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    REC114 REC114 meiotic recombination protein [ Homo sapiens (human) ]

    Gene ID: 283677, updated on 2-May-2024

    Summary

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    Official Symbol
    REC114provided by HGNC
    Official Full Name
    REC114 meiotic recombination proteinprovided by HGNC
    Primary source
    HGNC:HGNC:25065
    See related
    Ensembl:ENSG00000183324 MIM:618421; AllianceGenome:HGNC:25065
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT147; OOMD10; OZEMA10; C15orf60
    Summary
    The protein encoded by this gene is orthologous to the mouse meiotic recombination protein REC114, which is involved in DNA double-strand break formation during meiosis. The encoded protein is conserved in most eukaryotes and was first discovered and characterized in yeast. [provided by RefSeq, Feb 2017]
    Expression
    Restricted expression toward testis (RPKM 17.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See REC114 in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (73443164..73560013)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (71260317..71377167)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (73735505..73852354)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370890 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:73635762-73636961 Neighboring gene MPRA-validated peak2386 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:73644210-73644710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:73644711-73645211 Neighboring gene hyperpolarization activated cyclic nucleotide gated potassium channel 4 Neighboring gene Sharpr-MPRA regulatory region 342 Neighboring gene VISTA enhancer hs2161 Neighboring gene serine-aspartate repeat-containing protein I-like Neighboring gene mitochondrial ribosomal protein S15 pseudogene 1 Neighboring gene NPTN intronic transcript 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:73879798-73879963 Neighboring gene neuroplastin Neighboring gene NANOG hESC enhancer GRCh37_chr15:73909554-73910143 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:73910157-73910718 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6634 Neighboring gene uncharacterized LOC105370891

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest. Wang W, et al. J Med Genet, 2020 Mar. PMID 31704776
    2. Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens-Johnson syndrome with severe ocular complications. Ueta M, et al. J Hum Genet, 2017 Apr. PMID 28100913
    3. Functional conservation of Mei4 for meiotic DNA double-strand break formation from yeasts to mice. Kumar R, et al. Genes Dev, 2010 Jun 15. PMID 20551173, Free PMC Article
    4. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. Lauc G, et al. PLoS Genet, 2013. PMID 23382691, Free PMC Article
    5. Multiplexed kinase interactome profiling quantifies cellular network activity and plasticity. Golkowski M, et al. Mol Cell, 2023 Mar 2. PMID 36736316, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia.
      Title: A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia.
    2. Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest.
      Title: Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest.
    3. In Japanese individuals, combined genotyping for the associated variants thus far identified; that is, HLA-A*02:06, TLR3 rs3775296 T/T and Rec114 rs16957893 CG, may help to predict the risk for cold medicine-related Stevens-Johnson syndrome /TEN with severe ocular complications
      Title: Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens-Johnson syndrome with severe ocular complications.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Oocyte maturation defect 10
    MedGen: C5436938 OMIM: 619176 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ27520, FLJ36860, FLJ44083

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in meiotic DNA double-strand break formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in oogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    meiotic recombination protein REC114
    Names
    meiotic recombination protein REC114-like

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001042367.2 → NP_001035826.1  meiotic recombination protein REC114 isoform 1

      See identical proteins and their annotated locations for NP_001035826.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC055412, BX113903, DB465854
      Consensus CDS
      CCDS45296.1
      UniProtKB/Swiss-Prot
      Q7Z4M0
      Related
      ENSP00000328423.6, ENST00000331090.11
      Conserved Domains (1) summary
      pfam15165
      Location:21 → 261
      REC114-like; Meiotic recombination protein REC114-like

    2. NM_001348772.2 → NP_001335701.1  meiotic recombination protein REC114 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK131030, BX113903
      Consensus CDS
      CCDS86474.1
      UniProtKB/TrEMBL
      H0YKR2
      Related
      ENSP00000452908.1, ENST00000560581.1
      Conserved Domains (1) summary
      pfam15165
      Location:21 → 233
      REC114-like; Meiotic recombination protein REC114-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      73443164..73560013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      71260317..71377167
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z4M0.2 GenPept UniProtKB/Swiss-Prot:Q7Z4M0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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