REC8_HUMAN
ID REC8_HUMAN Reviewed; 547 AA.
AC O95072; A8K576; D3DS62; Q658V5; Q6IA92; Q8WUV8; Q9BTF2; Q9NVQ9;
DT 16-JAN-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1999, sequence version 1.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=Meiotic recombination protein REC8 homolog;
DE AltName: Full=Cohesin Rec8p;
GN Name=REC8; Synonyms=REC8L1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=10207075; DOI=10.1128/mcb.19.5.3515;
RA Parisi S., McKay M.J., Molnar M., Thompson M.A., van der Spek P.J.,
RA van Drunen-Schoenmaker E., Kanaar R., Lehmann E., Hoeijmakers J.H.J.,
RA Kohli J.;
RT "Rec8p, a meiotic recombination and sister chromatid cohesion
RT phosphoprotein of the Rad21p family conserved from fission yeast to
RT humans.";
RL Mol. Cell. Biol. 19:3515-3528(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Stomach;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT PHE-411.
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Required during meiosis for separation of sister chromatids
CC and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome
CC arms by separin during anaphase I allows for homologous chromosome
CC separation in meiosis I and cleavage of REC8 on centromeres during
CC anaphase II allows for sister chromatid separation in meiosis II (By
CC similarity). {ECO:0000250}.
CC -!- SUBUNIT: Interacts (phosphorylated and unphosphorylated form) with
CC SMC3. Interacts with SYCP3. Interacts (phosphorylated and
CC unphosphorylated form) with SMC1B. Does not interact with SMC1A.
CC Interacts with RAD51 (By similarity). Forms a complex with EWSR1,
CC PRDM9, SYCP3 and SYCP1; complex formation is dependent of
CC phosphorylated form of REC8 and requires PRDM9 bound to hotspot DNA;
CC EWSR1 joins PRDM9 with the chromosomal axis through REC8 (By
CC similarity). {ECO:0000250, ECO:0000250|UniProtKB:Q8C5S7}.
CC -!- INTERACTION:
CC O95072; O95816: BAG2; NbExp=2; IntAct=EBI-9361206, EBI-355275;
CC O95072; Q9UNE7: STUB1; NbExp=2; IntAct=EBI-9361206, EBI-357085;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q6AYJ4}.
CC Chromosome {ECO:0000250|UniProtKB:Q6AYJ4}. Chromosome, centromere
CC {ECO:0000250|UniProtKB:Q6AYJ4}. Note=In meiotic chromosomes, localized
CC along axial elements in prophase from the leptotene to diplotene
CC stages. At later prophase stages, diakinesis and metaphase I, localized
CC along interstitial axes of chromosomes including both centromere and
CC arm regions. No longer detected in arm regions in anaphase I but
CC persists on centromere regions until metaphase II. Localized to
CC centromeres and spindle poles in endopolyploid tumor cells.
CC {ECO:0000250|UniProtKB:Q6AYJ4}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O95072-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95072-2; Sequence=VSP_037649;
CC -!- TISSUE SPECIFICITY: Expressed in testis and thymus. Expressed in the B-
CC cell lines WI-L2-NS and Namalwa (at protein level).
CC {ECO:0000269|PubMed:10207075}.
CC -!- PTM: Phosphorylated. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the rad21 family. {ECO:0000305}.
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DR EMBL; AF006264; AAD01193.1; -; mRNA.
DR EMBL; AK001435; BAA91690.1; -; mRNA.
DR EMBL; AK291191; BAF83880.1; -; mRNA.
DR EMBL; CR457263; CAG33544.1; -; mRNA.
DR EMBL; AL832973; CAH56339.1; -; mRNA.
DR EMBL; AL136295; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471078; EAW66089.1; -; Genomic_DNA.
DR EMBL; CH471078; EAW66090.1; -; Genomic_DNA.
DR EMBL; BC004159; AAH04159.1; -; mRNA.
DR EMBL; BC010887; AAH10887.1; -; mRNA.
DR EMBL; BC019326; AAH19326.1; -; mRNA.
DR CCDS; CCDS41932.1; -. [O95072-1]
DR RefSeq; NP_001041670.1; NM_001048205.1. [O95072-1]
DR RefSeq; NP_005123.2; NM_005132.2. [O95072-1]
DR AlphaFoldDB; O95072; -.
DR BioGRID; 115306; 40.
DR IntAct; O95072; 26.
DR MINT; O95072; -.
DR STRING; 9606.ENSP00000482546; -.
DR iPTMnet; O95072; -.
DR PhosphoSitePlus; O95072; -.
DR BioMuta; REC8; -.
DR EPD; O95072; -.
DR MassIVE; O95072; -.
DR PaxDb; O95072; -.
DR PeptideAtlas; O95072; -.
DR PRIDE; O95072; -.
DR ProteomicsDB; 50642; -. [O95072-1]
DR ProteomicsDB; 50643; -. [O95072-2]
DR Antibodypedia; 22688; 248 antibodies from 29 providers.
DR DNASU; 9985; -.
DR Ensembl; ENST00000611366.5; ENSP00000482439.1; ENSG00000100918.14. [O95072-1]
DR Ensembl; ENST00000620473.4; ENSP00000482546.1; ENSG00000100918.14. [O95072-1]
DR Ensembl; ENST00000642486.2; ENSP00000493523.1; ENSG00000285007.2. [O95072-1]
DR Ensembl; ENST00000646765.1; ENSP00000495458.1; ENSG00000285007.2. [O95072-1]
DR GeneID; 9985; -.
DR KEGG; hsa:9985; -.
DR MANE-Select; ENST00000611366.5; ENSP00000482439.1; NM_001048205.2; NP_001041670.1.
DR UCSC; uc032awb.2; human. [O95072-1]
DR CTD; 9985; -.
DR DisGeNET; 9985; -.
DR GeneCards; REC8; -.
DR HGNC; HGNC:16879; REC8.
DR HPA; ENSG00000100918; Tissue enhanced (pituitary).
DR MIM; 608193; gene.
DR neXtProt; NX_O95072; -.
DR OpenTargets; ENSG00000100918; -.
DR PharmGKB; PA162401009; -.
DR VEuPathDB; HostDB:ENSG00000100918; -.
DR eggNOG; KOG1213; Eukaryota.
DR GeneTree; ENSGT00390000011379; -.
DR HOGENOM; CLU_036680_0_0_1; -.
DR InParanoid; O95072; -.
DR OMA; GALDPFF; -.
DR OrthoDB; 1582475at2759; -.
DR PhylomeDB; O95072; -.
DR TreeFam; TF338144; -.
DR PathwayCommons; O95072; -.
DR Reactome; R-HSA-1221632; Meiotic synapsis.
DR SignaLink; O95072; -.
DR BioGRID-ORCS; 9985; 19 hits in 1074 CRISPR screens.
DR ChiTaRS; REC8; human.
DR GeneWiki; REC8; -.
DR GenomeRNAi; 9985; -.
DR Pharos; O95072; Tbio.
DR PRO; PR:O95072; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; O95072; protein.
DR Bgee; ENSG00000100918; Expressed in adenohypophysis and 91 other tissues.
DR ExpressionAtlas; O95072; baseline and differential.
DR Genevisible; O95072; HS.
DR GO; GO:0008278; C:cohesin complex; IBA:GO_Central.
DR GO; GO:0000776; C:kinetochore; IEA:Ensembl.
DR GO; GO:0000800; C:lateral element; IEA:Ensembl.
DR GO; GO:0001673; C:male germ cell nucleus; IEA:Ensembl.
DR GO; GO:0034991; C:nuclear meiotic cohesin complex; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; TAS:ProtInc.
DR GO; GO:0003682; F:chromatin binding; IBA:GO_Central.
DR GO; GO:0006302; P:double-strand break repair; IBA:GO_Central.
DR GO; GO:0000724; P:double-strand break repair via homologous recombination; IEA:Ensembl.
DR GO; GO:0009566; P:fertilization; IEA:Ensembl.
DR GO; GO:0007141; P:male meiosis I; IEA:Ensembl.
DR GO; GO:0051321; P:meiotic cell cycle; TAS:ProtInc.
DR GO; GO:0051177; P:meiotic sister chromatid cohesion; IBA:GO_Central.
DR GO; GO:0001556; P:oocyte maturation; IEA:Ensembl.
DR GO; GO:0007131; P:reciprocal meiotic recombination; TAS:ProtInc.
DR GO; GO:0072520; P:seminiferous tubule development; IEA:Ensembl.
DR GO; GO:0007062; P:sister chromatid cohesion; IBA:GO_Central.
DR GO; GO:0007286; P:spermatid development; IEA:Ensembl.
DR GO; GO:0007283; P:spermatogenesis; TAS:ProtInc.
DR GO; GO:0007130; P:synaptonemal complex assembly; IEA:Ensembl.
DR Gene3D; 1.10.10.580; -; 1.
DR InterPro; IPR039781; Rad21/Rec8-like.
DR InterPro; IPR006909; Rad21/Rec8_C_eu.
DR InterPro; IPR006910; Rad21_Rec8_N.
DR InterPro; IPR023093; ScpA-like_C.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR PANTHER; PTHR12585; PTHR12585; 1.
DR Pfam; PF04824; Rad21_Rec8; 1.
DR Pfam; PF04825; Rad21_Rec8_N; 1.
DR SUPFAM; SSF46785; SSF46785; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Centromere; Chromosome; Chromosome partition;
KW Meiosis; Nucleus; Phosphoprotein; Reference proteome.
FT CHAIN 1..547
FT /note="Meiotic recombination protein REC8 homolog"
FT /id="PRO_0000097878"
FT REGION 278..301
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 278..292
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 148
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8C5S7"
FT VAR_SEQ 272..288
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_037649"
FT VARIANT 31
FT /note="R -> C (in dbSNP:rs34075659)"
FT /id="VAR_051722"
FT VARIANT 294
FT /note="P -> L (in dbSNP:rs35425516)"
FT /id="VAR_051723"
FT VARIANT 411
FT /note="V -> F (in dbSNP:rs17855369)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_058128"
FT CONFLICT 89
FT /note="V -> A (in Ref. 2; BAA91690)"
FT /evidence="ECO:0000305"
FT CONFLICT 180
FT /note="E -> G (in Ref. 2; BAF83880)"
FT /evidence="ECO:0000305"
FT CONFLICT 230
FT /note="Missing (in Ref. 5; AL136295)"
FT /evidence="ECO:0000305"
FT CONFLICT 289
FT /note="R -> G (in Ref. 2; BAF83880)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 547 AA; 62614 MW; 544AA31F2D038D7B CRC64;
MFYYPNVLQR HTGCFATIWL AATRGSRLVK REYLRVNVVK TCEEILNYVL VRVQPPQPGL
PRPRFSLYLS AQLQIGVIRV YSQQCQYLVE DIQHILERLH RAQLQIRIDM ETELPSLLLP
NHLAMMETLE DAPDPFFGMM SVDPRLPSPF DIPQIRHLLE AAIPERVEEI PPEVPTEPRE
PERIPVTVLP PEAITILEAE PIRMLEIEGE RELPEVSRRE LDLLIAEEEE AILLEIPRLP
PPAPAEVEGI GEALGPEELR LTGWEPGALL MEVTPPEELR LPAPPSPERR PPVPPPPRRR
RRRRLLFWDK ETQISPEKFQ EQLQTRAHCW ECPMVQPPER TIRGPAELFR TPTLSGWLPP
ELLGLWTHCA QPPPKALRRE LPEEAAAEEE RRKIEVPSEI EVPREALEPS VPLMVSLEIS
LEAAEEEKSR ISLIPPEERW AWPEVEAPEA PALPVVPELP EVPMEMPLVL PPELELLSLE
AVHRAVALEL QANREPDFSS LVSPLSPRRM AARVFYLLLV LSAQQILHVK QEKPYGRLLI
QPGPRFH
