Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

MXI1 (MAX interactor 1)

Written1999-12Niels B Atkin
Department of Cancer Research, Mount Vernon Hospital, Northwood, Middlesex, UK

(Note : for Links provided by Atlas : click)

Identity

HGNC (Hugo) MXI1
LocusID (NCBI) 4601
Atlas_Id 209
Location 10q25.2  [Link to chromosome band 10q25]
Location_base_pair Starts at 111969989 and ends at 112047123 bp from pter ( according to hg19-Feb_2009)  [Mapping MXI1.png]
Fusion genes
(updated 2016)
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 ]
On line version : http://AtlasGeneticsOncology.org/Genes/MXI1ID209.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ]
  Nervous system: Astrocytic tumors

External links

Nomenclature
HGNC (Hugo)MXI1   7534
Cards
AtlasMXI1ID209
Entrez_Gene (NCBI)MXI1  4601  MAX interactor 1, dimerization protein
AliasesMAD2; MXD2; MXI; bHLHc11
GeneCards (Weizmann)MXI1
Ensembl hg19 (Hinxton)ENSG00000119950 [Gene_View]  chr10:111969989-112047123 [Contig_View]  MXI1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000119950 [Gene_View]  chr10:111969989-112047123 [Contig_View]  MXI1 [Vega]
ICGC DataPortalENSG00000119950
TCGA cBioPortalMXI1
AceView (NCBI)MXI1
Genatlas (Paris)MXI1
WikiGenes4601
SOURCE (Princeton)MXI1
Genomic and cartography
GoldenPath hg19 (UCSC)MXI1  -     chr10:111969989-112047123 +  10q24-q25   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MXI1  -     10q24-q25   [Description]    (hg38-Dec_2013)
EnsemblMXI1 - 10q24-q25 [CytoView hg19]  MXI1 - 10q24-q25 [CytoView hg38]
Mapping of homologs : NCBIMXI1 [Mapview hg19]  MXI1 [Mapview hg38]
OMIM176807   600020   
Gene and transcription
Genbank (Entrez)AA640393 AA854855 AI373426 AI580132 AK303949
RefSeq transcript (Entrez)NM_001008541 NM_005962 NM_130439
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_012103 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)MXI1
Cluster EST : UnigeneHs.728542 [ NCBI ]
CGAP (NCI)Hs.728542
Alternative Splicing GalleryENSG00000119950
Gene ExpressionMXI1 [ NCBI-GEO ]   MXI1 [ EBI - ARRAY_EXPRESS ]   MXI1 [ SEEK ]   MXI1 [ MEM ]
Gene Expression Viewer (FireBrowse)MXI1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4601
GTEX Portal (Tissue expression)MXI1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50539 (Uniprot)
NextProtP50539  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP50539
Splice isoforms : SwissVarP50539 (Swissvar)
PhosPhoSitePlusP50539
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
DMDM Disease mutations4601
Blocks (Seattle)MXI1
SuperfamilyP50539
Human Protein AtlasENSG00000119950
Peptide AtlasP50539
HPRD02486
IPIIPI00301031   IPI00552166   IPI00107617   IPI00646509   IPI00643660   IPI00412717   IPI00642612   
Protein Interaction databases
DIP (DOE-UCLA)P50539
IntAct (EBI)P50539
FunCoupENSG00000119950
BioGRIDMXI1
STRING (EMBL)MXI1
ZODIACMXI1
Ontologies - Pathways
QuickGOP50539
Ontology : AmiGODNA binding  transcription corepressor activity  protein binding  nucleus  nucleolus  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  negative regulation of cell proliferation  cytoplasmic sequestering of transcription factor  protein dimerization activity  negative regulation of nucleic acid-templated transcription  
Ontology : EGO-EBIDNA binding  transcription corepressor activity  protein binding  nucleus  nucleolus  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  negative regulation of cell proliferation  cytoplasmic sequestering of transcription factor  protein dimerization activity  negative regulation of nucleic acid-templated transcription  
NDEx NetworkMXI1
Atlas of Cancer Signalling NetworkMXI1
Wikipedia pathwaysMXI1
Orthology - Evolution
OrthoDB4601
GeneTree (enSembl)ENSG00000119950
Phylogenetic Trees/Animal Genes : TreeFamMXI1
Homologs : HomoloGeneMXI1
Homology/Alignments : Family Browser (UCSC)MXI1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMXI1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MXI1
dbVarMXI1
ClinVarMXI1
1000_GenomesMXI1 
Exome Variant ServerMXI1
ExAC (Exome Aggregation Consortium)MXI1 (select the gene name)
Genetic variants : HAPMAP4601
Genomic Variants (DGV)MXI1 [DGVbeta]
Mutations
ICGC Data PortalMXI1 
TCGA Data PortalMXI1 
Broad Tumor PortalMXI1
OASIS PortalMXI1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMXI1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MXI1
DgiDB (Drug Gene Interaction Database)MXI1
DoCM (Curated mutations)MXI1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MXI1 (select a term)
intoGenMXI1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)10:111969989-112047123  ENSG00000119950
CONAN: Copy Number AnalysisMXI1 
Mutations and Diseases : HGMDMXI1
OMIM176807    600020   
MedgenMXI1
Genetic Testing Registry MXI1
NextProtP50539 [Medical]
TSGene4601
GENETestsMXI1
Huge Navigator MXI1 [HugePedia]
snp3D : Map Gene to Disease4601
BioCentury BCIQMXI1
ClinGenMXI1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4601
Chemical/Pharm GKB GenePA31335
Clinical trialMXI1
Miscellaneous
canSAR (ICR)MXI1 (select the gene name)
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMXI1
EVEXMXI1
GoPubMedMXI1
iHOPMXI1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 19 19:29:17 CEST 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.