombinosome complex, at least composed of IHO1, REC114 and MEI4.
CC {ECO:0000250|UniProtKB:Q8BRM6, ECO:0000269|PubMed:31704776}.
CC -!- INTERACTION:
CC A8MW99; Q63HM1: AFMID; NbExp=3; IntAct=EBI-19944212, EBI-13286382;
CC A8MW99; O95429: BAG4; NbExp=3; IntAct=EBI-19944212, EBI-2949658;
CC A8MW99; Q9UFG5: C19orf25; NbExp=3; IntAct=EBI-19944212, EBI-741214;
CC A8MW99; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-19944212, EBI-8643161;
CC A8MW99; Q9NP86: CABP5; NbExp=3; IntAct=EBI-19944212, EBI-10311131;
CC A8MW99; P55273: CDKN2D; NbExp=3; IntAct=EBI-19944212, EBI-745859;
CC A8MW99; Q13111: CHAF1A; NbExp=3; IntAct=EBI-19944212, EBI-1020839;
CC A8MW99; Q96FN4: CPNE2; NbExp=3; IntAct=EBI-19944212, EBI-7097057;
CC A8MW99; Q9H4G1: CST9L; NbExp=3; IntAct=EBI-19944212, EBI-3923092;
CC A8MW99; Q8WZ74: CTTNBP2; NbExp=3; IntAct=EBI-19944212, EBI-1774260;
CC A8MW99; P04053: DNTT; NbExp=3; IntAct=EBI-19944212, EBI-1220259;
CC A8MW99; P63241: EIF5A; NbExp=3; IntAct=EBI-19944212, EBI-373150;
CC A8MW99; O75344: FKBP6; NbExp=3; IntAct=EBI-19944212, EBI-744771;
CC A8MW99; P62993: GRB2; NbExp=3; IntAct=EBI-19944212, EBI-401755;
CC A8MW99; Q9H2F3: HSD3B7; NbExp=3; IntAct=EBI-19944212, EBI-3918847;
CC A8MW99; P46940: IQGAP1; NbExp=3; IntAct=EBI-19944212, EBI-297509;
CC A8MW99; Q8TCE9: LGALS14; NbExp=3; IntAct=EBI-19944212, EBI-10274069;
CC A8MW99; Q8N5G2: MACO1; NbExp=3; IntAct=EBI-19944212, EBI-2683507;
CC A8MW99; Q8WXB1: METTL21A; NbExp=3; IntAct=EBI-19944212, EBI-8652459;
CC A8MW99; Q9UH92-3: MLX; NbExp=3; IntAct=EBI-19944212, EBI-8852072;
CC A8MW99; Q96QG7: MTMR9; NbExp=3; IntAct=EBI-19944212, EBI-744593;
CC A8MW99; Q9ULV0-2: MYO5B; NbExp=3; IntAct=EBI-19944212, EBI-14093244;
CC A8MW99; Q9NPG2: NGB; NbExp=3; IntAct=EBI-19944212, EBI-10311409;
CC A8MW99; Q9Y5B8: NME7; NbExp=3; IntAct=EBI-19944212, EBI-744782;
CC A8MW99; Q9UJX0: OSGIN1; NbExp=3; IntAct=EBI-19944212, EBI-9057006;
CC A8MW99; Q15102: PAFAH1B3; NbExp=3; IntAct=EBI-19944212, EBI-711522;
CC A8MW99; Q96FC7: PHYHIPL; NbExp=3; IntAct=EBI-19944212, EBI-748888;
CC A8MW99; Q9H4M7-2: PLEKHA4; NbExp=3; IntAct=EBI-19944212, EBI-12394782;
CC A8MW99; O15160: POLR1C; NbExp=3; IntAct=EBI-19944212, EBI-1055079;
CC A8MW99; Q9Y2K5: R3HDM2; NbExp=3; IntAct=EBI-19944212, EBI-948428;
CC A8MW99; Q9UL33-2: TRAPPC2L; NbExp=3; IntAct=EBI-19944212, EBI-11119202;
CC A8MW99; Q8IWR1: TRIM59; NbExp=3; IntAct=EBI-19944212, EBI-10262539;
CC A8MW99; Q8WW01: TSEN15; NbExp=3; IntAct=EBI-19944212, EBI-372432;
CC A8MW99; Q96PN8: TSSK3; NbExp=3; IntAct=EBI-19944212, EBI-3918381;
CC A8MW99; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-19944212, EBI-739895;
CC A8MW99; O14972: VPS26C; NbExp=3; IntAct=EBI-19944212, EBI-7207091;
CC -!- SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:Q8BRM6}.
CC Note=Specifically localizes to unsynapsed chromosomal regions during
CC meiosis. Located in discrete foci on the axes of meiotic chromosomes.
CC The number of foci is highest at leptonema, decreases at zygonema and
CC is strongly reduced in pachynema and subsequent stages.
CC {ECO:0000250|UniProtKB:Q8BRM6}.
CC -!- SIMILARITY: Belongs to the MEI4L family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AL590785; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL591500; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS64463.1; -.
DR RefSeq; NP_001269065.1; NM_001282136.2.
DR RefSeq; NP_001309176.1; NM_001322247.1.
DR AlphaFoldDB; A8MW99; -.
DR SMR; A8MW99; -.
DR BioGRID; 3192470; 39.
DR IntAct; A8MW99; 37.
DR STRING; 9606.ENSP00000473370; -.
DR PhosphoSitePlus; A8MW99; -.
DR BioMuta; MEI4; -.
DR MassIVE; A8MW99; -.
DR PeptideAtlas; A8MW99; -.
DR PRIDE; A8MW99; -.
DR ProteomicsDB; 2233; -.
DR Antibodypedia; 77185; 25 antibodies from 5 providers.
DR DNASU; 101928601; -.
DR Ensembl; ENST00000602452.3; ENSP00000473370.1; ENSG00000269964.4.
DR Ensembl; ENST00000649759.1; ENSP00000496917.1; ENSG00000269964.4.
DR Ensembl; ENST00000684080.1; ENSP00000507827.1; ENSG00000269964.4.
DR GeneID; 101928601; -.
DR KEGG; hsa:101928601; -.
DR MANE-Select; ENST00000684080.1; ENSP00000507827.1; NM_001322247.2; NP_001309176.1.
DR UCSC; uc032xbm.2; human.
DR CTD; 101928601; -.
DR DisGeNET; 101928601; -.
DR GeneCards; MEI4; -.
DR HGNC; HGNC:43638; MEI4.
DR HPA; ENSG00000269964; Tissue enhanced (kidney, testis, thyroid gland).
DR MIM; 618417; gene.
DR neXtProt; NX_A8MW99; -.
DR OpenTargets; ENSG00000269964; -.
DR VEuPathDB; HostDB:ENSG00000269964; -.
DR eggNOG; ENOG502S31K; Eukaryota.
DR GeneTree; ENSGT00390000013856; -.
DR HOGENOM; CLU_055456_0_0_1; -.
DR InParanoid; A8MW99; -.
DR OMA; GNNHINR; -.
DR OrthoDB; 1116097at2759; -.
DR PhylomeDB; A8MW99; -.
DR PathwayCommons; A8MW99; -.
DR SignaLink; A8MW99; -.
DR BioGRID-ORCS; 101928601; 6 hits in 848 CRISPR screens.
DR ChiTaRS; MEI4; human.
DR Pharos; A8MW99; Tdark.
DR PRO; PR:A8MW99; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; A8MW99; protein.
DR Bgee; ENSG00000269964; Expressed in islet of Langerhans and 43 other tissues.
DR GO; GO:0000800; C:lateral element; ISS:UniProtKB.
DR GO; GO:0006310; P:DNA recombination; IEA:UniProtKB-KW.
DR GO; GO:0007129; P:homologous chromosome pairing at meiosis; ISS:UniProtKB.
DR GO; GO:0042138; P:meiotic DNA double-strand break formation; ISS:UniProtKB.
DR GO; GO:0048477; P:oogenesis; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR InterPro; IPR025888; MEI4.
DR PANTHER; PTHR28575; PTHR28575; 1.
DR Pfam; PF13971; Mei4; 1.
PE 1: Evidence at protein level;
KW Chromosome; DNA recombination; Meiosis; Reference proteome.
FT CHAIN 1..385
FT /note="Meiosis-specific protein MEI4"
FT /id="PRO_0000343703"
FT REGION 86..110
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 385 AA; 44024 MW; 6382F47788A77702 CRC64;
MDVQKWYLRT SKLALALAII RSKPADKSSR EYTEHLAMLL SEEQSKWRSK VEILEAEVMQ
LRQKLLVSRL CSGSFKSGYV SSQLEAQEPK SSESTLTSME DSGCDLSNEQ RTESSDLSQH
FVESCTPTHF PPLPLVKRPC AILQNPLSSH MQFLQYLLEL KNLTESGNLK RDLTHFEKDS
STVSDSVFQL LDGLITFYRN PKLPFSRFWT EAVGTLASLI SDYNLSSHIL KKCSKKLEEF
EKTLLHAILG NNHINQFQVQ HYVSQSLVTL GNCSLLRKSI ISLLLSEVNG FADDLGAINQ
EQASYDVSRY ENIFYLFWVL EQLLQKETEE GNTSSIGHDD QEIKKFLQKH DETIFQLSDA
FPLFTFYLWR VGILLSSAQI ETLRK
