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

Gene ID: 4601, updated on 9-Feb-2020

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
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

Genomic context

See MXI1 in Genome Data Viewer
Location:
10q25.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (110207605..110287365)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (111967288..112047123)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378479 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 12 Neighboring gene uncharacterized LOC105378480 Neighboring gene survival motor neuron domain containing 1 Neighboring gene uncharacterized LOC105378482

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 OMIM: 176807 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC43220

Gene Ontology Provided by GOA

Component Evidence Code Pubs
RNA polymerase II transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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)

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/Swiss-Prot
    P50539
    UniProtKB/TrEMBL
    A0A0S2Z3X5
    Related
    ENSP00000354606.4, ENST00000361248.8
    Conserved Domains (2) summary
    smart00353
    Location:3279
    HLH; helix loop helix domain
    cl25732
    Location:65144
    SMC_N; RecF/RecN/SMC N terminal domain
  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
    P50539
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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