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Protein

Meiotic recombination protein REC114

Gene

REC114

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with IHO1/CCDC36 and MEI4, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis.By similarity

GO - Biological processi

Keywordsi

Biological processDNA recombination, Meiosis

Names & Taxonomyi

Protein namesi
Recommended name:
Meiotic recombination protein REC114
Gene namesi
Name:REC114
Synonyms:C15orf60
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000183324.10
HGNCiHGNC:25065 REC114
neXtProtiNX_Q7Z4M0

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000183324
PharmGKBiPA162378269

Polymorphism and mutation databases

BioMutaiC15orf60
DMDMi190358937

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003215181 – 266Meiotic recombination protein REC114Add BLAST266

Proteomic databases

PaxDbiQ7Z4M0
PeptideAtlasiQ7Z4M0
PRIDEiQ7Z4M0
ProteomicsDBi69211

PTM databases

iPTMnetiQ7Z4M0
PhosphoSitePlusiQ7Z4M0

Expressioni

Gene expression databases

BgeeiENSG00000183324
CleanExiHS_C15orf60
ExpressionAtlasiQ7Z4M0 baseline and differential
GenevisibleiQ7Z4M0 HS

Interactioni

Subunit structurei

Interacts with MEI4. Interacts with IHO1/CCDC36. Part of the MCD recombinosome complex, at least composed of IHO1/CCDC36, REC114 and MEI4.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000328423

Structurei

3D structure databases

ProteinModelPortaliQ7Z4M0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the REC114 family.Curated

Phylogenomic databases

eggNOGiENOG410IWHF Eukaryota
ENOG4112AEH LUCA
GeneTreeiENSGT00390000007235
HOGENOMiHOG000111861
HOVERGENiHBG107740
InParanoidiQ7Z4M0
OMAiYEQSAWG
OrthoDBiEOG091G0OVA
PhylomeDBiQ7Z4M0
TreeFamiTF332765

Family and domain databases

InterProiView protein in InterPro
IPR029168 REC114L
PANTHERiPTHR34921 PTHR34921, 1 hit
PfamiView protein in Pfam
PF15165 REC114-like, 1 hit

Sequencei

Sequence statusi: Complete.

Q7Z4M0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAEAGKVPLS LGLTGGEAAE WPLQRYARCI PSNTRDPPGP CLEAGTAPCP
60 70 80 90 100
TWKVFDSNEE SGYLVLTIVI SGHFFIFQGQ TLLEGFSLIG SKDWLKIVRR
110 120 130 140 150
VDCLLFGTTI KDKSRLFRVQ FSGESKEQAL EHCCSCVQKL AQYITVQVPD
160 170 180 190 200
GNIQELQLIP GPPRATESQG KDSAKSVPRQ PGSHQHSEQQ QVCVTAGTGA
210 220 230 240 250
PDGRTSLTQL AQTLLASEEL PHVYEQSAWG AEELGPFLRL CLMDQNFPAF
260
VEEVEKELKK LAGLRN
Length:266
Mass (Da):29,155
Last modified:February 26, 2008 - v2
Checksum:iCCF8C194201A5AA1
GO

Sequence cautioni

The sequence AAH55412 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050893148V → M. Corresponds to variant dbSNP:rs12102004Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC009660 Genomic DNA No translation available.
AC022735 Genomic DNA No translation available.
BC055412 mRNA Translation: AAH55412.1 Different initiation.
CCDSiCCDS45296.1
RefSeqiNP_001035826.1, NM_001042367.1
UniGeneiHs.743574

Genome annotation databases

EnsembliENST00000331090; ENSP00000328423; ENSG00000183324
GeneIDi283677
KEGGihsa:283677
UCSCiuc002avq.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRE114_HUMAN
AccessioniPrimary (citable) accession number: Q7Z4M0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: June 20, 2018
This is version 90 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

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