| Written | 1999-12 | Niels B Atkin |
| Department of Cancer Research, Mount Vernon Hospital, Northwood, Middlesex, UK |
| Identity |
| HGNC (Hugo) | MXI1 |
| HGNC Alias symb | MXD2 | MAD2 | MXI | bHLHc11 |
| HGNC Previous name | MAX interacting protein 1 | MAX interactor 1 |
| LocusID (NCBI) | 4601 |
| Atlas_Id | 209 |
| Location | 10q25.2 [Link to chromosome band 10q25] |
| Location_base_pair | Starts at 110207605 and ends at 110287365 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping MXI1.png] |
| Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
| FAM107B (10p13) / MXI1 (10q25.2) | MPG (16p13.3) / MXI1 (10q25.2) | MXI1 (10q25.2) / HIF1A (14q23.2) | |
| MXI1 (10q25.2) / MXI1 (10q25.2) | MXI1 (10q25.2) / PEPD (19q13.11) | PMEL (12q13.2) / MXI1 (10q25.2) | |
| WDR6 (3p21.31) / MXI1 (10q25.2) |
| DNA/RNA |
| Description | the gene spans approximately 60 kb; 6 exons |
| Transcription | 2.6 kb mRNA; two transcription initiation sites |
| Protein |
| Description | 228 amino acids; 26 kDa; contains a basic region/helix-loop-helix/leucine zipper (B-HLH-LZ) motif that is similar to that found in Myc family |
| Expression | tissue specific; induced during cells terminal differentiation |
| Localisation | nuclear |
| Function | Mxil, discovered in 1993, is, with Mad, one of the proteins that can regulate Max, a human protein containing a basic helix-loop-helix leucine zipper (bHLH-zip) that allows the formation of cMyc-Max heterodimers and that activates transcription; Mad and Mxil may be involved in tumour suppression since they can compete with Myc proteins for the interaction with Max; Mxil normally functions to suppress cell growth: experimental induction of the gene resulted in the accumulation of cells in G2-M phase |
| Homology | belongs to the basic helix-loop-helix (bhlh) family of transcription factors |
| Mutations |
| Somatic | mutations have been described in some sporadic prostate cancers but no germline mutations were found in a study of 38 families with possible predisposition to this disease; a correlation between a polymorphic repeat in the 3' untranslated region in Mxil mRNA and regulation of its transcription and degradation has been suggested |
| Implicated in |
| Note | |
| Entity | implicated in some sporadic cases of prostate cancer and glioblastoma as a tumour suppressor gene |
| Bibliography |
| Redefinition of the coding sequence of the MXI1 gene and identification of a polymorphic repeat in the 3' non-coding region that allows the detection of loss of heterozygosity of chromosome 10q25 in glioblastomas. |
| Albarosa R, DiDonato S, Finocchiaro G |
| Human genetics. 1995 ; 95 (6) : 709-711. |
| PMID 7789959 |
| Expression of MXI1, a Myc antagonist, is regulated by Sp1 and AP2. |
| Benson LQ, Coon MR, Krueger LM, Han GC, Sarnaik AA, Wechsler DS |
| The Journal of biological chemistry. 1999 ; 274 (40) : 28794-28802. |
| PMID 10497252 |
| Mutation of the MXI1 gene in prostate cancer. |
| Eagle LR, Yin X, Brothman AR, Williams BJ, Atkin NB, Prochownik EV |
| Nature genetics. 1995 ; 9 (3) : 249-255. |
| PMID 7773287 |
| No germline mutations in the dimerization domain of MXI1 in prostate cancer clusters. The CRC/BPG UK Familial Prostate Cancer Study Collaborators. Cancer Research Campaign/British Prostate Group. |
| Edwards SM, Dearnaley DP, Ardern-Jones A, Hamoudi RA, Easton DF, Ford D, Shearer R, Dowe A, Eeles RA |
| British journal of cancer. 1997 ; 76 (8) : 992-1000. |
| PMID 9376279 |
| Two MAD tails: what the recent knockouts of Mad1 and Mxi1 tell us about the MYC/MAX/MAD network. |
| Foley KP, Eisenman RN |
| Biochimica et biophysica acta. 1999 ; 1423 (3) : M37-M47. |
| PMID 10382539 |
| Point mutations of the Mxil gene are rare in prostate cancers. |
| Kawamata N, Park D, Wilczynski S, Yokota J, Koeffler HP |
| The Prostate. 1996 ; 29 (3) : 191-193. |
| PMID 8827088 |
| Microsatellite instability and deletion analysis of chromosome 10 in human prostate cancer. |
| Lacombe L, Orlow I, Reuter VE, Fair WR, Dalbagni G, Zhang ZF, Cordon-Cardo C |
| International journal of cancer. Journal international du cancer. 1996 ; 69 (2) : 110-113. |
| PMID 8608977 |
| Mxi1 is a repressor of the c-Myc promoter and reverses activation by USF. |
| Lee TC, Ziff EB |
| The Journal of biological chemistry. 1999 ; 274 (2) : 595-606. |
| PMID 9872993 |
| Repression by the Mad(Mxi1)-Sin3 complex. |
| Schreiber-Agus N, DePinho RA |
| BioEssays : news and reviews in molecular, cellular and developmental biology. 1998 ; 20 (10) : 808-818. |
| PMID 9819568 |
| Expression, regulation and polymorphism of the mxi1 genes. |
| Shimizu E, Shirasawa H, Kodama K, Sato T, Simizu B |
| Gene. 1996 ; 176 (1-2) : 45-48. |
| PMID 8918230 |
| MXI1, a putative tumor suppressor gene, suppresses growth of human glioblastoma cells. |
| Wechsler DS, Shelly CA, Petroff CA, Dang CV |
| Cancer research. 1997 ; 57 (21) : 4905-4912. |
| PMID 9354456 |
| Mxi1, a protein that specifically interacts with Max to bind Myc-Max recognition sites. |
| Zervos AS, Gyuris J, Brent R |
| Cell. 1993 ; 72 (2) : 223-232. |
| PMID 8425219 |
| Citation |
| This paper should be referenced as such : |
| Atkin, NB |
| MXI1 (MAX interactor 1) |
| Atlas Genet Cytogenet Oncol Haematol. 1999;3(4):185-186. |
| Free journal version : [ pdf ] [ DOI ] |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ] |
|
Nervous system: Astrocytic tumors
|
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jan 1 18:56:50 CET 2021 |
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