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

Gene ID: 4601, updated on 27-Nov-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
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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)

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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_001008541.1NP_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)