RE114_HUMAN
ID RE114_HUMAN Reviewed; 266 AA.
AC Q7Z4M0;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=Meiotic recombination protein REC114;
GN Name=REC114; Synonyms=C15orf60;
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=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 INVOLVEMENT IN OOMD10, VARIANT OOMD10 GLY-133, CHARACTERIZATION OF VARIANT
RP OOMD10 GLY-133, AND INTERACTION WITH IHO1 AND MEI4.
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 MEI4, which activates DSBs formation in
CC unsynapsed regions, an essential step to ensure completion of synapsis.
CC {ECO:0000250|UniProtKB:Q9CWH4}.
CC -!- SUBUNIT: Interacts with MEI4 (PubMed:31704776). Interacts with IHO1
CC (PubMed:31704776). Part of the MCD recombinosome complex, at least
CC composed of IHO1, REC114 and MEI4. Interacts with ANKRD31; the
CC interaction is direct. {ECO:0000250|UniProtKB:Q9CWH4,
CC ECO:0000269|PubMed:31704776}.
CC -!- DISEASE: Oocyte maturation defect 10 (OOMD10) [MIM:619176]: An
CC autosomal recessive infertility disorder due to abnormal fertilization
CC of mature oocytes, with development of multiple pronuclei or absent
CC pronucleus, and early embryonic arrest. {ECO:0000269|PubMed:31704776}.
CC Note=The gene represented in this entry is involved in disease
CC pathogenesis.
CC -!- SIMILARITY: Belongs to the REC114 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH55412.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC009660; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC022735; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC055412; AAH55412.1; ALT_INIT; mRNA.
DR CCDS; CCDS45296.1; -.
DR RefSeq; NP_001035826.1; NM_001042367.1.
DR AlphaFoldDB; Q7Z4M0; -.
DR SMR; Q7Z4M0; -.
DR IntAct; Q7Z4M0; 1.
DR STRING; 9606.ENSP00000328423; -.
DR iPTMnet; Q7Z4M0; -.
DR PhosphoSitePlus; Q7Z4M0; -.
DR BioMuta; REC114; -.
DR DMDM; 190358937; -.
DR MassIVE; Q7Z4M0; -.
DR PaxDb; Q7Z4M0; -.
DR PeptideAtlas; Q7Z4M0; -.
DR PRIDE; Q7Z4M0; -.
DR ProteomicsDB; 69211; -.
DR DNASU; 283677; -.
DR Ensembl; ENST00000331090.11; ENSP00000328423.6; ENSG00000183324.11.
DR GeneID; 283677; -.
DR KEGG; hsa:283677; -.
DR MANE-Select; ENST00000331090.11; ENSP00000328423.6; NM_001042367.2; NP_001035826.1.
DR UCSC; uc002avq.4; human.
DR CTD; 283677; -.
DR DisGeNET; 283677; -.
DR GeneCards; REC114; -.
DR HGNC; HGNC:25065; REC114.
DR HPA; ENSG00000183324; Tissue enriched (testis).
DR MalaCards; REC114; -.
DR MIM; 618421; gene.
DR MIM; 619176; phenotype.
DR neXtProt; NX_Q7Z4M0; -.
DR OpenTargets; ENSG00000183324; -.
DR PharmGKB; PA162378269; -.
DR VEuPathDB; HostDB:ENSG00000183324; -.
DR eggNOG; ENOG502S157; Eukaryota.
DR GeneTree; ENSGT00390000007235; -.
DR HOGENOM; CLU_101822_0_0_1; -.
DR InParanoid; Q7Z4M0; -.
DR OMA; GHFFISH; -.
DR OrthoDB; 1491802at2759; -.
DR PhylomeDB; Q7Z4M0; -.
DR TreeFam; TF332765; -.
DR PathwayCommons; Q7Z4M0; -.
DR SignaLink; Q7Z4M0; -.
DR BioGRID-ORCS; 283677; 4 hits in 1063 CRISPR screens.
DR ChiTaRS; REC114; human.
DR GenomeRNAi; 283677; -.
DR Pharos; Q7Z4M0; Tdark.
DR PRO; PR:Q7Z4M0; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q7Z4M0; protein.
DR Bgee; ENSG00000183324; Expressed in oocyte and 78 other tissues.
DR ExpressionAtlas; Q7Z4M0; baseline and differential.
DR Genevisible; Q7Z4M0; HS.
DR GO; GO:0006310; P:DNA recombination; IEA:UniProtKB-KW.
DR GO; GO:0051321; P:meiotic cell cycle; IEA:UniProtKB-KW.
DR InterPro; IPR029168; REC114L.
DR PANTHER; PTHR34921; PTHR34921; 1.
DR Pfam; PF15165; REC114-like; 1.
PE 1: Evidence at protein level;
KW Disease variant; DNA recombination; Meiosis; Reference proteome.
FT CHAIN 1..266
FT /note="Meiotic recombination protein REC114"
FT /id="PRO_0000321518"
FT REGION 157..190
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 169..190
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 133
FT /note="C -> G (in OOMD10; unknown pathological
FT significance; decreases protein level; does not affect
FT interaction with MEI4 and IHO1; decreases MEI4 stability)"
FT /evidence="ECO:0000269|PubMed:31704776"
FT /id="VAR_085251"
FT VARIANT 148
FT /note="V -> M (in dbSNP:rs12102004)"
FT /id="VAR_050893"
SQ SEQUENCE 266 AA; 29155 MW; CCF8C194201A5AA1 CRC64;
MAEAGKVPLS LGLTGGEAAE WPLQRYARCI PSNTRDPPGP CLEAGTAPCP TWKVFDSNEE
SGYLVLTIVI SGHFFIFQGQ TLLEGFSLIG SKDWLKIVRR VDCLLFGTTI KDKSRLFRVQ
FSGESKEQAL EHCCSCVQKL AQYITVQVPD GNIQELQLIP GPPRATESQG KDSAKSVPRQ
PGSHQHSEQQ QVCVTAGTGA PDGRTSLTQL AQTLLASEEL PHVYEQSAWG AEELGPFLRL
CLMDQNFPAF VEEVEKELKK LAGLRN
