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REC8 REC8 meiotic recombination protein [ Homo sapiens (human) ]

Gene ID: 9985, updated on 11-Apr-2024

Summary

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Official Symbol
REC8provided by HGNC
Official Full Name
REC8 meiotic recombination proteinprovided by HGNC
Primary source
HGNC:HGNC:16879
See related
Ensembl:ENSG00000100918 MIM:608193; AllianceGenome:HGNC:16879
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
Rec8p; REC8L1; HR21spB
Summary
This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in gall bladder (RPKM 12.4), testis (RPKM 11.2) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
14q12
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24172080..24180923)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18370390..18378718)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24641289..24649460)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ring finger protein 31 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8191 Neighboring gene RNA, 5S ribosomal pseudogene 383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8192 Neighboring gene interferon regulatory factor 9 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:24640701-24641201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8193 Neighboring gene importin 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:24657018-24657228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5630 Neighboring gene transmembrane 9 superfamily member 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:24664227-24664926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8195 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:24669563-24670500 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:24671230-24672429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24672535-24673433 Neighboring gene testis specific serine kinase 4

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. REC8 promotes tumor migration, invasion and angiogenesis by targeting the PKA pathway in hepatocellular carcinoma. Han J, et al. Clin Exp Med, 2021 Aug. PMID 33677646
  2. REC8 suppresses tumor angiogenesis by inhibition of NF-κB-mediated vascular endothelial growth factor expression in gastric cancer cells. Liu M, et al. Biol Res, 2020 Sep 21. PMID 32958054, Free PMC Article
  3. REC8 functions as a tumor suppressor and is epigenetically downregulated in gastric cancer, especially in EBV-positive subtype. Yu J, et al. Oncogene, 2017 Jan 12. PMID 27212034, Free PMC Article
  4. REC8 is a novel tumor suppressor gene epigenetically robustly targeted by the PI3K pathway in thyroid cancer. Liu D, et al. Oncotarget, 2015 Nov 17. PMID 26472282, Free PMC Article
  5. The role of meiotic cohesin REC8 in chromosome segregation in gamma irradiation-induced endopolyploid tumour cells. Erenpreisa J, et al. Exp Cell Res, 2009 Sep 10. PMID 19463812

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. REC8 regulates neuroblastoma cell proliferation, migration, invasion, and angiogenesis via STAT3/VEGF signaling.
    Title: REC8 regulates neuroblastoma cell proliferation, migration, invasion, and angiogenesis via STAT3/VEGF signaling.
  2. REC8 inhibits proliferation, migration and invasion of breast cancer cells by targeting CDC20.
    Title: REC8 inhibits proliferation, migration and invasion of breast cancer cells by targeting CDC20.
  3. 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.
  4. Centromeres are dismantled by foundational meiotic proteins Spo11 and Rec8.
    Title: Centromeres are dismantled by foundational meiotic proteins Spo11 and Rec8.
  5. REC8 promotes tumor migration, invasion and angiogenesis by targeting the PKA pathway in hepatocellular carcinoma.
    Title: REC8 promotes tumor migration, invasion and angiogenesis by targeting the PKA pathway in hepatocellular carcinoma.
  6. REC8 suppresses tumor angiogenesis by inhibition of NF-kappaB-mediated vascular endothelial growth factor expression in gastric cancer cells.
    Title: REC8 suppresses tumor angiogenesis by inhibition of NF-κB-mediated vascular endothelial growth factor expression in gastric cancer cells.
  7. Rec8-Stag3 cohesin is shown to be susceptible to Wapl-dependent ring opening and sororin-mediated protection.
    Title: Studying meiotic cohesin in somatic cells reveals that Rec8-containing cohesin requires Stag3 to function and is regulated by Wapl and sororin.
  8. we determined that REC8 interacted with EGR1, and inhibited EMT in gastric cancer cells. We thus propose further studies of the pathways associated with REC8 and EGR1 to potentially find novel targets in the treatment for gastric cancer.
    Title: REC8 inhibits EMT by downregulating EGR1 in gastric cancer cells.
  9. Study confirmed that REC8 was downregulated in gastric neoplasm, especially in the EBV-associated subtype, via promoter methylation.
    Title: REC8 functions as a tumor suppressor and is epigenetically downregulated in gastric cancer, especially in EBV-positive subtype.
  10. REC8 being a novel major bona fide tumor suppressor gene and a robust epigenetic target of the PI3K pathway. Aberrant inactivation of REC8 through hypermethylation by the PI3K pathway may represent an important mechanism mediating the oncogenic functions of the PI3K pathway
    Title: REC8 is a novel tumor suppressor gene epigenetically robustly targeted by the PI3K pathway in thyroid cancer.
Submit: New GeneRIF Correction See all GeneRIFs (14)

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

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC950

Gene Ontology Provided by GOA

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
involved_in double-strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fertilization IEA
Inferred from Electronic Annotation
more info
  
involved_in male meiosis I IEA
Inferred from Electronic Annotation
more info
  
involved_in meiotic cell cycle TAS
Traceable Author Statement
more info
 PubMed 
involved_in meiotic sister chromatid cohesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in oocyte maturation IEA
Inferred from Electronic Annotation
more info
  
involved_in reciprocal meiotic recombination TAS
Traceable Author Statement
more info
 PubMed 
involved_in seminiferous tubule development IEA
Inferred from Electronic Annotation
more info
  
involved_in sister chromatid cohesion TAS
Traceable Author Statement
more info
 PubMed 
involved_in spermatid development IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis TAS
Traceable Author Statement
more info
 PubMed 
involved_in synaptonemal complex assembly IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in kinetochore IEA
Inferred from Electronic Annotation
more info
  
located_in lateral element IEA
Inferred from Electronic Annotation
more info
  
located_in male germ cell nucleus IEA
Inferred from Electronic Annotation
more info
  
part_of meiotic cohesin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of meiotic cohesin complex IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
meiotic recombination protein REC8 homolog
Names
REC8 homolog
REC8-like 1
cohesin Rec8p
cohesion rec8p
human homolog of rad21, S. pombe
kleisin-alpha
meiotic recombination and sister chromatid cohesion phosphoprotein of the rad21p family
meiotic recombination protein REC8-like 1
recombination and sister chromatid cohesion protein homolog

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_001048205.2 → NP_001041670.1  meiotic recombination protein REC8 homolog

    See identical proteins and their annotated locations for NP_001041670.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1.
    Source sequence(s)
    BC010887, DB294585
    Consensus CDS
    CCDS41932.1
    UniProtKB/Swiss-Prot
    A8K576, D3DS62, O95072, Q658V5, Q6IA92, Q8WUV8, Q9BTF2, Q9NVQ9
    Related
    ENSP00000482439.1, ENST00000611366.5
    Conserved Domains (2) summary
    pfam04824
    Location:492 → 546
    Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
    pfam04825
    Location:1 → 113
    Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein

  2. NM_005132.3 → NP_005123.2  meiotic recombination protein REC8 homolog

    See identical proteins and their annotated locations for NP_005123.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript.
    Source sequence(s)
    AA496891, AK001435, AL136295
    Consensus CDS
    CCDS41932.1
    UniProtKB/Swiss-Prot
    A8K576, D3DS62, O95072, Q658V5, Q6IA92, Q8WUV8, Q9BTF2, Q9NVQ9
    Related
    ENSP00000482546.1, ENST00000620473.4
    Conserved Domains (2) summary
    pfam04824
    Location:492 → 546
    Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
    pfam04825
    Location:1 → 113
    Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    24172080..24180923
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537421.3 → XP_011535723.1  meiotic recombination protein REC8 homolog isoform X1

    Conserved Domains (2) summary
    pfam04824
    Location:492 → 519
    Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
    pfam04825
    Location:1 → 113
    Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein

  2. XM_024449794.2 → XP_024305562.1  meiotic recombination protein REC8 homolog isoform X1

    Conserved Domains (2) summary
    pfam04824
    Location:492 → 519
    Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
    pfam04825
    Location:1 → 113
    Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein

  3. XM_047432022.1 → XP_047287978.1  meiotic recombination protein REC8 homolog isoform X3

  4. XM_047432023.1 → XP_047287979.1  meiotic recombination protein REC8 homolog isoform X4

  5. XM_017021841.3 → XP_016877330.1  meiotic recombination protein REC8 homolog isoform X2

    UniProtKB/TrEMBL
    A0A075B715
    Related
    ENSP00000452701.1, ENST00000559797.1
    Conserved Domains (1) summary
    pfam04824
    Location:225 → 252
    Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein

  6. XM_047432024.1 → XP_047287980.1  meiotic recombination protein REC8 homolog isoform X5

RNA

  1. XR_007064052.1 RNA Sequence

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p14 PATCHES

    Range
    473058..481386
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332370.1 → XP_054188345.1  meiotic recombination protein REC8 homolog isoform X1

  2. XM_054332369.1 → XP_054188344.1  meiotic recombination protein REC8 homolog isoform X1

  3. XM_054332372.1 → XP_054188347.1  meiotic recombination protein REC8 homolog isoform X3

  4. XM_054332373.1 → XP_054188348.1  meiotic recombination protein REC8 homolog isoform X4

  5. XM_054332371.1 → XP_054188346.1  meiotic recombination protein REC8 homolog isoform X2

  6. XM_054332374.1 → XP_054188349.1  meiotic recombination protein REC8 homolog isoform X5

RNA

  1. XR_008485763.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    18370390..18378718
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377149.1 → XP_054233124.1  meiotic recombination protein REC8 homolog isoform X1

  2. XM_054377148.1 → XP_054233123.1  meiotic recombination protein REC8 homolog isoform X1

  3. XM_054377151.1 → XP_054233126.1  meiotic recombination protein REC8 homolog isoform X3

  4. XM_054377152.1 → XP_054233127.1  meiotic recombination protein REC8 homolog isoform X4

  5. XM_054377150.1 → XP_054233125.1  meiotic recombination protein REC8 homolog isoform X2

  6. XM_054377153.1 → XP_054233128.1  meiotic recombination protein REC8 homolog isoform X5

RNA

  1. XR_008488902.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95072.1 GenPept UniProtKB/Swiss-Prot:O95072

Gene LinkOut

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