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

    Gene ID: 6945, updated on 10-Dec-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
    mouse all
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    Genomic context

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    See MLX in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42567100..42573203)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43424288..43430391)
    RS_2024_09 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. A critical role for the loop region of the basic helix-loop-helix/leucine zipper protein Mlx in DNA binding and glucose-regulated transcription. Ma L, et al. Nucleic Acids Res, 2007. PMID 17148476, Free PMC Article
    3. 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
    4. Direct role of ChREBP.Mlx in regulating hepatic glucose-responsive genes. Ma L, et al. J Biol Chem, 2005 Mar 25. PMID 15664996
    5. 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

    See all (52) 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)

    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 activator activity, RNA polymerase II-specific EXP
    Inferred from Experiment
    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
    located_in 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
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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