Human Gene REC8 (ENST00000611366.5_5) from GENCODE V47lift37
  Description: REC8 meiotic recombination protein, transcript variant 1 (from RefSeq NM_005132.3)
Gencode Transcript: ENST00000611366.5_5
Gencode Gene: ENSG00000100918.14_14
Transcript (Including UTRs)
   Position: hg19 chr14:24,641,289-24,649,460 Size: 8,172 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg19 chr14:24,641,762-24,649,301 Size: 7,540 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:24,641,289-24,649,460)mRNA (may differ from genome)Protein (546 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: REC8_HUMAN
DESCRIPTION: RecName: Full=Meiotic recombination protein REC8 homolog; AltName: Full=Cohesin Rec8p;
FUNCTION: Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II (By similarity).
SUBUNIT: Interacts (phosphorylated and unphosphorylated form) with SMC3. Interacts with SYCP3. Interacts (phosphorylated and unphosphorylated form) with SMC1B. Does not interact with SMC1A. Interacts with RAD51 (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity). Chromosome (By similarity). Note=In meiotic chromosomes, localized along axial elements in prophase from the leptotene to diplotene stages. At later prophase stages, diakinesis and metaphase I, localized along interstitial axes of chromosomes including both centromere and arm regions. No longer detected in arm regions in anaphase I but persists on centromere regions until metaphase II (By similarity).
TISSUE SPECIFICITY: Expressed in testis and thymus.
PTM: Phosphorylated (By similarity).
SIMILARITY: Belongs to the rad21 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -191.60473-0.405 Picture PostScript Text
3' UTR -31.00159-0.195 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023093 - Rad21/Rec8_C
IPR006909 - Rad21/Rec8_C_eu
IPR006910 - Rad21_Rec8_N

Pfam Domains:
PF04824 - Conserved region of Rad21 / Rec8 like protein
PF04825 - N terminus of Rad21 / Rec8 like protein

SCOP Domains:
46785 - "Winged helix" DNA-binding domain

ModBase Predicted Comparative 3D Structure on O95072
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003682 chromatin binding

Biological Process:
GO:0000724 double-strand break repair via homologous recombination
GO:0001556 oocyte maturation
GO:0006302 double-strand break repair
GO:0007059 chromosome segregation
GO:0007062 sister chromatid cohesion
GO:0007129 synapsis
GO:0007130 synaptonemal complex assembly
GO:0007131 reciprocal meiotic recombination
GO:0007141 male meiosis I
GO:0007283 spermatogenesis
GO:0007286 spermatid development
GO:0009566 fertilization
GO:0051321 meiotic cell cycle
GO:0072520 seminiferous tubule development

Cellular Component:
GO:0000228 nuclear chromosome
GO:0000775 chromosome, centromeric region
GO:0000778 condensed nuclear chromosome kinetochore
GO:0000780 condensed nuclear chromosome, centromeric region
GO:0000793 condensed chromosome
GO:0000794 condensed nuclear chromosome
GO:0000795 synaptonemal complex
GO:0000798 nuclear cohesin complex
GO:0000800 lateral element
GO:0001673 male germ cell nucleus
GO:0005634 nucleus
GO:0005694 chromosome
GO:0030893 meiotic cohesin complex
GO:0034991 nuclear meiotic cohesin complex


-  Descriptions from all associated GenBank mRNAs
  AK291191 - Homo sapiens cDNA FLJ78134 complete cds, highly similar to Homo sapiens REC8-like 1 (yeast), mRNA.
AK001435 - Homo sapiens cDNA FLJ10573 fis, clone NT2RP2003177.
BC010887 - Homo sapiens REC8 homolog (yeast), mRNA (cDNA clone MGC:950 IMAGE:3535425), complete cds.
AL832973 - Homo sapiens mRNA; cDNA DKFZp666G202 (from clone DKFZp666G202).
JD114790 - Sequence 95814 from Patent EP1572962.
JD405545 - Sequence 386569 from Patent EP1572962.
JD151665 - Sequence 132689 from Patent EP1572962.
BC004159 - Homo sapiens REC8 homolog (yeast), mRNA (cDNA clone MGC:2445 IMAGE:2822680), complete cds.
CU679839 - Synthetic construct Homo sapiens gateway clone IMAGE:100017400 5' read REC8 mRNA.
CU678596 - Synthetic construct Homo sapiens gateway clone IMAGE:100017697 5' read REC8 mRNA.
CR457263 - Homo sapiens full open reading frame cDNA clone RZPDo834A046D for gene REC8L1, REC8-like 1 (yeast); complete cds, incl. stopcodon.
AF006264 - Homo sapiens recombination and sister chromatid cohesion protein homolog (hrec8) mRNA, partial cds.
KJ892886 - Synthetic construct Homo sapiens clone ccsbBroadEn_02280 REC8 gene, encodes complete protein.
KJ898132 - Synthetic construct Homo sapiens clone ccsbBroadEn_07526 REC8 gene, encodes complete protein.
BC019326 - Homo sapiens REC8 homolog (yeast), mRNA (cDNA clone IMAGE:2823630), partial cds.
JD220862 - Sequence 201886 from Patent EP1572962.
JD036972 - Sequence 17996 from Patent EP1572962.
JD144112 - Sequence 125136 from Patent EP1572962.
JD358656 - Sequence 339680 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95072 (Reactome details) participates in the following event(s):

R-HSA-912467 BRCA1 is recruited to unsynapsed regions
R-HSA-912470 ATR phosphorylates Histone H2A.X at unsynapsed regions
R-HSA-912450 ATR Kinase is recruited to unsynapsed regions
R-HSA-1221632 Meiotic synapsis
R-HSA-1500620 Meiosis
R-HSA-1474165 Reproduction
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: A8K576, D3DS62, ENST00000611366.1, ENST00000611366.2, ENST00000611366.3, ENST00000611366.4, NM_005132, O95072, Q658V5, Q6IA92, Q8WUV8, Q9BTF2, Q9NVQ9, REC8L1, REC8_HUMAN, uc327nhy.1, uc327nhy.2
UCSC ID: ENST00000611366.5_5
RefSeq Accession: NM_001048205.2
Protein: O95072 (aka REC8_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.