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

Gene ID: 283677, updated on 2-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (73443164..73560013)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (71260317..71377167)
RS_2024_09 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 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. A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia. Xu S, et al. Clin Genet, 2024 Apr. PMID 38148155
  2. 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
  3. 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
  4. 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
  5. 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

See all (8) 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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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)

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_2024_08

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

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