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Aliases & Descriptions for C11orf30
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EMSY 1, 2, 5 | | FLJ90741 2 | | GL002 2 |
| | | Descriptions |
|---|
| EMSY protein 2 | | chromosome 11 open reading frame 30 2 |
|
| | Search outside databases for aliases for C11orf30 genePrevious GC identifers: GC11P075884 GC11P075882 |
Summaries for C11orf30(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: EMSY_HUMAN, Q7Z589Function: 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 BRCA2Gene Wiki entry for C11orf30 |
Genomic Location for C11orf30
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the C11orf30 gene 
Entrez Gene cytogenetic band: 11q13.5 Ensembl cytogenetic band: 11q13.5 HGNC cytogenetic band: 11q13.5C11orf30 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P075833:
(about GC identifiers)
Start:
|
75,833,717 bp from pter |
End:
|
75,940,237 bp from pter |
Size:
|
106,521 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000011.8 NT_033927.7
| Proteins for C11orf30
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: EMSY_HUMAN, Q7Z589 (See
protein sequence)Recommended Name: Protein EMSY Size: 1322 amino acids; 141468 Da
Subunit: Homodimer. Interacts with the transactivation domain of BRCA2. Interacts with the chromoshadow domain of CBX1 and with ZMYND11. Does not interact with CBX3 or CBX5
Subcellular location: Nucleus. Note=Localizes to DNA damage markers in irradiated cells, suggesting that it participates in DNA repair process
Miscellaneous: Was named EMSY by PubMed:14651845 because the protein sequence contains the word 'SISTER', after the first author's sister, who is a breast cancer nurse
PDB structures from and Proteopedia :1UTU (3D)
 1UZ3 (3D)
 2FMM (3D)
 
Secondary accessions: Q4G109 Q8NBU6 Q8TE50 Q9H8I9 Q9NRH0Alternative splicing: 3 isoforms: Q7Z589-1 Q7Z589-2 Q7Z589-3 Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_064578.2
ENSEMBL proteins: ENSP00000344688 ENSP00000334130 ENSP00000377102
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- | About this table
Antibodies for C11orf30: Assays for C11orf30: | Protein
Domains/ Families for C11orf30(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q7Z589
ProtoNet protein and cluster: Q7Z589 UniProtKB/Swiss-Prot: EMSY_HUMAN, Q7Z589Similarity: Contains 1 ENT (EMSY N-terminal) domain | Gene Function for C11orf30
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020193
Applied Biosystems Silencer® siRNAs for C11orf30
Sigma-Aldrich siRNA for C11orf30  Sigma-Aldrich shRNA Panels and shRNA for C11orf30  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_020193                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_020193                                  untagged cDNA clones in CMV expression vector (see all 2): BC021688 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_020193
UniProtKB/Swiss-Prot: EMSY_HUMAN, Q7Z589Function: 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 | Pathways & Interactions for C11orf30
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for C11orf30 
4 Interacting proteins for C11orf30 (ENSP000003341303) via UniProtKB, MINT, and/or STRINGAbout this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for C11orf30(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for C11orf30
|
Transcripts for C11orf30(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020193
Sigma-Aldrich siRNA for C11orf30  Sigma-Aldrich shRNA Panels and shRNA for C11orf30  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_020193 REFSEQ mRNAs for C11orf30 gene: NM_020193.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_020193               OriGene GFP tagged cDNA clone in CMV expression vector: NM_020193                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_020193                                  untagged cDNA clones in CMV expression vector (see all 2): BC021688  Additional cDNA sequence: AF226047.1 AJ430203.1 AK023651.1 AK125114.1 AK126030.1 AK300400.1 AK304043.1 AK304106.1 AK309621.1 AY070433.1 BC021688.1 BC029375.1 BC033404.1 BC117265.1 BC143370.1 BC143374.1 BC143376.1 BX647398.1 CR609463.1 12 DOTS entries: DT.211641 DT.102828044 DT.95197020 DT.95366490 DT.105638 DT.430271 DT.101966512 DT.101971716 DT.40113811 DT.95228372 DT.97858752 DT.92421799 24/188 AceView cDNA sequences (see all 188
):N95747 AA770420 AI222009 AI091396 W47416 AA279671 AA682866 CR609463 CD629917 BX109175 CD629925 BQ025319 BC029375 BQ025646 CK821861 AA456413 CK821862 BM714176 AI742062 AA970698 BX089439 AK023651 BM470624 R23009
highest scoring ESTs for C11orf30:AA075423 AA393123 AA399571 AA411901 AA489086 AA705180 AA722931 AA730993 AA770420 AA811588 Unigene Cluster for C11orf30: Chromosome 11 open reading frame 30 Hs.352588 [show with all ESTs]Unigene Representative Sequence: NM_020193
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for C11orf30 (see all 7
)
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · | |
| SP1: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 19b | ^ | 20a | · | 20b | ^ | 21 | ^ | 22a | · | 22b | · | 22c | |
| SP1: | - |   | |   | |   | - |   | |   | |   | |   | |
| SP2: | - |   | |   | |   | - |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | - |   | - |   | - |   | - |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for C11orf30
3 Ensembl transcripts including schematic representations: ENST00000343878
ENST00000334736
ENST00000393457
|
Expression for C11orf30
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| C11orf30 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for C11orf30
1 / 2 / 3 15 probe-sets matching C11orf30 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GTGGCCAAAG
SOURCE GeneReport for Unigene cluster: Hs.352588
|
Orthologs for C11orf30
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for C11orf30 gene from 5/7 species (see all 7
)
About this table Species with no ortholog for C11orf30
ENSEMBL Gene Tree for C11orf30 | Paralogs for C11orf30(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for C11orf30(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for C11orf30 (up to first 250kb)
|
Disorders & Mutations for C11orf30
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 608574
UniProtKB/Swiss-Prot: EMSY_HUMAN, Q7Z589
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 valueHuman Genome Epidemiology Navigator: C11orf30 (2 documents)
|
Medical News for C11orf30(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for C11orf30 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/20 PubMed articles for C11orf30 gene (see all 20
):- Binding of EMSY to HP1beta: implications for recruitment of HP1beta and BS69. (PubMed id 15947784)1, 3, 4 Ekblad C.M.S.... Itzhaki L.S. (2005)
- EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. (PubMed id 14651845)1, 3, 4 Hughes-Davies L.... Kouzarides T. (2003)
- Crystal structure of the HP1-EMSY complex reveals an unusual mode of HP1 binding. (PubMed id 16615912)3, 4 Huang Y.... Xu R.-M. (2006)
- Crystal structure of the ENT domain of human EMSY. (PubMed id 15978617)3, 4 Chavali G.B.... Doherty A.J. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)3, 4 Beausoleil S.A....Gygi S.P. (2004)
- Amplification of EMSY, a novel oncogene on 11q13, in high grade ovarian surface epithelial carcinomas. (PubMed id 16236351)1, 3 Brown L.A....Huntsman D. (2006)
- Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PubMed id 18950845)3 Vega A....Carracedo A. (2009)
- Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer. (PubMed id 19124506)3 Mavaddat N....Pharoah P.D. (2009)
|
Search for C11orf30
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing C11orf30
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing C11orf30
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C11orf30(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for C11orf30(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for C11orf30:

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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
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