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O95072

- REC8_HUMAN

UniProt

O95072 - REC8_HUMAN

Protein

Meiotic recombination protein REC8 homolog

Gene

REC8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    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 - Biological processi

    1. double-strand break repair via homologous recombination Source: Ensembl
    2. fertilization Source: Ensembl
    3. linear element assembly Source: Ensembl
    4. male meiosis I Source: Ensembl
    5. meiotic nuclear division Source: ProtInc
    6. oocyte maturation Source: Ensembl
    7. reciprocal meiotic recombination Source: ProtInc
    8. seminiferous tubule development Source: Ensembl
    9. sister chromatid cohesion Source: ProtInc
    10. spermatid development Source: Ensembl
    11. spermatogenesis Source: ProtInc

    Keywords - Biological processi

    Chromosome partition, Meiosis

    Enzyme and pathway databases

    ReactomeiREACT_75792. 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
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:16879. REC8.

    Subcellular locationi

    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.By similarity

    GO - Cellular componenti

    1. condensed nuclear chromosome kinetochore Source: Ensembl
    2. lateral element Source: Ensembl
    3. male germ cell nucleus Source: Ensembl
    4. nuclear meiotic cohesin complex Source: Ensembl
    5. nucleus Source: ProtInc

    Keywords - Cellular componenti

    Chromosome, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162401009.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 547547Meiotic recombination protein REC8 homologPRO_0000097878Add
    BLAST

    Post-translational modificationi

    Phosphorylated.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiO95072.
    PRIDEiO95072.

    PTM databases

    PhosphoSiteiO95072.

    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

    ArrayExpressiO95072.
    BgeeiO95072.
    CleanExiHS_REC8.
    GenevestigatoriO95072.

    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. 4 interactions.
    IntActiO95072. 11 interactions.
    STRINGi9606.ENSP00000308699.

    Structurei

    3D structure databases

    ProteinModelPortaliO95072.
    SMRiO95072. Positions 482-542.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi160 – 480321Glu-richAdd
    BLAST
    Compositional biasi237 – 29761Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the rad21 family.Curated

    Phylogenomic databases

    eggNOGiNOG248028.
    HOVERGENiHBG056766.
    InParanoidiO95072.
    KOiK13054.
    OrthoDBiEOG7K6PV2.
    PhylomeDBiO95072.
    TreeFamiTF338144.

    Family and domain databases

    Gene3Di1.10.10.580. 1 hit.
    InterProiIPR023093. Rad21/Rec8_C.
    IPR006909. Rad21/Rec8_C_eu.
    IPR006910. Rad21_Rec8_N.
    [Graphical view]
    PfamiPF04824. Rad21_Rec8. 1 hit.
    PF04825. Rad21_Rec8_N. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MFYYPNVLQR HTGCFATIWL AATRGSRLVK REYLRVNVVK TCEEILNYVL    50
    VRVQPPQPGL PRPRFSLYLS AQLQIGVIRV YSQQCQYLVE DIQHILERLH 100
    RAQLQIRIDM ETELPSLLLP NHLAMMETLE DAPDPFFGMM SVDPRLPSPF 150
    DIPQIRHLLE AAIPERVEEI PPEVPTEPRE PERIPVTVLP PEAITILEAE 200
    PIRMLEIEGE RELPEVSRRE LDLLIAEEEE AILLEIPRLP PPAPAEVEGI 250
    GEALGPEELR LTGWEPGALL MEVTPPEELR LPAPPSPERR PPVPPPPRRR 300
    RRRRLLFWDK ETQISPEKFQ EQLQTRAHCW ECPMVQPPER TIRGPAELFR 350
    TPTLSGWLPP ELLGLWTHCA QPPPKALRRE LPEEAAAEEE RRKIEVPSEI 400
    EVPREALEPS VPLMVSLEIS LEAAEEEKSR ISLIPPEERW AWPEVEAPEA 450
    PALPVVPELP EVPMEMPLVL PPELELLSLE AVHRAVALEL QANREPDFSS 500
    LVSPLSPRRM AARVFYLLLV LSAQQILHVK QEKPYGRLLI QPGPRFH 547
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti89 – 891V → A in BAA91690. (PubMed:14702039)Curated
    Sequence conflicti180 – 1801E → G in BAF83880. (PubMed:14702039)Curated
    Sequence conflicti230 – 2301Missing in AL136295. (PubMed:12508121)Curated
    Sequence conflicti289 – 2891R → G in BAF83880. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti31 – 311R → C.
    Corresponds to variant rs34075659 [ dbSNP | Ensembl ].
    VAR_051722
    Natural varianti294 – 2941P → L.
    Corresponds to variant rs35425516 [ dbSNP | Ensembl ].
    VAR_051723
    Natural varianti411 – 4111V → F.1 Publication
    Corresponds to variant rs17855369 [ dbSNP | Ensembl ].
    VAR_058128

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei272 – 28817Missing in isoform 2. 1 PublicationVSP_037649Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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

    EnsembliENST00000311457; ENSP00000308699; ENSG00000100918.
    GeneIDi9985.
    KEGGihsa:9985.
    UCSCiuc001wmr.3. human. [O95072-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS41932.1. [O95072-1 ]
    RefSeqi NP_001041670.1. NM_001048205.1. [O95072-1 ]
    NP_005123.2. NM_005132.2. [O95072-1 ]
    UniGenei Hs.419259.

    3D structure databases

    ProteinModelPortali O95072.
    SMRi O95072. Positions 482-542.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115306. 4 interactions.
    IntActi O95072. 11 interactions.
    STRINGi 9606.ENSP00000308699.

    PTM databases

    PhosphoSitei O95072.

    Proteomic databases

    PaxDbi O95072.
    PRIDEi O95072.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311457 ; ENSP00000308699 ; ENSG00000100918 .
    GeneIDi 9985.
    KEGGi hsa:9985.
    UCSCi uc001wmr.3. human. [O95072-1 ]

    Organism-specific databases

    CTDi 9985.
    GeneCardsi GC14P024641.
    HGNCi HGNC:16879. REC8.
    HPAi HPA031727.
    HPA031729.
    MIMi 608193. gene.
    neXtProti NX_O95072.
    PharmGKBi PA162401009.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG248028.
    HOVERGENi HBG056766.
    InParanoidi O95072.
    KOi K13054.
    OrthoDBi EOG7K6PV2.
    PhylomeDBi O95072.
    TreeFami TF338144.

    Enzyme and pathway databases

    Reactomei REACT_75792. Meiotic synapsis.

    Miscellaneous databases

    GeneWikii REC8.
    GenomeRNAii 9985.
    NextBioi 37700.
    PROi O95072.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95072.
    Bgeei O95072.
    CleanExi HS_REC8.
    Genevestigatori O95072.

    Family and domain databases

    Gene3Di 1.10.10.580. 1 hit.
    InterProi IPR023093. Rad21/Rec8_C.
    IPR006909. Rad21/Rec8_C_eu.
    IPR006910. Rad21_Rec8_N.
    [Graphical view ]
    Pfami PF04824. Rad21_Rec8. 1 hit.
    PF04825. Rad21_Rec8_N. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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. 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.

    Entry informationi

    Entry nameiREC8_HUMAN
    AccessioniPrimary (citable) accession number: O95072
    Secondary accession number(s): A8K576
    , D3DS62, Q658V5, Q6IA92, Q8WUV8, Q9BTF2, Q9NVQ9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 16, 2004
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 99 of the entry and version 1 of the sequence. [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

    External Data

    Dasty 3