Rec8 REC8 meiotic recombination protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rec8provided by MGI
Official Full Name: REC8 meiotic recombination proteinprovided by MGI
Primary source: MGI:MGI:1929645
See related: Ensembl:ENSMUSG00000002324 AllianceGenome:MGI:1929645
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mrec; Rec8L1
Summary: Predicted to enable chromatin binding activity. Acts upstream of or within several processes, including gamete generation; seminiferous tubule development; and synaptonemal complex assembly. Located in kinetochore; lateral element; and male germ cell nucleus. Part of nuclear meiotic cohesin complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Orthologous to human REC8 (REC8 meiotic recombination protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis adult (RPKM 25.9), duodenum adult (RPKM 18.4) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 C3; 14 28.19 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (55855459..55862852)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (55618002..55625395)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

alpha-Kleisin subunit of cohesin preserves the genome integrity of embryonic stem cells.
Title: α-Kleisin subunit of cohesin preserves the genome integrity of embryonic stem cells.
MicroRNA-202 safeguards meiotic progression by preventing premature SEPARASE-mediated REC8 cleavage.
Title: MicroRNA-202 safeguards meiotic progression by preventing premature SEPARASE-mediated REC8 cleavage.
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
Title: Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
EWSR1 affects PRDM9-dependent histone 3 methylation and provides a link between recombination hotspots and the chromosome axis protein REC8.
Title: EWSR1 affects PRDM9-dependent histone 3 methylation and provides a link between recombination hotspots and the chromosome axis protein REC8.
Our genetic analysis demonstrates that cohesins containing STAG3 and REC8 are the main complex required for centromeric cohesion, and RAD21L cohesins are required for normal clustering of pericentromeric heterochromatin. Furthermore, the STAG3/REC8 and STAG3/RAD21L cohesins are the primary cohesins required for axis formation.
Title: Genetic Interactions Between the Meiosis-Specific Cohesin Components, STAG3, REC8, and RAD21L.
REC8-containing cohesin complexes provide canonical SCC, not RAD21 or RAD21L, at the prophase stage of meiosis I in spermatocytes.
Title: High density of REC8 constrains sister chromatid axes and prevents illegitimate synaptonemal complex formation.
To decipher the functions of the two meiosis-specific kleisins, REC8 or RAD21L, together with the only meiosis-specific SMC protein SMC1b, we generated Smc1b-/-Rec8-/- and Smc1b-/-Rad21L-/- mouse mutants.
Title: Distinct Roles of Meiosis-Specific Cohesin Complexes in Mammalian Spermatogenesis.
Rec8 establishes cohesion when activated during DNA replication in fetal oocytes using tamoxifen-inducible Cre. In contrast, no new cohesion is detected when Rec8 is activated in arrested oocytes by tamoxifen despite cohesin synthesis.
Title: Chromosome Cohesion Established by Rec8-Cohesin in Fetal Oocytes Is Maintained without Detectable Turnover in Oocytes Arrested for Months in Mice.
Plk1 activity is required for meiotic spindle assembly and REC8 cleavage, with pPlk1Ser137 being the action executor, in mouse oocytes during meiotic division.
Title: Unique subcellular distribution of phosphorylated Plk1 (Ser137 and Thr210) in mouse oocytes during meiotic division and pPlk1(Ser137) involvement in spindle formation and REC8 cleavage.
effects ofAte1ablation are inferred to be caused, at least in part, by the failure to destroy the C-terminal fragment of Rec8 in the absence of N-terminal arginylation.
Title: Degradation of the Separase-cleaved Rec8, a Meiotic Cohesin Subunit, by the N-end Rule Pathway.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (other) (1) 1 citation
Endonuclease-mediated (2) 1 citation
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Rec8 (e-PCR), detects polymorphism
- UniSTS:525718

AW546880 (e-PCR)
- UniSTS:180665

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within chromosome segregation	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within double-strand break repair via homologous recombination	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homologous chromosome pairing at meiosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male meiosis I	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within meiotic cell cycle	IPI Inferred from Physical Interaction more info	PubMed
involved_in meiotic sister chromatid cohesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within oocyte maturation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within oocyte maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within seminiferous tubule development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in sister chromatid cohesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within synaptonemal complex assembly	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
part_of cohesin complex	IEA Inferred from Electronic Annotation more info
located_in condensed chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in condensed chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in condensed nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in lateral element	IDA Inferred from Direct Assay more info	PubMed
located_in male germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of meiotic cohesin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of meiotic cohesin complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in synaptonemal complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: meiotic recombination protein REC8 homolog

Names: REC8-like 1; cohesin Rec8p; meiotic cohesion Rec8

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)

NM_001360389.1 → NP_001347318.1 meiotic recombination protein REC8 homolog isoform 2

Status: VALIDATED

Source sequence(s)

AC174678, BC052155

Conserved Domains (1) summary

pfam04824
Location:427 → 481

Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
NM_001360390.1 → NP_001347319.1 meiotic recombination protein REC8 homolog isoform 3

Status: VALIDATED

Source sequence(s)

AC174678, BC052155

Conserved Domains (1) summary

pfam04824
Location:331 → 385

Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
NM_020002.3 → NP_064386.2 meiotic recombination protein REC8 homolog isoform 1

See identical proteins and their annotated locations for NP_064386.2

Status: VALIDATED

Source sequence(s)

AC174678, AU080225, BC052155

Consensus CDS

CCDS27120.1

UniProtKB/Swiss-Prot

Q3UIN9, Q8C5S7, Q9JK52

Related

ENSMUSP00000002395.8, ENSMUST00000002395.8

Conserved Domains (2) summary

pfam04824
Location:536 → 590

Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein

pfam04825
Location:1 → 112

Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein