MXI1 (MAX interactor 1)

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home Genes Leukemias Solid Tumors 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)

Written	1999-12	Niels B Atkin
		Department of Cancer Research, Mount Vernon Hospital, Northwood, Middlesex, UK

(Note : for Links provided by Atlas : click)

Identity

Alias_names	MAX interacting protein 1
	MAX interactor 1
Alias_symbol (synonym)	MXD2
	MAD2
	MXI
	bHLHc11
Other alias
HGNC (Hugo)	MXI1
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 hg19-Feb_2009) [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 ]

On line version : http://AtlasGeneticsOncology.org/Genes/MXI1ID209.html

External links

	Nomenclature
HGNC (Hugo)	MXI1 7534
	Cards
Atlas	MXI1ID209
Entrez_Gene (NCBI)	MXI1 4601 MAX interactor 1, dimerization protein
Aliases	MAD2; MXD2; MXI; bHLHc11
GeneCards (Weizmann)	MXI1
Ensembl hg19 (Hinxton)	ENSG00000119950 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000119950 [Gene_View] ENSG00000119950 [Sequence] chr10:110207605-110287365 [Contig_View] MXI1 [Vega]
ICGC DataPortal	ENSG00000119950
TCGA cBioPortal	MXI1
AceView (NCBI)	MXI1
Genatlas (Paris)	MXI1
WikiGenes	4601
SOURCE (Princeton)	MXI1
Genetics Home Reference (NIH)	MXI1
	Genomic and cartography
GoldenPath hg38 (UCSC)	MXI1 - chr10:110207605-110287365 + 10q25.2 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	MXI1 - 10q25.2 [Description] (hg19-Feb_2009)
GoldenPath	MXI1 - 10q25.2 [CytoView hg19] MXI1 - 10q25.2 [CytoView hg38]
ImmunoBase	ENSG00000119950
Mapping of homologs : NCBI	MXI1 [Mapview hg19] MXI1 [Mapview hg38]
OMIM	176807 600020
	Gene and transcription
Genbank (Entrez)	AA640393 AA854855 AI373426 AI580132 AK303949
RefSeq transcript (Entrez)	NM_001008541 NM_005962 NM_130439
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	MXI1
Cluster EST : Unigene	Hs.728542 [ NCBI ]
CGAP (NCI)	Hs.728542
Alternative Splicing Gallery	ENSG00000119950
Gene Expression	MXI1 [ 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]
Genevestigator	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	4601
GTEX Portal (Tissue expression)	MXI1
Human Protein Atlas	ENSG00000119950-MXI1 [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P50539 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	P50539 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P50539
Splice isoforms : SwissVar	P50539
PhosPhoSitePlus	P50539
Domaine pattern : Prosite (Expaxy)	BHLH (PS50888)
Domains : Interpro (EBI)	bHLH_dom HLH_DNA-bd_sf
Domain families : Pfam (Sanger)	HLH (PF00010)
Domain families : Pfam (NCBI)	pfam00010
Domain families : Smart (EMBL)	HLH (SM00353)
Conserved Domain (NCBI)	MXI1
DMDM Disease mutations	4601
Blocks (Seattle)	MXI1
Superfamily	P50539
Human Protein Atlas [tissue]	ENSG00000119950-MXI1 [tissue]
Peptide Atlas	P50539
HPRD	02486
IPI	IPI00301031 IPI00552166 IPI00107617 IPI00646509 IPI00643660 IPI00412717 IPI00642612
	Protein Interaction databases
DIP (DOE-UCLA)	P50539
IntAct (EBI)	P50539
FunCoup	ENSG00000119950
BioGRID	MXI1
STRING (EMBL)	MXI1
ZODIAC	MXI1
	Ontologies - Pathways
QuickGO	P50539
Ontology : AmiGO	negative regulation of transcription by RNA polymerase II RNA polymerase II regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription repressor activity, RNA polymerase II-specific DNA binding transcription corepressor activity protein binding nucleus nucleolus cytosol negative regulation of cell proliferation cytoplasmic sequestering of transcription factor protein dimerization activity RNA polymerase II transcription factor complex
Ontology : EGO-EBI	negative regulation of transcription by RNA polymerase II RNA polymerase II regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription repressor activity, RNA polymerase II-specific DNA binding transcription corepressor activity protein binding nucleus nucleolus cytosol negative regulation of cell proliferation cytoplasmic sequestering of transcription factor protein dimerization activity RNA polymerase II transcription factor complex
NDEx Network	MXI1
Atlas of Cancer Signalling Network	MXI1
Wikipedia pathways	MXI1
	Orthology - Evolution
OrthoDB	4601
GeneTree (enSembl)	ENSG00000119950
Phylogenetic Trees/Animal Genes : TreeFam	MXI1
HOGENOM	P50539
Homologs : HomoloGene	MXI1
Homology/Alignments : Family Browser (UCSC)	MXI1
	Gene fusions - Rearrangements
Fusion : FusionGDB	12470 22923 22924 22925 22926 22927 22928 27638 27976 34860
Fusion : Fusion_Hub	ADCY9--MXI1 AOC3--MXI1 ARFRP1--MXI1 ATG5--MXI1 BUB3--MXI1 C1ORF63--MXI1 CHST15--MXI1 CKS2--MXI1 CSTF3--MXI1 DNMT1--MXI1 DPM2--MXI1 EBF1--MXI1 ECE1--MXI1 EXD3--MXI1 FAM107B--MXI1
	FHL1--MXI1 GET4--MXI1 GPHN--MXI1 HIF1AN--MXI1 HNRNPU--MXI1 IGH@--MXI1 LBR--MXI1 MAGI1--MXI1 MAGI2--MXI1 MAPT--MXI1 MFSD3--MXI1 MPG--MXI1 MXI1--ADD3 MXI1--AFP MXI1--C10ORF57
	MXI1--CPEB3 MXI1--HIF1A MXI1--KLK3 MXI1--LAPTM5 MXI1--MXI1 MXI1--PEPD MXI1--PKM MXI1--SGMS1 MXI1--TCEAL3 MXI1--TXNL1 MXI1--UBE2G2 NOM1--MXI1 PFKFB3--MXI1 PHF15--MXI1 PLEC--MXI1
	PMEL--MXI1 POLR2F--MXI1 PPP1R12C--MXI1 SCUBE1--MXI1 SERINC2--MXI1 SH2B2--MXI1 SHOC2--MXI1 SMC3--MXI1 SRGAP1--MXI1 STAC2--MXI1 STOX2--MXI1 TGM2--MXI1 USP54--MXI1 WDR6--MXI1 ZEB2--MXI1
	ZNF174--MXI1 ZZZ3--MXI1
Fusion : Quiver	MXI1
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	MXI1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	MXI1
dbVar	MXI1
ClinVar	MXI1
1000_Genomes	MXI1
Exome Variant Server	MXI1
ExAC (Exome Aggregation Consortium)	ENSG00000119950
GNOMAD Browser	ENSG00000119950
Varsome Browser	MXI1
Genetic variants : HAPMAP	4601
Genomic Variants (DGV)	MXI1 [DGVbeta]
DECIPHER	MXI1 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	MXI1
	Mutations
ICGC Data Portal	MXI1
TCGA Data Portal	MXI1
Broad Tumor Portal	MXI1
OASIS Portal	MXI1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	MXI1 [overview] [genome browser] [tissue] [distribution]
Somatic Mutations in Cancer : COSMIC3D	MXI1
Mutations and Diseases : HGMD	MXI1
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
BioMuta	search 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)
intoGen	MXI1
NCG5 (London)	MXI1
Cancer3D	MXI1(select the gene name)
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	176807 600020
Orphanet
DisGeNET	MXI1
Medgen	MXI1
Genetic Testing Registry	MXI1
NextProt	P50539 [Medical]
TSGene	4601
GENETests	MXI1
Target Validation	MXI1
Huge Navigator	MXI1 [HugePedia]
snp3D : Map Gene to Disease	4601
BioCentury BCIQ	MXI1
ClinGen	MXI1
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	4601
Chemical/Pharm GKB Gene	PA31335
Clinical trial	MXI1
	Miscellaneous
canSAR (ICR)	MXI1 (select the gene name)
DataMed Index	MXI1
	Probes
	Litterature
PubMed	63 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	MXI1
EVEX	MXI1
GoPubMed	MXI1
iHOP	MXI1

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

Search in all EBI NCBI

indexed on : Wed Nov 13 21:41:23 CET 2019

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.