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

Gene ID: 283677, updated on 1-Aug-2020

Summary

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
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; 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

Genomic context

See REC114 in Genome Data Viewer
Location:
15q24.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (73443164..73560013)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (73735499..73852354)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370890 Neighboring gene hyperpolarization activated cyclic nucleotide gated potassium channel 4 Neighboring gene VISTA enhancer hs2161 Neighboring gene mitochondrial ribosomal protein S15 pseudogene 1 Neighboring gene NPTN intronic transcript 1 Neighboring gene neuroplastin Neighboring gene uncharacterized LOC105370891

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Clone Names

  • FLJ27520, FLJ36860, FLJ44083

Gene Ontology Provided by GOA

Process Evidence Code Pubs
DNA recombination IEA
Inferred from Electronic Annotation
more info
 
meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001042367.2NP_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:21261
    REC114-like; Meiotic recombination protein REC114-like
  2. NM_001348772.2NP_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:21233
    REC114-like; Meiotic recombination protein REC114-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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