Human Gene MXI1 (ENST00000652604.1) Description and Page Index
  Description: Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX. (from UniProt P50539)
RefSeq Summary (NM_001008541): Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000652604.1
Gencode Gene: ENSG00000119950.21
Transcript (Including UTRs)
   Position: hg38 chr10:110,227,183-110,286,478 Size: 59,296 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr10:110,228,224-110,284,987 Size: 56,764 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:110,227,183-110,286,478)mRNA (may differ from genome)Protein (182 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIneXtProtPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MXI1_HUMAN
DESCRIPTION: RecName: Full=Max-interacting protein 1; Short=Max interactor 1; AltName: Full=Class C basic helix-loop-helix protein 11; Short=bHLHc11;
FUNCTION: Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX.
SUBUNIT: Interacts with SMC3 (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with RNF17 (By similarity).
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle.
DISEASE: Defects in MXI1 may be a cause of susceptibility to prostate cancer (PC) [MIM:176807]. It is a malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MXI1ID209.html";

-  MalaCards Disease Associations
  MalaCards Gene Search: MXI1
Diseases sorted by gene-association score: prostate cancer* (748), neurofibrosarcoma* (405), malignant peripheral nerve sheath tumor* (400), breast adenoma (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D004997 Ethinyl Estradiol
  • D013749 Tetrachlorodibenzodioxin
  • C049325 1,2-dithiol-3-thione
  • C495626 14-deoxy-11,12-didehydroandrographolide
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C021296 2-ethoxyethanol
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D000643 Ammonium Chloride
  • D001564 Benzo(a)pyrene
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 44.62 RPKM in Artery - Tibial
Total median expression: 1025.49 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.1055-0.311 Picture PostScript Text
3' UTR -390.101491-0.262 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on P50539
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0046983 protein dimerization activity
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0008285 negative regulation of cell proliferation
GO:0042994 cytoplasmic sequestering of transcription factor

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0090575 RNA polymerase II transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  BC035128 - Homo sapiens MAX interactor 1, mRNA (cDNA clone MGC:43220 IMAGE:5263647), complete cds.
LP895204 - Sequence 68 from Patent EP3253886.
CU690046 - Synthetic construct Homo sapiens gateway clone IMAGE:100023453 5' read MXI1 mRNA.
KJ904511 - Synthetic construct Homo sapiens clone ccsbBroadEn_13905 MXI1 gene, encodes complete protein.
DQ891664 - Synthetic construct clone IMAGE:100004294; FLH179087.01X; RZPDo839C08130D MAX interactor 1 (MXI1) gene, encodes complete protein.
DQ894851 - Synthetic construct Homo sapiens clone IMAGE:100009311; FLH179083.01L; RZPDo839C08129D MAX interactor 1 (MXI1) gene, encodes complete protein.
BC012907 - Homo sapiens MAX interactor 1, mRNA (cDNA clone MGC:9999 IMAGE:3882557), complete cds.
AK303949 - Homo sapiens cDNA FLJ61042 complete cds, highly similar to MAX-interacting protein 1.
L07648 - Human MXI1 mRNA, complete cds.
CR536576 - Homo sapiens full open reading frame cDNA clone RZPDo834H0622D for gene MXI1, MAX interacting protein 1; complete cds, incl. stopcodon.
AK309718 - Homo sapiens cDNA, FLJ99759.
AK307090 - Homo sapiens cDNA, FLJ97038.
BC016678 - Homo sapiens MAX interactor 1, mRNA (cDNA clone IMAGE:3923759), containing frame-shift errors.
AB528607 - Synthetic construct DNA, clone: pF1KB5035, Homo sapiens MXI1 gene for MAX interactor 1, without stop codon, in Flexi system.
KU178207 - Homo sapiens MAX interactor 1 isoform 1 (MXI1) mRNA, partial cds.
KU178208 - Homo sapiens MAX interactor 1 isoform 2 (MXI1) mRNA, complete cds, alternatively spliced.
KU178209 - Homo sapiens MAX interactor 1 isoform 3 (MXI1) mRNA, partial cds.
BT007069 - Homo sapiens MAX interacting protein 1 mRNA, complete cds.
D63940 - Homo sapiens mRNA for Mxi1 protein, complete cds.
JD453912 - Sequence 434936 from Patent EP1572962.
JD150681 - Sequence 131705 from Patent EP1572962.
JD150682 - Sequence 131706 from Patent EP1572962.
JD306186 - Sequence 287210 from Patent EP1572962.
JD562984 - Sequence 544008 from Patent EP1572962.
JD238754 - Sequence 219778 from Patent EP1572962.
JD088243 - Sequence 69267 from Patent EP1572962.
JD532584 - Sequence 513608 from Patent EP1572962.
JD111213 - Sequence 92237 from Patent EP1572962.
JD320944 - Sequence 301968 from Patent EP1572962.
JD563172 - Sequence 544196 from Patent EP1572962.
JD110582 - Sequence 91606 from Patent EP1572962.
JD200824 - Sequence 181848 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B1ANN7, BC016678, BHLHC11, D3DR25, D3DRA9, MXI1_HUMAN, P50539, Q15887, Q6FHW2, Q96E53, uc287jbo.1
UCSC ID: uc287jbo.1
RefSeq Accession: NM_001008541
Protein: P50539 (aka MXI1_HUMAN)
CCDS: CCDS31284.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.