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

Gene ID: 9985, updated on 17-Jun-2019

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
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

Genomic context

See REC8 in Genome Data Viewer
Location:
14q12
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24171931..24180408)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24641062..24649735)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ring finger protein 31 Neighboring gene RNA, 5S ribosomal pseudogene 383 Neighboring gene interferon regulatory factor 9 Neighboring gene importin 4 Neighboring gene transmembrane 9 superfamily member 1 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic synapsis, organism-specific biosystem (from REACTOME)
    Meiotic synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
  • Oocyte meiosis, organism-specific biosystem (from KEGG)
    Oocyte meiosis, organism-specific biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
  • Oocyte meiosis, conserved biosystem (from KEGG)
    Oocyte meiosis, conserved biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC950

Gene Ontology Provided by GOA

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

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
    O95072
    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
    O95072
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    24171931..24180408
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021841.2XP_016877330.1  meiotic recombination protein REC8 homolog isoform X4

    Related
    ENSP00000452701.1, ENST00000559797.1
    Conserved Domains (1) summary
    pfam04824
    Location:225252
    Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
  2. XM_024449793.1XP_024305561.1  meiotic recombination protein REC8 homolog isoform X1

    Conserved Domains (2) summary
    pfam04824
    Location:520547
    Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
    pfam04825
    Location:188
    Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein
  3. XM_011537421.2XP_011535723.1  meiotic recombination protein REC8 homolog isoform X2

    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
  4. XM_024449792.1XP_024305560.1  meiotic recombination protein REC8 homolog isoform X1

    Conserved Domains (2) summary
    pfam04824
    Location:520547
    Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
    pfam04825
    Location:188
    Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein
  5. XM_024449794.1XP_024305562.1  meiotic recombination protein REC8 homolog isoform X2

    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
  6. XM_024449795.1XP_024305563.1  meiotic recombination protein REC8 homolog isoform X3

    Conserved Domains (2) summary
    pfam04824
    Location:520574
    Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
    pfam04825
    Location:188
    Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein
  7. XM_024449796.1XP_024305564.1  meiotic recombination protein REC8 homolog isoform X5

    Conserved Domains (1) summary
    pfam04825
    Location:188
    Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein

RNA

  1. XR_001750616.2 RNA Sequence

    Related
    ENST00000619469.4
  2. XR_001750618.2 RNA Sequence

  3. XR_002957580.1 RNA Sequence

  4. XR_002957575.1 RNA Sequence

  5. XR_002957574.1 RNA Sequence

  6. XR_002957577.1 RNA Sequence

  7. XR_002957576.1 RNA Sequence

  8. XR_002957579.1 RNA Sequence

  9. XR_002957578.1 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p13 PATCHES

    Range
    473058..481232
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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