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MLX MAX dimerization protein MLX [ Homo sapiens (human) ]

Gene ID: 6945, updated on 5-Mar-2024

Summary

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Official Symbol
MLXprovided by HGNC
Official Full Name
MAX dimerization protein MLXprovided by HGNC
Primary source
HGNC:HGNC:11645
See related
Ensembl:ENSG00000108788 MIM:602976; AllianceGenome:HGNC:11645
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
TF4; MAD7; MXD7; TCFL4; bHLHd13
Summary
The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in duodenum (RPKM 29.5), small intestine (RPKM 29.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q21.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42567100..42573203)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43424288..43430391)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40719118..40725221)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene HSD17B1 promoter Neighboring gene HSD17B1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40706585-40707152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40707968-40708515 Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40717370-40717876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40717877-40718383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40719397-40719904 Neighboring gene Coenzyme A synthase Neighboring gene PSMC3 interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12210 Neighboring gene reticulophagy regulator family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12211 Neighboring gene tubulin gamma 1

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. MLX plays a key role in lipid and glucose metabolism in humans: Evidence from in vitro and in vivo studies. Nagarajan SR, et al. Metabolism, 2023 Jul. PMID 37088121, Free PMC Article
  2. Single-Nucleotide Polymorphism of the MLX Gene Is Associated With Takayasu Arteritis. Tamura N, et al. Circ Genom Precis Med, 2018 Oct. PMID 30354298, Free PMC Article
  3. Direct role of ChREBP.Mlx in regulating hepatic glucose-responsive genes. Ma L, et al. J Biol Chem, 2005 Mar 25. PMID 15664996
  4. TCFL4: a gene at 17q21.1 encoding a putative basic helix-loop-helix leucine-zipper transcription factor. Bjerknes M, et al. Gene, 1996 Nov 28. PMID 8973301
  5. The MNT transcription factor autoregulates its expression and supports proliferation in MYC-associated factor X (MAX)-deficient cells. Lafita-Navarro MC, et al. J Biol Chem, 2020 Feb 14. PMID 31919096, Free PMC Article

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MLX plays a key role in lipid and glucose metabolism in humans: Evidence from in vitro and in vivo studies.
    Title: MLX plays a key role in lipid and glucose metabolism in humans: Evidence from in vitro and in vivo studies.
  2. The MNT transcription factor autoregulates its expression and supports proliferation in MYC-associated factor X (MAX)-deficient cells.
    Title: The MNT transcription factor autoregulates its expression and supports proliferation in MYC-associated factor X (MAX)-deficient cells.
  3. MLX-Q139R mutation plays a crucial role in the pathogenesis of Takayasu arteritis through promoting inflammasome formation.
    Title: Single-Nucleotide Polymorphism of the MLX Gene Is Associated With Takayasu Arteritis.
  4. MYC is part of a network of bHLHLZ proteins centered on the MYC heterodimeric partner MAX and its counterpart, the MAX-like protein MLX.
    Title: Functional interactions among members of the MAX and MLX transcriptional network during oncogenesis.
  5. Knockdown of MondoA, or its dimerization partner Mlx, blocks Myc-induced reprogramming of multiple metabolic pathways, resulting in apoptosis
    Title: Deregulated Myc requires MondoA/Mlx for metabolic reprogramming and tumorigenesis.
  6. These studies suggest a key role for MondoA:Mlx complexes in the adaptive transcriptional response to changes in extracellular glucose concentration and peripheral glucose uptake.
    Title: Glucose sensing by MondoA:Mlx complexes: a role for hexokinases and direct regulation of thioredoxin-interacting protein expression.
  7. Data show that for both MondoA and Mlx, the C-terminal domain CRM-1 has cytoplasmic localization activity that is required by the protein monomers to accumulate in the cytoplasm.
    Title: A novel heterodimerization domain, CRM1, and 14-3-3 control subcellular localization of the MondoA-Mlx heterocomplex.
  8. Endogenous MondoA and Mlx associate with mitochondria in primary skeletal muscle.
    Title: MondoA-Mlx heterodimers are candidate sensors of cellular energy status: mitochondrial localization and direct regulation of glycolysis.
  9. Mlx is an obligatory partner of ChREBP in regulating lipogenic enzyme genes in liver.
    Title: Direct role of ChREBP.Mlx in regulating hepatic glucose-responsive genes.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
 PubMed 
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
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA-templated transcription NAS
Non-traceable Author Statement
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 chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
max-like protein X
Names
BigMax protein
MAX-like bHLHZIP protein
MLX, MAX dimerization protein
class D basic helix-loop-helix protein 13
transcription factor-like protein 4

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_029442.1 RefSeqGene

    Range
    5041..11144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_170607.3 → NP_733752.1  max-like protein X isoform gamma

    See identical proteins and their annotated locations for NP_733752.1

    Status: REVIEWED

    Source sequence(s)
    AC067852
    Consensus CDS
    CCDS11430.1
    UniProtKB/Swiss-Prot
    A8K2J3, B2RAV8, B2RD73, Q53XM6, Q96FL2, Q9H2V0, Q9H2V1, Q9H2V2, Q9NXN3, Q9UH92
    UniProtKB/TrEMBL
    K7EID0
    Related
    ENSP00000246912.3, ENST00000246912.8
    Conserved Domains (1) summary
    pfam00010
    Location:130 → 188
    HLH; Helix-loop-helix DNA-binding domain

  2. NM_198204.2 → NP_937847.1  max-like protein X isoform beta

    See identical proteins and their annotated locations for NP_937847.1

    Status: REVIEWED

    Source sequence(s)
    AC067852
    Consensus CDS
    CCDS45687.1
    Related
    ENSP00000416627.1, ENST00000435881.7
    Conserved Domains (1) summary
    cd19687
    Location:75 → 151
    bHLHzip_Mlx; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in Max-like protein X (Mlx) and similar proteins

  3. NM_198205.2 → NP_937848.1  max-like protein X isoform alpha

    See identical proteins and their annotated locations for NP_937848.1

    Status: REVIEWED

    Source sequence(s)
    AC067852
    Consensus CDS
    CCDS42341.1
    UniProtKB/Swiss-Prot
    Q9UH92
    Related
    ENSP00000320913.3, ENST00000346833.8
    Conserved Domains (1) summary
    cd19687
    Location:45 → 121
    bHLHzip_Mlx; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in Max-like protein X (Mlx) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42567100..42573203
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43424288..43430391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_013383.2: Suppressed sequence

    Description
    NM_013383.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.

  2. NM_170608.1: Suppressed sequence

    Description
    NM_170608.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UH92.2 GenPept UniProtKB/Swiss-Prot:Q9UH92

Gene LinkOut

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