MXI1

Identity

HGNC	MXI1
Location	10q24-25
Location_base_pair	Starts at 111959979 and ends at 112037113 bp from pter ( according to hg18-Mar_2006).

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	MXI1   7534
Entrez_Gene	MXI1  4601  MAX interactor 1
	Cards
Atlas	MXI1ID209
GeneCards	MXI1
Ensembl	MXI1 [Search_View]   ENSG00000119950 [Gene_View]  MXI1 [Vega]
Genatlas	MXI1
GeneLynx	MXI1
eGenome	MXI1
euGene	4601
	Genomic and cartography
GoldenPath	MXI1  -     chr10:111959979-112037113 +  10q24-q25   [Description]    (hg18-Mar_2006)
Ensembl	MXI1 - 10q24-q25 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	MXI1
	Gene and transcription
Genbank	AA640393 [ ENTREZ ]
Genbank	AA854855 [ ENTREZ ]
Genbank	AI373426 [ ENTREZ ]
Genbank	AI580132 [ ENTREZ ]
Genbank	AK307090 [ ENTREZ ]
RefSeq	NM_001008541 [ SRS ]    NM_001008541 [ ENTREZ ]
RefSeq	NM_005962 [ SRS ]    NM_005962 [ ENTREZ ]
RefSeq	NM_130439 [ SRS ]    NM_130439 [ ENTREZ ]
RefSeq	AC_000053 [ SRS ]    AC_000053 [ ENTREZ ]
RefSeq	AC_000142 [ SRS ]    AC_000142 [ ENTREZ ]
RefSeq	NC_000010 [ SRS ]    NC_000010 [ ENTREZ ]
RefSeq	NT_030059 [ SRS ]    NT_030059 [ ENTREZ ]
RefSeq	NW_001838006 [ SRS ]    NW_001838006 [ ENTREZ ]
RefSeq	NW_924884 [ SRS ]    NW_924884 [ ENTREZ ]
CCDS	MXI1 CCDS - NCBI
AceView	MXI1 AceView - NCBI
Unigene	Hs.602078 [ SRS ]    Hs.602078 [ NCBI ]     HS602078 [ spliceNest ]
Fast-db	16720 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P50539 [ SRS]    P50539 [ EXPASY ]     P50539 [ INTERPRO ]     P50539 [ UNIPROT ] P50539 [ VarSplice ]
Prosite	PS50888 HLH [ SRS ]    PS50888 HLH [ Expasy ]
Interpro	IPR001092 HLH_basic [ SRS ]    IPR001092 HLH_basic [ EBI ]
Interpro	IPR011598 HLH_DNA_bd [ SRS ]    IPR011598 HLH_DNA_bd [ EBI ]
CluSTr	P50539
Pfam	PF00010 HLH [ SRS ]    PF00010 HLH [ Sanger ]    pfam00010 [ NCBI-CDD ]
Smart	SM00353 HLH [EMBL]
Blocks	P50539
HPRD	02486
	Protein Interaction databases
DIP	P50539
IntAct	P50539
	Polymorphism : SNP, mutations, diseases
OMIM	176807;600020    [ map ]
GENECLINICS	176807;600020
SNP	MXI1 [dbSNP-NCBI]
SNP	NM_001008541 [SNP-NCI]
SNP	NM_005962 [SNP-NCI]
SNP	NM_130439 [SNP-NCI]
SNP	MXI1 [GeneSNPs - Utah]  MXI1] [HGBASE - SRS]
HAPMAP	MXI1 [HAPMAP]
COSMIC	MXI1 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	MXI1
Genetic Association	MXI1
CDC HuGE	MXI1
	General knowledge
Family Browser	MXI1 [UCSC Family Browser]
SOURCE	NM_001008541
SOURCE	NM_005962
SOURCE	NM_130439
SMD	Hs.602078
SAGE	Hs.602078
GO	DNA binding [Amigo]  DNA binding
GO	transcription corepressor activity [Amigo]  transcription corepressor activity
GO	nucleus [Amigo]  nucleus
GO	nucleus [Amigo]  nucleus
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	negative regulation of cell proliferation [Amigo]  negative regulation of cell proliferation
GO	transcription regulator activity [Amigo]  transcription regulator activity
GO	cytoplasmic sequestering of transcription factor [Amigo]  cytoplasmic sequestering of transcription factor
GO	regulation of transcription [Amigo]  regulation of transcription
PubGene	MXI1
TreeFam	MXI1
CTD	4601 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	MXI1 Related clones (RZPD - Berlin)
	PubMed
PubMed	30 Pubmed reference(s) in Entrez

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	12-1999	Niels B Atkin

Citation

This paper should be referenced as such :

Atkin NB . MXI1. Atlas Genet Cytogenet Oncol Haematol. December 1999 . URL : http://AtlasGeneticsOncology.org/Genes/MXI1ID209.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sun Nov 9 19:44:08 2008