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

    Gene ID: 9985, updated on 27-Nov-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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    See REC8 in Genome Data Viewer
    Location:
    14q12
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24172080..24180923)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18370390..18378718)
    RS_2024_09 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. 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
    2. Analysis of the meiotic recombination gene REC8 for sequence variations in a population with severe male factor infertility. Griffin J, et al. Syst Biol Reprod Med, 2008 May-Jun. PMID 18570052
    3. REC8 regulates neuroblastoma cell proliferation, migration, invasion, and angiogenesis via STAT3/VEGF signaling. Wang Q, et al. J Egypt Natl Canc Inst, 2023 Dec 18. PMID 38105365
    4. 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
    5. 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

    See all (30) 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)

    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 double-strand break repair via homologous recombination IEA
    Inferred from Electronic Annotation
    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
    		  
    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_2024_08

    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

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

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