MXI1 (MAX interactor 1)

1999-12-01   Niels B Atkin 

Department of Cancer Research, Mount Vernon Hospital, Northwood, Middlesex, UK

Identity

HGNC
LOCATION
10q25.2
LOCUSID
ALIAS
MAD2,MXD2,MXI,bHLHc11
FUSION GENES

DNA/RNA

Description

the gene spans approximately 60 kb; 6 exons

Transcription

2.6 kb mRNA; two transcription initiation sites

Proteins

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

Entity name
implicated in some sporadic cases of prostate cancer and glioblastoma as a tumour suppressor gene

Bibliography

Pubmed IDLast YearTitleAuthors
77899591995Redefinition 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 et al
104972521999Expression of MXI1, a Myc antagonist, is regulated by Sp1 and AP2.Benson LQ et al
77732871995Mutation of the MXI1 gene in prostate cancer.Eagle LR et al
93762791997No 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 et al
103825391999Two MAD tails: what the recent knockouts of Mad1 and Mxi1 tell us about the MYC/MAX/MAD network.Foley KP et al
88270881996Point mutations of the Mxil gene are rare in prostate cancers.Kawamata N et al
86089771996Microsatellite instability and deletion analysis of chromosome 10 in human prostate cancer.Lacombe L et al
98729931999Mxi1 is a repressor of the c-Myc promoter and reverses activation by USF.Lee TC et al
98195681998Repression by the Mad(Mxi1)-Sin3 complex.Schreiber-Agus N et al
89182301996Expression, regulation and polymorphism of the mxi1 genes.Shimizu E et al
93544561997MXI1, a putative tumor suppressor gene, suppresses growth of human glioblastoma cells.Wechsler DS et al
84252191993Mxi1, a protein that specifically interacts with Max to bind Myc-Max recognition sites.Zervos AS et al

Other Information

Locus ID:

NCBI: 4601
MIM: 600020
HGNC: 7534
Ensembl: ENSG00000119950

Variants:

dbSNP: 4601
ClinVar: 4601
TCGA: ENSG00000119950
COSMIC: MXI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119950ENST00000239007P50539
ENSG00000119950ENST00000332674P50539
ENSG00000119950ENST00000361248P50539
ENSG00000119950ENST00000361248A0A0S2Z3X5
ENSG00000119950ENST00000369612P50539
ENSG00000119950ENST00000369612A0A0S2Z3Y0
ENSG00000119950ENST00000393134B1ANN8
ENSG00000119950ENST00000442296F6WCI9
ENSG00000119950ENST00000453116F6U3F6
ENSG00000119950ENST00000460667A0A494C0I8
ENSG00000119950ENST00000484030A0A494C0W2
ENSG00000119950ENST00000650644P50539
ENSG00000119950ENST00000650644A0A0S2Z3Y0
ENSG00000119950ENST00000650696P50539
ENSG00000119950ENST00000650696A0A0S2Z3Y0
ENSG00000119950ENST00000650752A0A494BZS3
ENSG00000119950ENST00000650810P50539
ENSG00000119950ENST00000650810A0A0S2Z3Y0
ENSG00000119950ENST00000650843P50539
ENSG00000119950ENST00000650843A0A0S2Z3Y0
ENSG00000119950ENST00000650900P50539
ENSG00000119950ENST00000650900A0A0S2Z3Y0
ENSG00000119950ENST00000650952P50539
ENSG00000119950ENST00000650952A0A0S2Z3Y0
ENSG00000119950ENST00000651004P50539
ENSG00000119950ENST00000651004A0A0S2Z3Y0
ENSG00000119950ENST00000651109A0A494BZS3
ENSG00000119950ENST00000651112A0A494C1C1
ENSG00000119950ENST00000651167P50539
ENSG00000119950ENST00000651167A0A0S2Z3Y0
ENSG00000119950ENST00000651225A0A494C1P8
ENSG00000119950ENST00000651318A0A494BZS3
ENSG00000119950ENST00000651467P50539
ENSG00000119950ENST00000651467A0A0S2Z3Y0
ENSG00000119950ENST00000651495P50539
ENSG00000119950ENST00000651495A0A0S2Z3Y0
ENSG00000119950ENST00000651516P50539
ENSG00000119950ENST00000651516A0A0S2Z3Y0
ENSG00000119950ENST00000651557A0A0S2Z429
ENSG00000119950ENST00000651613P50539
ENSG00000119950ENST00000651613A0A0S2Z3Y0
ENSG00000119950ENST00000651811P50539
ENSG00000119950ENST00000651811A0A0S2Z3Y0
ENSG00000119950ENST00000651848P50539
ENSG00000119950ENST00000651848A0A0S2Z3Y0
ENSG00000119950ENST00000651866P50539
ENSG00000119950ENST00000651866A0A0S2Z3Y0
ENSG00000119950ENST00000652028P50539
ENSG00000119950ENST00000652028A0A0S2Z3Y0
ENSG00000119950ENST00000652243A0A494BZS3
ENSG00000119950ENST00000652323A0A494C0W2
ENSG00000119950ENST00000652463P50539
ENSG00000119950ENST00000652463A0A0S2Z3Y0
ENSG00000119950ENST00000652506P50539
ENSG00000119950ENST00000652506A0A0S2Z3Y0
ENSG00000119950ENST00000652604P50539
ENSG00000119950ENST00000652604A0A0S2Z3X5
ENSG00000119950ENST00000652649A0A494C1P8

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
174524512007Induction of Mxi1-SR alpha by FOXO3a contributes to repression of Myc-dependent gene expression.86
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
232548552013miR-24-3p and miR-27a-3p promote cell proliferation in glioma cells via cooperative regulation of MXI1.45
161261742005Six lysine residues on c-Myc are direct substrates for acetylation by p300.23
243766322013MicroRNA-155 promotes glioma cell proliferation via the regulation of MXI1.23
118757182002Mxi1 inhibits the proliferation of U87 glioma cells through down-regulation of cyclin B1 gene expression.13
192547102009HIF-1alpha induces MXI1 by alternate promoter usage in human neuroblastoma cells.9
171026212006Identification and analysis of tumor suppressor loci at chromosome 10q23.3-10q25.3 in medulloblastoma.7
175777842007Expression and mutation analysis of genes that encode the Myc antagonists Mad1, Mxi1 and Rox in acute leukaemia.7
244038582013N-Myc differentially regulates expression of MXI1 isoforms in neuroblastoma.7

Citation

Niels B Atkin

MXI1 (MAX interactor 1)

Atlas Genet Cytogenet Oncol Haematol. 1999-12-01

Online version: http://atlasgeneticsoncology.org/gene/209/mxi1