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Protein

Meiotic recombination protein REC8 homolog

Gene

REC8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity

GO - Molecular functioni

GO - Biological processi

  • double-strand break repair Source: GO_Central
  • double-strand break repair via homologous recombination Source: Ensembl
  • fertilization Source: Ensembl
  • male meiosis I Source: Ensembl
  • meiotic cell cycle Source: ProtInc
  • oocyte maturation Source: Ensembl
  • reciprocal meiotic recombination Source: ProtInc
  • seminiferous tubule development Source: Ensembl
  • sister chromatid cohesion Source: ProtInc
  • spermatid development Source: Ensembl
  • spermatogenesis Source: ProtInc
  • synaptonemal complex assembly Source: Ensembl

Keywordsi

Biological processChromosome partition, Meiosis

Enzyme and pathway databases

ReactomeiR-HSA-1221632. Meiotic synapsis.

Names & Taxonomyi

Protein namesi
Recommended name:
Meiotic recombination protein REC8 homolog
Alternative name(s):
Cohesin Rec8p
Gene namesi
Name:REC8
Synonyms:REC8L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000100918.12.
HGNCiHGNC:16879. REC8.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Centromere, Chromosome, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi9985.
OpenTargetsiENSG00000100918.
PharmGKBiPA162401009.

Polymorphism and mutation databases

BioMutaiREC8.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000978781 – 547Meiotic recombination protein REC8 homologAdd BLAST547

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei148PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO95072.
PeptideAtlasiO95072.
PRIDEiO95072.

PTM databases

iPTMnetiO95072.
PhosphoSitePlusiO95072.

Expressioni

Tissue specificityi

Expressed in testis and thymus. Expressed in the B-cell lines WI-L2-NS and Namalwa (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000100918.
CleanExiHS_REC8.
ExpressionAtlasiO95072. baseline and differential.
GenevisibleiO95072. HS.

Organism-specific databases

HPAiHPA031727.
HPA031729.

Interactioni

Subunit structurei

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).By similarity

Protein-protein interaction databases

BioGridi115306. 14 interactors.
IntActiO95072. 11 interactors.
STRINGi9606.ENSP00000308699.

Structurei

3D structure databases

ProteinModelPortaliO95072.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi160 – 480Glu-richAdd BLAST321
Compositional biasi237 – 297Pro-richAdd BLAST61

Sequence similaritiesi

Belongs to the rad21 family.Curated

Phylogenomic databases

eggNOGiKOG1213. Eukaryota.
ENOG410XRB4. LUCA.
GeneTreeiENSGT00390000011379.
HOVERGENiHBG056766.
InParanoidiO95072.
KOiK13054.
OMAiCFATIWL.
OrthoDBiEOG091G0CXC.
PhylomeDBiO95072.
TreeFamiTF338144.

Family and domain databases

InterProiView protein in InterPro
IPR006909. Rad21/Rec8_C_eu.
IPR006910. Rad21_Rec8_N.
IPR036390. WH_DNA-bd_sf.
PfamiView protein in Pfam
PF04824. Rad21_Rec8. 1 hit.
PF04825. Rad21_Rec8_N. 1 hit.
SUPFAMiSSF46785. SSF46785. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O95072-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MFYYPNVLQR HTGCFATIWL AATRGSRLVK REYLRVNVVK TCEEILNYVL
60 70 80 90 100
VRVQPPQPGL PRPRFSLYLS AQLQIGVIRV YSQQCQYLVE DIQHILERLH
110 120 130 140 150
RAQLQIRIDM ETELPSLLLP NHLAMMETLE DAPDPFFGMM SVDPRLPSPF
160 170 180 190 200
DIPQIRHLLE AAIPERVEEI PPEVPTEPRE PERIPVTVLP PEAITILEAE
210 220 230 240 250
PIRMLEIEGE RELPEVSRRE LDLLIAEEEE AILLEIPRLP PPAPAEVEGI
260 270 280 290 300
GEALGPEELR LTGWEPGALL MEVTPPEELR LPAPPSPERR PPVPPPPRRR
310 320 330 340 350
RRRRLLFWDK ETQISPEKFQ EQLQTRAHCW ECPMVQPPER TIRGPAELFR
360 370 380 390 400
TPTLSGWLPP ELLGLWTHCA QPPPKALRRE LPEEAAAEEE RRKIEVPSEI
410 420 430 440 450
EVPREALEPS VPLMVSLEIS LEAAEEEKSR ISLIPPEERW AWPEVEAPEA
460 470 480 490 500
PALPVVPELP EVPMEMPLVL PPELELLSLE AVHRAVALEL QANREPDFSS
510 520 530 540
LVSPLSPRRM AARVFYLLLV LSAQQILHVK QEKPYGRLLI QPGPRFH
Length:547
Mass (Da):62,614
Last modified:May 1, 1999 - v1
Checksum:i544AA31F2D038D7B
GO
Isoform 2 (identifier: O95072-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     272-288: Missing.

Show »
Length:530
Mass (Da):60,774
Checksum:iE6312A916BE28FF7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti89V → A in BAA91690 (PubMed:14702039).Curated1
Sequence conflicti180E → G in BAF83880 (PubMed:14702039).Curated1
Sequence conflicti230Missing in AL136295 (PubMed:12508121).Curated1
Sequence conflicti289R → G in BAF83880 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05172231R → C. Corresponds to variant dbSNP:rs34075659Ensembl.1
Natural variantiVAR_051723294P → L. Corresponds to variant dbSNP:rs35425516Ensembl.1
Natural variantiVAR_058128411V → F1 PublicationCorresponds to variant dbSNP:rs17855369Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_037649272 – 288Missing in isoform 2. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF006264 mRNA. Translation: AAD01193.1.
AK001435 mRNA. Translation: BAA91690.1.
AK291191 mRNA. Translation: BAF83880.1.
CR457263 mRNA. Translation: CAG33544.1.
AL832973 mRNA. Translation: CAH56339.1.
AL136295 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW66089.1.
CH471078 Genomic DNA. Translation: EAW66090.1.
BC004159 mRNA. Translation: AAH04159.1.
BC010887 mRNA. Translation: AAH10887.1.
BC019326 mRNA. Translation: AAH19326.1.
CCDSiCCDS41932.1. [O95072-1]
RefSeqiNP_001041670.1. NM_001048205.1. [O95072-1]
NP_005123.2. NM_005132.2. [O95072-1]
UniGeneiHs.419259.

Genome annotation databases

EnsembliENST00000611366; ENSP00000482439; ENSG00000100918. [O95072-1]
ENST00000620473; ENSP00000482546; ENSG00000100918. [O95072-1]
GeneIDi9985.
KEGGihsa:9985.
UCSCiuc032awb.2. human. [O95072-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiREC8_HUMAN
AccessioniPrimary (citable) accession number: O95072
Secondary accession number(s): A8K576
, D3DS62, Q658V5, Q6IA92, Q8WUV8, Q9BTF2, Q9NVQ9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: May 1, 1999
Last modified: October 25, 2017
This is version 124 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families