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

    Gene ID: 9985, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001048205.2NP_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:492546
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
      pfam04825
      Location:1113
      Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein
    2. NM_005132.3NP_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:492546
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
      pfam04825
      Location:1113
      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_011537421.3XP_011535723.1  meiotic recombination protein REC8 homolog isoform X1

      Conserved Domains (2) summary
      pfam04824
      Location:492519
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
      pfam04825
      Location:1113
      Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein
    2. XM_024449794.2XP_024305562.1  meiotic recombination protein REC8 homolog isoform X1

      Conserved Domains (2) summary
      pfam04824
      Location:492519
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
      pfam04825
      Location:1113
      Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein
    3. XM_047432022.1XP_047287978.1  meiotic recombination protein REC8 homolog isoform X3

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

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

      UniProtKB/TrEMBL
      A0A075B715
      Related
      ENSP00000452701.1, ENST00000559797.1
      Conserved Domains (1) summary
      pfam04824
      Location:225252
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
    6. XM_047432024.1XP_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_054332370.1XP_054188345.1  meiotic recombination protein REC8 homolog isoform X1

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

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

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

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

      UniProtKB/TrEMBL
      A0A075B715
    6. XM_054332374.1XP_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_054377149.1XP_054233124.1  meiotic recombination protein REC8 homolog isoform X1

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

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

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

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

      UniProtKB/TrEMBL
      A0A075B715
    6. XM_054377153.1XP_054233128.1  meiotic recombination protein REC8 homolog isoform X5

    RNA

    1. XR_008488902.1 RNA Sequence