EMSY

EMSY is a protein that in humans is encoded by the EMSY gene.[5]

EMSY
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEMSY, GL002, C11orf30, BRCA2 interacting transcriptional repressor, EMSY transcriptional repressor, BRCA2 interacting
External IDsOMIM: 608574 MGI: 1924203 HomoloGene: 32465 GeneCards: EMSY
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11q13.5Start76,444,923 bp[1]
End76,553,025 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

56946

233545

Ensembl

ENSG00000158636

ENSMUSG00000035401

UniProt

Q7Z589

Q8BMB0

RefSeq (mRNA)

NM_001300942
NM_001300943
NM_001300944
NM_020193

NM_172280
NM_001381867
NM_001381868
NM_001381869
NM_001381870

RefSeq (protein)

NP_001287871
NP_001287872
NP_001287873
NP_064578

NP_758484
NP_001368796
NP_001368797
NP_001368798
NP_001368799

Location (UCSC)Chr 11: 76.44 – 76.55 MbChr 7: 98.59 – 98.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance

EMSY has been shown to associate with atopy and susceptibility to poly-sensitisation.[6]

Interactions

EMSY has been shown to interact with ZMYND11,[7] BRCA2[7] and CBX1.[7]

References

  1. GRCh38: Ensembl release 89: ENSG00000158636 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000035401 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: C11orf30 chromosome 11 open reading frame 30".
  6. Amaral, A. F. S.; Minelli, C.; Guerra, S.; Wjst, M.; Probst-Hensch, N.; Pin, I.; Svanes, C.; Janson, C.; Heinrich, J.; Jarvis, D. L. (March 2015). "The locus C11orf30 increases susceptibility to poly-sensitization". Allergy. 70 (3): 328–333. doi:10.1111/all.12557. hdl:10044/1/21574. PMID 25546184. S2CID 25960081.
  7. Hughes-Davies L, Huntsman D, Ruas M, Fuks F, Bye J, Chin SF, Milner J, Brown LA, Hsu F, Gilks B, Nielsen T, Schulzer M, Chia S, Ragaz J, Cahn A, Linger L, Ozdag H, Cattaneo E, Jordanova ES, Schuuring E, Yu DS, Venkitaraman A, Ponder B, Doherty A, Aparicio S, Bentley D, Theillet C, Ponting CP, Caldas C, Kouzarides T (Nov 2003). "EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer". Cell. 115 (5): 523–35. doi:10.1016/S0092-8674(03)00930-9. PMID 14651845. S2CID 18911371.

Further reading

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.