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O95072

- REC8_HUMAN

UniProt

O95072 - REC8_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiO95072.
CleanExiHS_REC8.
ExpressionAtlasiO95072. baseline and differential.
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.
GeneTreeiENSGT00390000011379.
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

        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)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

EnsembliENST00000611366; ENSP00000482439; ENSG00000100918. [O95072-1]
ENST00000620473; ENSP00000482546; ENSG00000100918. [O95072-1]
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 ENST00000611366 ; ENSP00000482439 ; ENSG00000100918 . [O95072-1 ]
ENST00000620473 ; ENSP00000482546 ; ENSG00000100918 . [O95072-1 ]
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.
GeneTreei ENSGT00390000011379.
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

Bgeei O95072.
CleanExi HS_REC8.
ExpressionAtlasi O95072. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 100 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