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    MXI1 MAX interactor 1, dimerization protein [ Homo sapiens (human) ]

    Gene ID: 4601, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MXI1provided by HGNC
    Official Full Name
    MAX interactor 1, dimerization proteinprovided by HGNC
    Primary source
    HGNC:HGNC:7534
    See related
    Ensembl:ENSG00000119950 MIM:600020; AllianceGenome:HGNC:7534
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MXI; MAD2; MXD2; bHLHc11
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 23.6), brain (RPKM 22.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MXI1 in Genome Data Viewer
    Location:
    10q25.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (110207605..110287365)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (111091474..111171229)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (111967363..112047123)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:111910896-111911890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:111911891-111912883 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:111924423-111924922 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:111928634-111929601 Neighboring gene Sharpr-MPRA regulatory region 9707 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:111933901-111934496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:111965444-111965944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2808 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:111969909-111970887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4005 Neighboring gene uncharacterized LOC105378480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2812 Neighboring gene NANOG hESC enhancer GRCh37_chr10:112045143-112045644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2813 Neighboring gene survival motor neuron domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4010 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:112116377-112117576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4017 Neighboring gene Sharpr-MPRA regulatory region 10815 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:112169725-112170924 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:112174002-112175201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:112177315-112177815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2814 Neighboring gene uncharacterized LOC105378482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4021 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:112190742-112191347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4022

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mxi1 participates in the progression of lung cancer via the microRNA-300/KLF9/GADD34 Axis. Lei Y, et al. Cell Death Dis, 2022 May 2. PMID 35501353, Free PMC Article
    2. 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, et al. Hum Genet, 1995 Jun. PMID 7789959
    3. Mxi1, a protein that specifically interacts with Max to bind Myc-Max recognition sites. Zervos AS, et al. Cell, 1994 Oct 21. PMID 7954804
    4. Localization of the human Mxi1 transcription factor gene (MXI1) to chromosome 10q24-q25. Wechsler DS, et al. Genomics, 1994 Jun. PMID 7959753
    5. Genomic organization of human MXI1, a putative tumor suppressor gene. Wechsler DS, et al. Genomics, 1996 Mar 15. PMID 8838813

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mxi1 participates in the progression of lung cancer via the microRNA-300/KLF9/GADD34 Axis.
      Title: Mxi1 participates in the progression of lung cancer via the microRNA-300/KLF9/GADD34 Axis.
    2. UBE2O targets Mxi1 for ubiquitination and degradation to promote lung cancer progression and radioresistance.
      Title: UBE2O targets Mxi1 for ubiquitination and degradation to promote lung cancer progression and radioresistance.
    3. HIF-1alpha-induced FOXO3a promotes apoptosis of hypoxic endothelial cells by directly inducing Mxi1- 0, which leads to the activation of caspase-8 apoptotic pathway.
      Title: FOXO3a-dependent up-regulation of Mxi1-0 promotes hypoxia-induced apoptosis in endothelial cells.
    4. a phosphorylation mutant form of Mxi1 (Mxi1-S160A), which cannot be degraded by S6K1 and beta-Trcp, is much more stable and efficient in suppressing the transcriptional activity of Myc and radioresistance in lung cancer cells.
      Title: S6K1 phosphorylation-dependent degradation of Mxi1 by β-Trcp ubiquitin ligase promotes Myc activation and radioresistance in lung cancer.
    5. Reactive oxygen species mediates hypoxia-induced VEGF by upregulation of Mxi1-0.
      Title: A positive feedback loop between ROS and Mxi1-0 promotes hypoxia-induced VEGF expression in human hepatocellular carcinoma cells.
    6. results suggest that Mxi1-0 regulates the growth of HUVECs via the IL-8 and ERK1/2 pathways, which apparently reciprocally activate each other
      Title: Mxi1-0 regulates the growth of human umbilical vein endothelial cells through extracellular signal-regulated kinase 1/2 (ERK1/2) and interleukin-8 (IL-8)-dependent pathways.
    7. MYC-HEG and MXI1-LEG levels are associated with poor prognosis in patients with breast cancer, suggesting that they may be useful molecular markers in breast cancer prognosis prediction.
      Title: MYC and MXI1 protein expression: potential prognostic significance in women with breast cancer in China.
    8. MicroRNA-155 promotes glioma cell proliferation via the regulation of MXI1.
      Title: MicroRNA-155 promotes glioma cell proliferation via the regulation of MXI1.
    9. MXI1-0 appears to be a downstream target of MYCN-dependent signaling pathways and may contribute to N-Myc-dependent cell growth and proliferation.
      Title: N-Myc differentially regulates expression of MXI1 isoforms in neuroblastoma.
    10. These findings reveal, for the first time, the novel functions of cooperation of miR243p and miR27a3p from two clusters in promoting cell proliferation through MXI1.
      Title: miR-24-3p and miR-27a-3p promote cell proliferation in glioma cells via cooperative regulation of MXI1.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Malignant tumor of prostate
    MedGen: C0376358 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
    EBI GWAS Catalog
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC43220

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    contributes_to DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    max-interacting protein 1
    Names
    MAX dimerization protein 2
    Max-related transcription factor
    class C basic helix-loop-helix protein 11

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012103.1 RefSeqGene

      Range
      5001..84761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001008541.1 → NP_001008541.1  max-interacting protein 1 isoform c

      See identical proteins and their annotated locations for NP_001008541.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also referred to as WR, differs in the 5' UTR and lacks an alternate in-frame exon, compared to variant 1. The resulting protein (isoform c) is shorter, compared to isoform a. This variant is supported by mRNAs and ESTs but the existence of the protein product has not been verified experimentally.
      Source sequence(s)
      AA854855, AW291670, BC012907, BC016678, BC035128, BM668806
      Consensus CDS
      CCDS31284.1
      UniProtKB/TrEMBL
      A0A0S2Z3X5, B1ANN8
      Related
      ENSP00000354606.4, ENST00000361248.8
      Conserved Domains (1) summary
      cl00081
      Location:22 → 101
      bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily

    2. NM_005962.5 → NP_005953.4  max-interacting protein 1 isoform a

      See identical proteins and their annotated locations for NP_005953.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also referred to as SRbeta, encodes the predominant isoform (a).
      Source sequence(s)
      AA640393, AA854855, AL360182, AL538051, AW291670, BC016678, BM668806, BX417051, CB960506, CF594363
      Consensus CDS
      CCDS7564.2
      UniProtKB/Swiss-Prot
      B1ANN7, D3DR25, D3DRA9, P50539, Q15887, Q6FHW2, Q96E53
      UniProtKB/TrEMBL
      B1ANN8
      Related
      ENSP00000239007.7, ENST00000239007.11
      Conserved Domains (1) summary
      smart00353
      Location:73 → 125
      HLH; helix loop helix domain

    3. NM_130439.3 → NP_569157.2  max-interacting protein 1 isoform b

      See identical proteins and their annotated locations for NP_569157.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also referred to as SRalpha, differs in the 5' UTR and coding region, compared to variant 1. The resulting protein (isoform b) is longer and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AA854855, AW291670, BC016678, BC035128, BM668806, BQ924073
      Consensus CDS
      CCDS7563.1
      UniProtKB/Swiss-Prot
      P50539
      Related
      ENSP00000331152.5, ENST00000332674.9
      Conserved Domains (1) summary
      smart00353
      Location:140 → 192
      HLH; helix loop helix domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      110207605..110287365
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      111091474..111171229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50539.2 GenPept UniProtKB/Swiss-Prot:P50539

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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