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

Gene ID: 4601, updated on 26-May-2016
Official Symbol
MXI1provided by HGNC
Official Full Name
MAX interactor 1, dimerization proteinprovided by HGNC
Primary source
HGNC:HGNC:7534
See related
Ensembl:ENSG00000119950 HPRD:02486; MIM:600020; Vega:OTTHUMG00000019033
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]
Orthologs
Location:
10q24-q25
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 Neighboring gene high mobility group box 3 pseudogene 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Malignant tumor of prostate
MedGen: C0376358 OMIM: 176807 GeneReviews: Not available
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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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC43220

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cytoplasmic sequestering of transcription factor TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
max-interacting protein 1
Names
MAX dimerization protein 2
Max-related transcription factor
class C basic helix-loop-helix protein 11

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, OTTHUMP00000020468, ENST00000361248, OTTHUMT00000050315
    Conserved Domains (1) summary
    cd00083
    Location:3278
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  2. NM_005962.4NP_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, AL538051, AW291670, BC016678, BM668806, BX417051, CB960506, CF594363
    Consensus CDS
    CCDS7564.2
    UniProtKB/Swiss-Prot
    P50539
    Related
    ENSP00000239007, OTTHUMP00000020469, ENST00000239007, OTTHUMT00000050316
    Conserved Domains (1) summary
    cd00083
    Location:69124
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  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, OTTHUMP00000020467, ENST00000332674, OTTHUMT00000050314
    Conserved Domains (1) summary
    cd00083
    Location:136191
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    112249113..112328883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)