MEIOB_HUMAN
ID MEIOB_HUMAN Reviewed; 442 AA.
AC Q8N635; B1AK39; C9J0S1; Q96RY0;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-MAY-2009, sequence version 3.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Meiosis-specific with OB domain-containing protein {ECO:0000305};
DE EC=3.1.-.-;
GN Name=MEIOB {ECO:0000312|HGNC:HGNC:28569}; Synonyms=C16orf73;
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=11157797; DOI=10.1093/hmg/10.4.339;
RA Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C.,
RA Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.;
RT "Sequence, structure and pathology of the fully annotated terminal 2 Mb of
RT the short arm of human chromosome 16.";
RL Hum. Mol. Genet. 10:339-352(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 95-442 (ISOFORM 1).
RC TISSUE=Brain;
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 [4]
RP TISSUE SPECIFICITY.
RX PubMed=24068956; DOI=10.1371/journal.pgen.1003784;
RA Souquet B., Abby E., Herve R., Finsterbusch F., Tourpin S., Le Bouffant R.,
RA Duquenne C., Messiaen S., Martini E., Bernardino-Sgherri J., Toth A.,
RA Habert R., Livera G.;
RT "MEIOB targets single-strand DNA and is necessary for meiotic
RT recombination.";
RL PLoS Genet. 9:E1003784-E1003784(2013).
RN [5]
RP INVOLVEMENT IN SPGF22, VARIANT SPGF22 ILE-64, AND TISSUE SPECIFICITY.
RX PubMed=28206990; DOI=10.1038/gim.2016.225;
RA Gershoni M., Hauser R., Yogev L., Lehavi O., Azem F., Yavetz H.,
RA Pietrokovski S., Kleiman S.E.;
RT "A familial study of azoospermic men identifies three novel causative
RT mutations in three new human azoospermia genes.";
RL Genet. Med. 19:998-1006(2017).
CC -!- FUNCTION: Single-stranded DNA-binding protein required for homologous
CC recombination in meiosis I. Required for double strand breaks (DSBs)
CC repair and crossover formation and promotion of faithful and complete
CC synapsis. Not required for the initial loading of recombinases but
CC required to maintain a proper number of RAD51 and DMC1 foci after the
CC zygotene stage. May act by ensuring the stabilization of recombinases,
CC which is required for successful homology search and meiotic
CC recombination. Displays Single-stranded DNA 3'-5' exonuclease activity
CC in vitro. {ECO:0000250|UniProtKB:Q9D513}.
CC -!- SUBUNIT: Component of a multiprotein complex with RPA2 and SPATA22.
CC Interacts with the complex BRME1:HSF2BP:BRCA2.
CC {ECO:0000250|UniProtKB:Q9D513}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9D513}. Nucleus
CC {ECO:0000250|UniProtKB:Q9D513}. Chromosome
CC {ECO:0000250|UniProtKB:Q9D513}. Note=Co-localizes with the RPA complex
CC on meiotic chromosome axes. Accumulates on resected DNA. Localization
CC is dependent on SPATA22. {ECO:0000250|UniProtKB:Q9D513}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N635-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N635-2; Sequence=VSP_047664;
CC -!- TISSUE SPECIFICITY: In fetal gonads, specifically expressed in the
CC ovary starting at the 14th weeks post fertilization (PubMed:24068956).
CC In the adult, restricted to testis (PubMed:28206990).
CC {ECO:0000269|PubMed:24068956, ECO:0000269|PubMed:28206990}.
CC -!- DISEASE: Spermatogenic failure 22 (SPGF22) [MIM:617706]: An infertility
CC disorder caused by spermatogenesis defects that result in non-
CC obstructive azoospermia. {ECO:0000269|PubMed:28206990}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the MEIOB family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH29829.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAK61296.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AE006639; AAK61296.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL031722; CAM26474.1; -; Genomic_DNA.
DR EMBL; AL499628; CAM26474.1; JOINED; Genomic_DNA.
DR EMBL; AL499628; CAM28376.1; -; Genomic_DNA.
DR EMBL; AL031722; CAM28376.1; JOINED; Genomic_DNA.
DR EMBL; AL132823; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029829; AAH29829.1; ALT_INIT; mRNA.
DR CCDS; CCDS10449.2; -. [Q8N635-1]
DR CCDS; CCDS53983.1; -. [Q8N635-2]
DR RefSeq; NP_001157032.1; NM_001163560.2. [Q8N635-2]
DR RefSeq; NP_689977.2; NM_152764.2. [Q8N635-1]
DR AlphaFoldDB; Q8N635; -.
DR SMR; Q8N635; -.
DR BioGRID; 129038; 4.
DR IntAct; Q8N635; 1.
DR STRING; 9606.ENSP00000390778; -.
DR iPTMnet; Q8N635; -.
DR PhosphoSitePlus; Q8N635; -.
DR BioMuta; MEIOB; -.
DR DMDM; 229462984; -.
DR MassIVE; Q8N635; -.
DR PeptideAtlas; Q8N635; -.
DR PRIDE; Q8N635; -.
DR ProteomicsDB; 72128; -. [Q8N635-1]
DR ProteomicsDB; 7972; -.
DR Antibodypedia; 42506; 40 antibodies from 13 providers.
DR DNASU; 254528; -.
DR Ensembl; ENST00000325962.9; ENSP00000314484.3; ENSG00000162039.17. [Q8N635-2]
DR Ensembl; ENST00000397344.7; ENSP00000380504.3; ENSG00000162039.17. [Q8N635-1]
DR GeneID; 254528; -.
DR KEGG; hsa:254528; -.
DR MANE-Select; ENST00000325962.9; ENSP00000314484.3; NM_001163560.3; NP_001157032.1. [Q8N635-2]
DR UCSC; uc002cne.3; human. [Q8N635-1]
DR CTD; 254528; -.
DR DisGeNET; 254528; -.
DR GeneCards; MEIOB; -.
DR HGNC; HGNC:28569; MEIOB.
DR HPA; ENSG00000162039; Tissue enriched (testis).
DR MalaCards; MEIOB; -.
DR MIM; 617670; gene.
DR MIM; 617706; phenotype.
DR neXtProt; NX_Q8N635; -.
DR OpenTargets; ENSG00000162039; -.
DR Orphanet; 399805; Male infertility with azoospermia or oligozoospermia due to single gene mutation.
DR PharmGKB; PA145149601; -.
DR VEuPathDB; HostDB:ENSG00000162039; -.
DR eggNOG; KOG0851; Eukaryota.
DR GeneTree; ENSGT00390000001723; -.
DR HOGENOM; CLU_042457_2_0_1; -.
DR InParanoid; Q8N635; -.
DR OMA; SCTLIYE; -.
DR OrthoDB; 615895at2759; -.
DR PhylomeDB; Q8N635; -.
DR TreeFam; TF323670; -.
DR PathwayCommons; Q8N635; -.
DR SignaLink; Q8N635; -.
DR BioGRID-ORCS; 254528; 11 hits in 1080 CRISPR screens.
DR ChiTaRS; MEIOB; human.
DR GenomeRNAi; 254528; -.
DR Pharos; Q8N635; Tdark.
DR PRO; PR:Q8N635; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q8N635; protein.
DR Bgee; ENSG00000162039; Expressed in right testis and 98 other tissues.
DR ExpressionAtlas; Q8N635; baseline and differential.
DR Genevisible; Q8N635; HS.
DR GO; GO:0005694; C:chromosome; IEA:UniProtKB-SubCell.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003682; F:chromatin binding; ISS:UniProtKB.
DR GO; GO:0008310; F:single-stranded DNA 3'-5' exodeoxyribonuclease activity; ISS:UniProtKB.
DR GO; GO:0003697; F:single-stranded DNA binding; ISS:UniProtKB.
DR GO; GO:0000724; P:double-strand break repair via homologous recombination; ISS:UniProtKB.
DR GO; GO:0007144; P:female meiosis I; ISS:UniProtKB.
DR GO; GO:0009566; P:fertilization; ISS:UniProtKB.
DR GO; GO:0007129; P:homologous chromosome pairing at meiosis; ISS:UniProtKB.
DR GO; GO:0007140; P:male meiotic nuclear division; ISS:UniProtKB.
DR GO; GO:0000712; P:resolution of meiotic recombination intermediates; ISS:UniProtKB.
DR Gene3D; 2.40.50.140; -; 3.
DR InterPro; IPR012340; NA-bd_OB-fold.
DR SUPFAM; SSF50249; SSF50249; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Chromosome; Cytoplasm; DNA-binding; Exonuclease;
KW Hydrolase; Meiosis; Nuclease; Nucleus; Reference proteome.
FT CHAIN 1..442
FT /note="Meiosis-specific with OB domain-containing protein"
FT /id="PRO_0000337134"
FT DNA_BIND 167..272
FT /note="OB"
FT VAR_SEQ 406
FT /note="T -> TVHEFLAMTDEQKTALKWQFLLERSKIYLK (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_047664"
FT VARIANT 18
FT /note="T -> P (in dbSNP:rs1742446)"
FT /id="VAR_061619"
FT VARIANT 64
FT /note="N -> I (in SPGF22; dbSNP:rs1555472691)"
FT /evidence="ECO:0000269|PubMed:28206990"
FT /id="VAR_080034"
FT VARIANT 75
FT /note="K -> T (in dbSNP:rs1657125)"
FT /id="VAR_059624"
FT VARIANT 261
FT /note="I -> T (in dbSNP:rs9806945)"
FT /id="VAR_043620"
SQ SEQUENCE 442 AA; 49313 MW; 3418C8EB3672EE8F CRC64;
MANSFAARIF TTLSDLQTNM ANLKVIGIVI GKTDVKGFPD RKNIGSERYT FSFTIRDSPA
HFVNAASWGN EDYIKSLSDS FRVGDCVIIE NPLIQRKEIE REEKFSPATP SNCKLLLSEN
HSTVKVCSSY EVDTKLLSLI HLPVKESHDY YSLGDIVANG HSLNGRIINV LAAVKSVGEP
KYFTTSDRRK GQRCEVRLYD ETESSFAMTC WDNESILLAQ SWMPRETVIF ASDVRINFDK
FRNCMTATVI SKTIITTNPD IPEANILLNF IRENKETNVL DDEIDSYFKE SINLSTIVDV
YTVEQLKGKA LKNEGKADPS YGILYAYIST LNIDDETTKV VRNRCSSCGY IVNEASNMCT
TCNKNSLDFK SVFLSFHVLI DLTDHTGTLH SCSLTGSVAE ETLGCTFVLS HRARSGLKIS
VLSCKLADPT EASRNLSGQK HV
