O95072 (REC8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Meiotic recombination protein REC8 homolog

Alternative name(s):
Cohesin Rec8p

Gene names

Name:	REC8
Synonyms:	REC8L1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	547 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript 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.
Tissue specificity	Expressed in testis and thymus. Ref.1
Post-translational modification	Phosphorylated By similarity.
Sequence similarities	Belongs to the rad21 family.

Ontologies

Keywords
Biological process	Chromosome partition Meiosis
Cellular component	Chromosome Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	male meiosis I Inferred from electronic annotation. Source: Compara oocyte maturation Inferred from electronic annotation. Source: Compara reciprocal meiotic recombination Traceable author statement Ref.1. Source: ProtInc sister chromatid cohesion Traceable author statement Ref.1. Source: ProtInc spermatid development Inferred from electronic annotation. Source: Compara spermatogenesis Traceable author statement Ref.1. Source: ProtInc synapsis Inferred from electronic annotation. Source: Compara
Cellular_component	condensed nuclear chromosome kinetochore Inferred from electronic annotation. Source: Compara lateral element Inferred from electronic annotation. Source: Compara male germ cell nucleus Inferred from electronic annotation. Source: Compara nuclear meiotic cohesin complex Inferred from electronic annotation. Source: Compara 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 547	547	Meiotic recombination protein REC8 homolog		PRO_0000097878
Regions
	Compositional bias	160 – 480	321	Glu-rich
	Compositional bias	237 – 297	61	Pro-rich
Natural variations
	Alternative sequence	272 – 288	17	Missing in isoform 2.		VSP_037649
	Natural variant	31	1	R → C. Corresponds to variant rs34075659 [ dbSNP | Ensembl ].		VAR_051722
	Natural variant	294	1	P → L. Corresponds to variant rs35425516 [ dbSNP | Ensembl ].		VAR_051723
	Natural variant	411	1	V → F. Ref.7 Corresponds to variant rs17855369 [ dbSNP | Ensembl ].		VAR_058128
Experimental info
	Sequence conflict	89	1	V → A in BAA91690. Ref.2
	Sequence conflict	180	1	E → G in BAF83880. Ref.2
	Sequence conflict	230	1	Missing in AL136295. Ref.5
	Sequence conflict	289	1	R → G in BAF83880. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: 544AA31F2D038D7B	FASTA	547	62,614
	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
	Isoform 2 [UniParc]. Checksum: E6312A916BE28FF7	FASTA	530	60,774
	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 MRRPPVPPPP RRRRRRRLLF WDKETQISPE 310 320 330 340 350 360 KFQEQLQTRA HCWECPMVQP PERTIRGPAE LFRTPTLSGW LPPELLGLWT HCAQPPPKAL 370 380 390 400 410 420 RRELPEEAAA EEERRKIEVP SEIEVPREAL EPSVPLMVSL EISLEAAEEE KSRISLIPPE 430 440 450 460 470 480 ERWAWPEVEA PEAPALPVVP ELPEVPMEMP LVLPPELELL SLEAVHRAVA LELQANREPD 490 500 510 520 530 FSSLVSPLSP RRMAARVFYL LLVLSAQQIL HVKQEKPYGR LLIQPGPRFH

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00293487. IPI00937443.
RefSeq	NP_001041670.1. NM_001048205.1. NP_005123.2. NM_005132.2.
UniGene	Hs.419259.
3D structure databases
ProteinModelPortal	O95072.
SMR	O95072. Positions 484-547.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000308699.
PTM databases
PhosphoSite	O95072.
Proteomic databases
PaxDb	O95072.
PRIDE	O95072.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000311457; ENSP00000308699; ENSG00000100918.
GeneID	9985.
KEGG	hsa:9985.
UCSC	uc001wmr.3. human.
Organism-specific databases
CTD	9985.
GeneCards	GC14P024641.
HGNC	HGNC:16879. REC8.
HPA	HPA031727. HPA031729.
MIM	608193. gene.
neXtProt	NX_O95072.
PharmGKB	PA162401009.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG248028.
HOVERGEN	HBG056766.
InParanoid	O95072.
KO	K13054.
OrthoDB	EOG4B5P55.
Enzyme and pathway databases
Reactome	REACT_111183. Meiosis. REACT_115566. Cell Cycle.
Gene expression databases
ArrayExpress	O95072.
Bgee	O95072.
CleanEx	HS_REC8.
Genevestigator	O95072.
GermOnline	ENSG00000100918. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.580. 1 hit.
InterPro	IPR023093. Rad21/Rec8_C. IPR006909. Rad21/Rec8_C_eu. IPR006910. Rad21_Rec8_N. [Graphical view]
Pfam	PF04824. Rad21_Rec8. 1 hit. PF04825. Rad21_Rec8_N. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9985.
NextBio	37700.
SOURCE	Search...

Entry information

Entry name

REC8_HUMAN

Accession

Primary (citable) accession number: O95072
Secondary accession number(s): A8K576 , D3DS62, Q658V5, Q6IA92, Q8WUV8, Q9BTF2, Q9NVQ9

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 16, 2004
Last sequence update:	May 1, 1999
Last modified:	April 3, 2013
This is version 88 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.