REC114 (REC114 meiotic recombination protein)

Gene Basic Information

Gene Basic Information

symbol:
REC114
locus group:
protein-coding gene
location:
15q24.1
gene_family:
alias symbol:
LOC283677|FLJ27520|FLJ36860|FLJ44083|CT147
alias name:
None
entrez id:
283677
ensembl gene id:
ENSG00000183324
ucsc gene id:
None
refseq accession:
NM_001042367
hgnc_id:
HGNC:25065
approved reserved:
2008-07-25

Chromosome Location

Chromosome Location

15q24.1

Gene Summary

Gene Summary

REC114 是减数分裂重组过程中一个关键的基因，主要参与减数分裂前期同源染色体配对和DNA双链断裂（DSB）的形成，这些断裂是遗传重组的基础。REC114编码的蛋白质在减数分裂早期与MEI4和IHO1等蛋白形成复合物，共同调控DSB的形成位置和频率。该基因在生殖细胞中特异性表达，尤其在精母细胞和卵母细胞中活性较高。REC114属于减数分裂特异性基因家族，该家族的成员通常具有减数分裂阶段特异性表达模式，并在染色体配对、重组和分离中发挥核心作用。REC114的功能异常会导致减数分裂缺陷，如DSB形成减少或位置异常，进而引发同源染色体错误分离、非整倍体配子形成和不育。研究表明，REC114突变与人类非梗阻性无精症和女性卵巢早衰等生殖障碍相关。REC114过表达可能导致DSB数量异常增加，引发基因组不稳定和染色体结构异常；而表达降低则会导致重组频率下降，影响遗传多样性和配子质量。REC114与PRDM9协同作用决定DSB热点位置，其表达水平变化可能改变重组景观。该基因在进化上高度保守，从酵母到人类均存在同源基因，表明其在减数分裂中的核心功能在物种间具有普遍性。REC114相关研究为理解不育症机制和开发生殖医学干预策略提供了重要线索。

ChineseEnglish

None

OMIM entry for REC114     Wikipedia entry for REC114

Gene Sequence

Gene Sequence

Nucleotide sequence of REC114:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MAEAGKVPLS LGLTGGEAAE WPLQRYARCI PSNTRDPPGP
41CLEAGTAPCP TWKVFDSNEE SGYLVLTIVI SGHFFIFQGQ
81 TLLEGFSLI GSKDWLKIVR RVDCLLFGTT IKDKSRLFRV
121QFSGESKEQA LEHCCSCVQK LAQYITVQVP DGNIQELQLI
161P GPPRATES QGKDSAKSVP RQPGSHQHSE QQQVCVTAGT
201GAPDGRTSLT QLAQTLLASE ELPHVYEQSA WGAEELGPFL
241RL CLMDQNF PAFVEEVEKE LKKLAGLRN
结构预测来自 AlphaFold DB（UniProt: Q7Z4M0），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of REC114:           Showing partial SNPs
rs1043555       rs1043574       rs1043586       rs1043589       rs79100571       rs79810075       rs114384155       rs115349578       rs117740286       rs141729178       rs181993088       rs184413229       rs185604985       rs188806655       rs189356212       rs199957073       rs200406801      

Gene Expression

Gene Expression

Tissue expression of REC114:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
ACACTACTGGACAAGAGTCG
59
CTGAACACAACTGCAGCAG
60
GAATCTGGATATCTTGTTCTCACC
59
AAACCCTTCCAGTAGTGTCTG
60
TCAGAACAACAGCAAGTGTG
59
ATGCCAGAAGAGTCTGAGC
60
ACTCAGAACAACAGCAAGTG
59
CAGAAGAGTCTGAGCTAACTG
58
ACAGACACTACTGGAAGGG
58
AACAACAGACAATCCACGC
59
GAATCTGGATATCTTGTTCTCACC
59
ACTCTTGTCCAGTAGTGTCTG
59
CAGAACAACAGCAAGTGTG
58
CAGAAGAGTCTGAGCTAACTG
58
ATCTGGATATCTTGTTCTCACC
58
CGACTCTTGTCCAGTAGTG
57
CATTGGTAGCAAGGACTGG
58
CGACTCTTGTCCTTTATCGT
58

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of REC114 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for REC114:

GO ID
Protein
Source DB
GO:0006310
Q7Z4M0 (UniProtKB)
IEA
GO:0051321
Q7Z4M0 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating REC114:     

Gene Interactions

Gene Interactions

String
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source

Related Publications

Related Publications

Recruitment of Mre11 to recombination sites during meiosis.
Priyadarshini P, Survi M, El Yazidi Mouloud W, Bohn R, Ballet S, Hunter N, Volkov AN, Claeys Bouuaert C Nat Commun IF: 12.124 2026-04-07
Genetic Mutations and Non-Genomic Dysregulation in Human Preimplantation Embryo Arrest.
Jiang J, Peng J, Li L, Xu M Int J Mol Sci IF: 3.226 2026-02-25
A common cause of non-obstructive azoospermia: biallelic MEI1 variants and implications for infertility diagnostics.
Tan C, Wang T, Tu C, Xie C, Chen Z, Yuan S, Hu T, He W, Li Y, Wang Y, Luo C, Zhang Q, Nie H, Zhang H, Lu G, Lin G, Tan YQ, Meng L, Du J J Assist Reprod Genet IF: 2.8 2026-04-00
Meiotic gene variants contribute to recurrent blastulation failure.
Chen X, Leng L, He W, Li W, Li L, Zhang X, Xu X, Dai J, Gu Y, Xie P, Meng F, Hu H, Jin M, Ma S, Gong F, Lu G, Liu G, Tan Y, Lin G, Zheng W Hum Reprod Open None
Recruitment of Mre11 to recombination sites during meiosis.
Priyadarshini P, Survi M, Yazidi Mouloud WE, Bohn R, Ballet S, Hunter N, Volkov AN, Bouuaert CC bioRxiv 2025-07-08
Genetic variants in diminished ovarian reserve and premature ovarian insufficiency: implications for assisted reproductive outcomes.
Xu Q, Ding H, Liu Y, Han D, Xia X, Li Y, Sha X, Li G, Ni X, Li K, Hua R, He X, Wu H, Cao Y, Xu Y J Assist Reprod Genet IF: 2.8 2025-11-00
Recruitment of Mre11 to recombination sites during meiosis.
Bouuaert CC, Priyadarshini P, Survi M, Mouloud WEY, Bohn R, Ballet S, Hunter N, Volkov A Res Sq 2025-08-19
Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.
Ma Li, O'Connell Jeffrey R, VanRaden Paul M, Shen Botong, Padhi Abinash, Sun Chuanyu, Bickhart Derek M, Cole John B, Null Daniel J, Liu George E, Da Yang, Wiggans George R PLoS Genet IF: 0.000 2016-06-03
Budding yeast ATM/ATR control meiotic double-strand break (DSB) levels by down-regulating Rec114, an essential component of the DSB-machinery.
Carballo Jesús A, Panizza Silvia, Serrentino Maria Elisabetta, Johnson Anthony L, Geymonat Marco, Borde Valérie, Klein Franz, Cha Rita S PLoS Genet IF: 0.000 2013-09-10

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