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MXI1 (MAX interactor 1)

Identity

HGNC (Hugo) MXI1
LocusID (NCBI) 4601
Location 10q24-25
Location_base_pair Starts at 111969989 and ends at 112047123 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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

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

External links

Nomenclature
HGNC (Hugo)MXI1   7534
Entrez_Gene (NCBI)MXI1  4601  MAX interactor 1
Cards
AtlasMXI1ID209
GeneCards (Weizmann)MXI1
Ensembl (Hinxton)ENSG00000119950 [Gene_View]  chr10:111969989-112047123 [Contig_View]  MXI1 [Vega]
AceView (NCBI)MXI1
Genatlas (Paris)MXI1
euGene (Indiana)4601
SOURCE (Stanford)NM_001008541 NM_005962 NM_130439
Genomic and cartography
GoldenPath (UCSC)MXI1  -     chr10:111969989-112047123 +  10q24-q25   [Description]    (hg19-Feb_2009)
EnsemblMXI1 - 10q24-q25 [CytoView]
Mapping of homologs : NCBIMXI1 [Mapview]
OMIM176807   600020   
Gene and transcription
Genbank (Entrez)AA640393 AA854855 AI373426 AI580132 AK303949
RefSeq transcript (SRS)NM_001008541 NM_005962 NM_130439
RefSeq transcript (Entrez)NM_001008541 NM_005962 NM_130439
RefSeq genomic (SRS)AC_000142 NC_000010 NG_012103 NT_030059 NW_001838006
RefSeq genomic (Entrez)AC_000142 NC_000010 NG_012103 NT_030059 NW_001838006
Consensus coding sequences : CCDS (NCBI)MXI1
Cluster EST : UnigeneHs.731767 [ SRS ] Hs.731767 [ NCBI ]
Alternative Splicing : Fast-db (Paris)16720
Alternative Splicing GalleryENSG00000119950
Gene ExpressionMXI1 [ NCBI-GEO ]   MXI1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50539 (SRS) P50539 (Uniprot)
With graphics : InterProP50539
Splice isoforms : SwissVarP50539(Swissvar)
Domaine pattern : Prosite (SRS)HLH (PS50888)   
Domaine pattern : Prosite (Expaxy)HLH (PS50888)   
Domains : Interpro (SRS)HLH_DNA-bd   
Domains : Interpro (EBI)HLH_DNA-bd   
Related proteins : CluSTrP50539
Domain families : Pfam (SRS)HLH (PF00010)   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Blocks (Seattle)P50539
Human Protein AtlasENSG00000119950
HPRD02486
IPIIPI00301031   IPI00552166   IPI00107617   IPI00646509   IPI00643660   IPI00412717   IPI00642612   
Protein Interaction databases
DIP (DOE-UCLA)P50539
IntAct (EBI)P50539
FunCoupENSG00000119950
REACTOMEMXI1
BioGRIDMXI1
InParanoidP50539
Interologous Interaction database P50539
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MXI1
SNP (GeneSNP Utah)MXI1
SNP : HGBaseMXI1
Genetic variants : HAPMAPMXI1
Somatic Mutations in Cancer : COSMICMXI1 
CONAN: Copy Number AnalysisMXI1 
Mutations and Diseases : HGMDMXI1
OMIM176807    600020   
GENETests176807    600020   
Disease Genetic AssociationMXI1
Huge Navigator MXI1 [HugePedia]  MXI1 [HugeCancerGEM]
Genomic VariantsMXI1
snp3D : Map Gene to Disease4601
General knowledge
Homologs : HomoloGeneMXI1
Homology/Alignments : Family Browser (UCSC)MXI1
Phylogenetic Trees/Animal Genes : TreeFamMXI1
Chemical/Protein Interactions : CTD4601
Chemical/Pharm GKB GenePA31335
Clinical trialMXI1
Cancer Resource (Charite)ENSG00000119950
Ontology : AmiGODNA binding  transcription corepressor activity  nucleus  regulation of transcription, DNA-dependent  negative regulation of cell proliferation  cytoplasmic sequestering of transcription factor  
Ontology : EGO-EBIDNA binding  transcription corepressor activity  nucleus  regulation of transcription, DNA-dependent  negative regulation of cell proliferation  cytoplasmic sequestering of transcription factor  
Other databases
Probes
Probes : ImagenesMXI1 Related clones (RZPD - Berlin)
Litterature
PubMed42 Pubmed reference(s) in Entrez
PubGeneMXI1
iHOPMXI1

Bibliography

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
 
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
 
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
 
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
 
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
 
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
 
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
 
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 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
 
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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written12-1999Niels B Atkin

Citation

This paper should be referenced as such :
Atkin NB . MXI1 (MAX interactor 1). Atlas Genet Cytogenet Oncol Haematol. December 1999 .
URL : http://AtlasGeneticsOncology.org/Genes/MXI1ID209.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37556/1/12-1999-MXI1ID209.pdf   [ Bibliographic record ]

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indexed on : Sat Apr 28 15:05:20 CEST 2012

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