MN1 (gene)

MN1 is a gene found on human chromosome 22, with gene map locus 22q12.3-qter.[5] Its official full name is meningioma (disrupted in balanced translocation) 1 because it is disrupted by a balanced translocation (4;22) in a meningioma.

MN1
Identifiers
AliasesMN1, MGCR, MGCR1, MGCR1-PEN, dJ353E16.2, meningioma (disrupted in balanced translocation) 1, MN1 proto-oncogene, transcriptional regulator, CEBALID
External IDsOMIM: 156100 MGI: 1261813 HomoloGene: 37620 GeneCards: MN1
Gene location (Human)
Chr.Chromosome 22 (human)[1]
Band22q12.1Start27,748,277 bp[1]
End27,801,756 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

4330

433938

Ensembl

ENSG00000169184

ENSMUSG00000070576

UniProt

Q10571

D3YWE6

RefSeq (mRNA)

NM_002430

NM_001081235

RefSeq (protein)

NP_002421

NP_001074704

Location (UCSC)Chr 22: 27.75 – 27.8 MbChr 5: 111.42 – 111.46 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

MN1 is a transcription coregulator that enhances or represses RAR/RXR-mediated gene transcription through interaction with RAC3 and p300.[6] MN1 also acts as a coactivator of the vitamin D receptor.[7]

Clinical significance

Its inactivation may be part of the cause of certain meningiomas.[5] A potential link to leukemia[8] including acute myeloid leukemia[9] has also been described.

Mutations in this gene have been associated with an atypical form of rhombencephalosynapsis.[10]

References

  1. GRCh38: Ensembl release 89: ENSG00000169184 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000070576 - 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. Lekanne Deprez RH, Riegman PH, Groen NA, Warringa UL, van Biezen NA, Molijn AC, et al. (April 1995). "Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma". Oncogene. 10 (8): 1521–8. PMID 7731706.
  6. van Wely KH, Molijn AC, Buijs A, Meester-Smoor MA, Aarnoudse AJ, Hellemons A, et al. (February 2003). "The MN1 oncoprotein synergizes with coactivators RAC3 and p300 in RAR-RXR-mediated transcription". Oncogene. 22 (5): 699–709. doi:10.1038/sj.onc.1206124. PMID 12569362. S2CID 10105930.
  7. Sutton AL, Zhang X, Ellison TI, Macdonald PN (September 2005). "The 1,25(OH)2D3-regulated transcription factor MN1 stimulates vitamin D receptor-mediated transcription and inhibits osteoblastic cell proliferation". Molecular Endocrinology. 19 (9): 2234–44. doi:10.1210/me.2005-0081. PMID 15890672.
  8. Buijs A, Sherr S, van Baal S, van Bezouw S, van der Plas D, Geurts van Kessel A, et al. (April 1995). "Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11". Oncogene. 10 (8): 1511–9. PMID 7731705.
  9. Grosveld GC (2007). "MN1, a novel player in human AML". Blood Cells, Molecules & Diseases. 39 (3): 336–9. doi:10.1016/j.bcmd.2007.06.009. PMC 2387274. PMID 17698380.
  10. Mak CC, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, et al. (December 2019). "MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis". Brain. 143 (1): 55–68. doi:10.1093/brain/awz379. PMID 31834374.

Further reading

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