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Description:
Protein EMSY.
Molecular weight: 1414
View which proteins in this organism that is involved with DNA Repair;
classified after biological processes (using data from the GOA project):
DNA repair( GO:0006281 )
Important dates:
24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
24-MAY-2004, sequence version 2.
07-MAR-2006, entry version 25.
Phylogenetic order:
Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Catarrhini Hominidae Homo.
To calculate the pI (Isoelectric point - the pH where a protein has a neutral charge),
go to this page and enter the protein ID (e.g 3MG_ECOLI): http://us.expasy.org/tools/pi_tool.html
Links to references in other databases for protein EMSY_HUMAN:
| Database | Pointer | Add. info#1 | Add. info#2 |
| EMBL | AJ430203 | CAD22881.1 | - |
| EMBL | AK023651 | BAB14627.1 | ALT_INIT |
| EMBL | AK075222 | BAC11481.1 | ALT_SEQ |
| EMBL | AY070433 | AAL65260.1 | ALT_INIT |
| EMBL | BC029375 | AAH29375.1 | ALT_INIT |
| EMBL | AF226047 | AAF86947.1 | ALT_INIT |
| PDB | 1UTU | X-ray | A/B=1-108. |
| PDB | 1UZ3 | X-ray | A/B=1-100. |
| Ensembl | ENSG00000158636 | Homo sapiens.1 | |
| HGNC | HGNC:18071 | C11orf30.1 | |
| MIM | 608574 | gene. | |
| InterPro | IPR005491 | ENT. | |
| Pfam | PF03735 | ENT | 1. |
| PROSITE | PS51138 | ENT | 1. |
Keywords:
3D-structure; Alternative splicing; Chromatin regulator; DNA damage; DNA repair; Nuclear protein; Phosphorylation; Repressor; Transcription; Transcription regulation.
References:
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR
RP LOCATION, DISEASE, INTERACTIONS WITH BRCA2; CBX1 AND ZMYND11, AND
RP MUTAGENESIS OF 100-VAL--LEU-102 AND LEU-106.
RX PubMed=14651845; DOI=10.1016/S0092-8674(03)00930-9;
RA Hughes-Davies L., Huntsman D., Ruas M., Fuks F., Bye J., Chin S.-F.,
RA Milner J., Brown L.A., Hsu F., Gilks B., Nielsen T., Schulzer M.,
RA Chia S., Ragaz J., Cahn A., Linger L., Ozdag H., Cattaneo E.,
RA Jordanova E.S., Schuuring E., Yu D.S., Venkitaraman A., Ponder B.,
RA Doherty A., Aparicio S., Bentley D., Theillet C., Ponting C.P.,
RA Caldas C., Kouzarides T.;
RT "EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer.";
RL Cell 115:523-535(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 144-369 AND 861-1322
RP (ISOFORM 1).
RC TISSUE=Placenta;
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [MRNA] OF 861-1322 (ISOFORM 2).
RC TISSUE=Brain;
RA Guo J.H., Zan Q., Yu L.;
RL Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1082-1322 (ISOFORM 1).
RC TISSUE=Urinary bladder;
RX MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899;
RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G.,
RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D.,
RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K.,
RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F.,
RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L.,
RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E.,
RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C.,
RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J.,
RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H.,
RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W.,
RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A.,
RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A.,
RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G.,
RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C.,
RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M.,
RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E.,
RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.;
RT "Generation and initial analysis of more than 15,000 full-length human
RT and mouse cDNA sequences.";
RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1115-1322 (ISOFORM 1).
RC TISSUE=Liver;
RA Li Y., Wu T., Xu S., Ren S., Chen Z., Han Z.;
RT "A novel gene expressed in human liver non-tumor tissue.";
RL Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP PHOSPHORYLATION SITES SER-209; SER-238 AND SER-1136.
RX PubMed=15302935; DOI=10.1073/pnas.0404720101;
RA Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J.,
RA Li J., Cohn M.A., Cantley L.C., Gygi S.P.;
RT "Large-scale characterization of HeLa cell nuclear phosphoproteins.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004).
Feature:
CHAIN 1 1322 Protein EMSY.
/FTId=PRO_0000086968.
DOMAIN 16 100 ENT.
REGION 1 478 Interaction with BRCA2.
REGION 104 108 Interaction with ZMYND11.
COMPBIAS 209 213 Poly-Ser.
COMPBIAS 326 391 Ser-rich.
COMPBIAS 395 464 Gln-rich.
COMPBIAS 496 636 Thr-rich.
COMPBIAS 719 723 Poly-Ser.
COMPBIAS 945 1099 Gln-rich.
MOD_RES 209 209 Phosphoserine.
MOD_RES 238 238 Phosphoserine.
MOD_RES 1136 1136 Phosphoserine.
VARSPLIC 1091 1257 Missing (in isoform 2).
/FTId=VSP_010431.
MUTAGEN 100 102 VPL->APA: Abolishes interaction with
CBX1.
MUTAGEN 106 106 L->A: Abolishes interaction with ZMYND11.
STRAND 1 1
STRAND 3 4
HELIX 7 9
HELIX 13 38
STRAND 39 40
HELIX 43 55
TURN 56 57
HELIX 60 71
TURN 72 72
HELIX 74 84
STRAND 86 86
STRAND 89 89
HELIX 90 97
TURN 104 105
Comments:
-!- FUNCTION: Regulator which is able to repress transcription,
possibly via its interaction with a multiprotein chromatin
remodeling complex that modifies the chromatin. Its interaction
with BRCA2, suggests that it may play a central role in the DNA
repair function of BRCA2.
-!- SUBUNIT: Interacts with the transactivation domain of BRCA2.
Interacts with CBX1 and ZMYND11. Does not interact with CBX3 or
CBX5.
-!- SUBCELLULAR LOCATION: Nuclear. Localizes to DNA damage markers in
irradiated cells; suggesting that it participates in DNA repair
process.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q7Z589-1; Sequence=Displayed;
Name=2;
IsoId=Q7Z589-2; Sequence=VSP_010431;
Note=No experimental confirmation available;
-!- DISEASE: Defects in EMSY may be a cause of sporadic breast cancer
and higher-grade ovarian cancers. Overexpressed through
amplification almost exclusively in sporadic breast cancer (13%)
and higher-grade ovarian cancer (17%). Amplification is associated
with worse survival, particularly in node-negative breast cancer,
suggesting that it may be of prognostic value.
-!- MISCELLANEOUS: Was named EMSY by Ref.1 because the protein
sequence contains the word 'SISTER', after the first author's
sister, who is a breast cancer nurse.
-!- SIMILARITY: Contains 1 ENT (EMSY N-terminal) domain.
-!- CAUTION: Ref.2 (BAC11481) sequence differs from that shown due to
a chimeric cDNA.
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Sequence length: 1322
MPVVWPTLLD LSRDECKRIL RKLELEAYAG VISALRAQGD LTKEKKDLLG ELSKVLSIST
ERHRAEVRRA VNDERLTTIA HNMSGPNSSS EWSIEGRRLV PLMPRLVPQT AFTVTANAVA
NAAIQHNASL PVPAETGSKE VVCYSYTSTT STPTSTPVPS GSIATVKSPR PASPASNVVV
LPSGSTVYVK SVSCSDEDEK PRKRRRTNSS SSSPVVLKEV PKAVVPVSKT ITVPVSGSPK
MSNIMQSIAN SLPPHMSPVK ITFTKPSTQT TNTTTQKVII VTTSPSSTFV PNILSKSHNY
AAVTKLVPTS VIASTTQKPP VVITASQSSL VSNSSSGSSS STPSPIPNTV AVTAVVSSTP
SVVMSTVAQG VSTSAIKMAS TRLPSPKSLV SAPTQILAQF PKQHQQSPKQ QLYQVQQQTQ
QQVAQPSPVS HQQQPQQSPL PPGIKPTIQI KQESGVKIIT QQVQPSKILP KPVTATLPTS
SNSPIMVVSS NGAIMTTKLV TTPTGTQATY TRPTVSPSIG RMAATPGAAT YVKTTSGSII
TVVPKSLATL GGKIISSNIV SGTTTKITTI PMTSKPNVIV VQKTTGKGTT IQGLPGKNVV
TTLLNAGGEK TIQTVPTGAK PAILTATRPI TKMIVTQPKG IGSTVQPAAK IIPTKIVYGQ
QGKTQVLIKP KPVTFQATVV SEQTRQLVTE TLQQASRVAE AGNSSIQEGK EEPQNYTDSS
SSSTESSQSS QDSQPVVHVI ASRRQDWSEH EIAMETSPTI IYQDVSSESQ SATSTIKALL
ELQQTTVKEK LESKPRQPTI DLSQMAVPIQ MTQEKRHSPE SPSIAVVESE LVAEYITTER
TDEGTEVAFP LLVSHRSQPQ QPSQPQRTLL QHVAQSQTAT QTSVVVKSIP ASSPGAITHI
MQQALSSHTA FTKHSEELGT EEGEVEEMDT LDPQTGLFYR SALTQSQSAK QQKLSQPPLE
QTQLQVKTLQ CFQTKQKQTI HLQADQLQHK LPQMPQLSIR HQKLTPLQQE QAQPKPDVQH
TQHPMVAKDR QLPTLMAQPP QTVVQVLAVK TTQQLPKLQQ APNQPKIYVQ PQTPQSQMSL
PASSEKQTAS QVEQPIITQG SSVTKITFEG RQPPTVTKIT GGSSVPKLTS PVTSISPIQA
SEKTAVSDIL KMSLMEAQID TNVEHMIVDP PKKALATSML TGEAGSLPST HMVVAGMANS
TPQQQKCRES CSSPSTVGSS LTTRKIDPPA VPATGQFMRI QNVGQKKAEE SPAEIIIQAI
PQYAIPCHSS SNVVVEPSGL LELNNFTSQQ LDDEETAMEQ DIDSSTEDGT EPSPSQSSAE
RS