U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 4601, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC43220

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_001008541.1NP_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:22101
      bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily
    2. NM_005962.5NP_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:73125
      HLH; helix loop helix domain
    3. NM_130439.3NP_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:140192
      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)