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O95072 (REC8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Meiotic recombination protein REC8 homolog
Alternative name(s):
Cohesin Rec8p
Gene names
Name:REC8
Synonyms:REC8L1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length547 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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 structure

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. Localised to centromeres and spindle poles in endopolyploid tumor cells.

Tissue specificity

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

Post-translational modification

Phosphorylated By similarity.

Sequence similarities

Belongs to the rad21 family.

Ontologies

Keywords
   Biological processChromosome partition
Meiosis
   Cellular componentChromosome
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processdouble-strand break repair via homologous recombination

Inferred from electronic annotation. Source: Ensembl

fertilization

Inferred from electronic annotation. Source: Ensembl

linear element assembly

Inferred from electronic annotation. Source: Ensembl

male meiosis I

Inferred from electronic annotation. Source: Ensembl

meiotic nuclear division

Traceable author statement Ref.1. Source: ProtInc

oocyte maturation

Inferred from electronic annotation. Source: Ensembl

reciprocal meiotic recombination

Traceable author statement Ref.1. Source: ProtInc

seminiferous tubule development

Inferred from electronic annotation. Source: Ensembl

sister chromatid cohesion

Traceable author statement Ref.1. Source: ProtInc

spermatid development

Inferred from electronic annotation. Source: Ensembl

spermatogenesis

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentcondensed nuclear chromosome kinetochore

Inferred from electronic annotation. Source: Ensembl

lateral element

Inferred from electronic annotation. Source: Ensembl

male germ cell nucleus

Inferred from electronic annotation. Source: Ensembl

nuclear meiotic cohesin complex

Inferred from electronic annotation. Source: Ensembl

nucleus

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O95072-1)

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.
Isoform 2 (identifier: O95072-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 547547Meiotic recombination protein REC8 homolog
PRO_0000097878

Regions

Compositional bias160 – 480321Glu-rich
Compositional bias237 – 29761Pro-rich

Natural variations

Alternative sequence272 – 28817Missing in isoform 2.
VSP_037649
Natural variant311R → C.
Corresponds to variant rs34075659 [ dbSNP | Ensembl ].
VAR_051722
Natural variant2941P → L.
Corresponds to variant rs35425516 [ dbSNP | Ensembl ].
VAR_051723
Natural variant4111V → F. Ref.7
Corresponds to variant rs17855369 [ dbSNP | Ensembl ].
VAR_058128

Experimental info

Sequence conflict891V → A in BAA91690. Ref.2
Sequence conflict1801E → G in BAF83880. Ref.2
Sequence conflict2301Missing in AL136295. Ref.5
Sequence conflict2891R → G in BAF83880. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: 544AA31F2D038D7B

FASTA54762,614
        10         20         30         40         50         60 
MFYYPNVLQR HTGCFATIWL AATRGSRLVK REYLRVNVVK TCEEILNYVL VRVQPPQPGL 

        70         80         90        100        110        120 
PRPRFSLYLS AQLQIGVIRV YSQQCQYLVE DIQHILERLH RAQLQIRIDM ETELPSLLLP 

       130        140        150        160        170        180 
NHLAMMETLE DAPDPFFGMM SVDPRLPSPF DIPQIRHLLE AAIPERVEEI PPEVPTEPRE 

       190        200        210        220        230        240 
PERIPVTVLP PEAITILEAE PIRMLEIEGE RELPEVSRRE LDLLIAEEEE AILLEIPRLP 

       250        260        270        280        290        300 
PPAPAEVEGI GEALGPEELR LTGWEPGALL MEVTPPEELR LPAPPSPERR PPVPPPPRRR 

       310        320        330        340        350        360 
RRRRLLFWDK ETQISPEKFQ EQLQTRAHCW ECPMVQPPER TIRGPAELFR TPTLSGWLPP 

       370        380        390        400        410        420 
ELLGLWTHCA QPPPKALRRE LPEEAAAEEE RRKIEVPSEI EVPREALEPS VPLMVSLEIS 

       430        440        450        460        470        480 
LEAAEEEKSR ISLIPPEERW AWPEVEAPEA PALPVVPELP EVPMEMPLVL PPELELLSLE 

       490        500        510        520        530        540 
AVHRAVALEL QANREPDFSS LVSPLSPRRM AARVFYLLLV LSAQQILHVK QEKPYGRLLI 


QPGPRFH 

« Hide

Isoform 2 [UniParc].

Checksum: E6312A916BE28FF7
Show »

FASTA53060,774

References

« Hide 'large scale' references
[1]"Rec8p, a meiotic recombination and sister chromatid cohesion phosphoprotein of the Rad21p family conserved from fission yeast to humans."
Parisi S., McKay M.J., Molnar M., Thompson M.A., van der Spek P.J., van Drunen-Schoenmaker E., Kanaar R., Lehmann E., Hoeijmakers J.H.J., Kohli J.
Mol. Cell. Biol. 19:3515-3528(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Teratocarcinoma.
[3]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Stomach.
[5]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PHE-411.
Tissue: Lung.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS41932.1. [O95072-1]
RefSeqNP_001041670.1. NM_001048205.1. [O95072-1]
NP_005123.2. NM_005132.2. [O95072-1]
UniGeneHs.419259.

3D structure databases

ProteinModelPortalO95072.
SMRO95072. Positions 482-542.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115306. 4 interactions.
STRING9606.ENSP00000308699.

PTM databases

PhosphoSiteO95072.

Proteomic databases

PaxDbO95072.
PRIDEO95072.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311457; ENSP00000308699; ENSG00000100918.
GeneID9985.
KEGGhsa:9985.
UCSCuc001wmr.3. human. [O95072-1]

Organism-specific databases

CTD9985.
GeneCardsGC14P024641.
HGNCHGNC:16879. REC8.
HPAHPA031727.
HPA031729.
MIM608193. gene.
neXtProtNX_O95072.
PharmGKBPA162401009.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG248028.
HOVERGENHBG056766.
InParanoidO95072.
KOK13054.
OrthoDBEOG7K6PV2.
PhylomeDBO95072.
TreeFamTF338144.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.

Gene expression databases

ArrayExpressO95072.
BgeeO95072.
CleanExHS_REC8.
GenevestigatorO95072.

Family and domain databases

Gene3D1.10.10.580. 1 hit.
InterProIPR023093. Rad21/Rec8_C.
IPR006909. Rad21/Rec8_C_eu.
IPR006910. Rad21_Rec8_N.
[Graphical view]
PfamPF04824. Rad21_Rec8. 1 hit.
PF04825. Rad21_Rec8_N. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiREC8.
GenomeRNAi9985.
NextBio37700.
PROO95072.
SOURCESearch...

Entry information

Entry nameREC8_HUMAN
AccessionPrimary (citable) accession number: O95072
Secondary accession number(s): A8K576 expand/collapse secondary AC list , D3DS62, Q658V5, Q6IA92, Q8WUV8, Q9BTF2, Q9NVQ9
Entry history
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: May 1, 1999
Last modified: July 9, 2014
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM