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Aliases for MLX Gene

Aliases for MLX Gene

  • MLX, MAX Dimerization Protein 2 3 5
  • Class D Basic Helix-Loop-Helix Protein 13 3 4
  • Transcription Factor-Like Protein 4 3 4
  • BHLHd13 3 4
  • TCFL4 3 4
  • Transcription Factor-Like 4 2
  • MAX-Like BHLHZIP Protein 3
  • Max-Like BHLHZip Protein 4
  • MAX-Like Protein X 2
  • BigMax Protein 3
  • Protein BigMax 4
  • MAD7 3
  • MXD7 3

External Ids for MLX Gene

Previous HGNC Symbols for MLX Gene

  • TCFL4

Previous GeneCards Identifiers for MLX Gene

  • GC17P037973
  • GC17P040719
  • GC17P036483

Summaries for MLX Gene

Entrez Gene Summary for MLX Gene

  • 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]

GeneCards Summary for MLX Gene

MLX (MLX, MAX Dimerization Protein) is a Protein Coding gene. Diseases associated with MLX include takayasu's arteritis and intraocular retinoblastoma. Among its related pathways are Metabolism and Integration of energy metabolism. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is MLXIP.

UniProtKB/Swiss-Prot for MLX Gene

  • Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MAD1, MAD4, MNT, WBSCR14 and MLXIP which recognizes the core sequence 5-CACGTG-3. The TCFL4-MAD1, TCFL4-MAD4, TCFL4-WBSCR14 complexes are transcriptional repressors. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation.

Gene Wiki entry for MLX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLX Gene

Genomics for MLX Gene

Regulatory Elements for MLX Gene

Promoters for MLX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MLX on UCSC Golden Path with GeneCards custom track

Genomic Location for MLX Gene

Chromosome:
17
Start:
42,567,060 bp from pter
End:
42,573,239 bp from pter
Size:
6,180 bases
Orientation:
Plus strand

Genomic View for MLX Gene

Genes around MLX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MLX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLX Gene

Proteins for MLX Gene

  • Protein details for MLX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UH92-MLX_HUMAN
    Recommended name:
    Max-like protein X
    Protein Accession:
    Q9UH92
    Secondary Accessions:
    • A8K2J3
    • B2RAV8
    • B2RD73
    • Q53XM6
    • Q96FL2
    • Q9H2V0
    • Q9H2V1
    • Q9H2V2
    • Q9NXN3

    Protein attributes for MLX Gene

    Size:
    298 amino acids
    Molecular mass:
    33300 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAD1, MAD4, MNT, WBSCR14 and MLXIP. Can also bind DNA as a homodimer.

    Alternative splice isoforms for MLX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MLX Gene

Proteomics data for MLX Gene at MOPED

Post-translational modifications for MLX Gene

  • Ubiquitination at Lys 170 and Lys 179
  • Modification sites at PhosphoSitePlus

Other Protein References for MLX Gene

Antibody Products

No data available for DME Specific Peptides for MLX Gene

Domains & Families for MLX Gene

Protein Domains for MLX Gene

Suggested Antigen Peptide Sequences for MLX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UH92

UniProtKB/Swiss-Prot:

MLX_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with MLX: view

Function for MLX Gene

Molecular function for MLX Gene

UniProtKB/Swiss-Prot Function:
Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MAD1, MAD4, MNT, WBSCR14 and MLXIP which recognizes the core sequence 5-CACGTG-3. The TCFL4-MAD1, TCFL4-MAD4, TCFL4-WBSCR14 complexes are transcriptional repressors. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation.

Gene Ontology (GO) - Molecular Function for MLX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IMP 10918583
GO:0008134 transcription factor binding IEA,IPI 11230181
GO:0042803 protein homodimerization activity IPI 11230181
genes like me logo Genes that share ontologies with MLX: view
genes like me logo Genes that share phenotypes with MLX: view

Human Phenotype Ontology for MLX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MLX Gene

Localization for MLX Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLX Gene

Isoform Alpha: Cytoplasm. Note=Found predominantly in the cytoplasm (PubMed:10918583). {ECO:0000269 PubMed:10918583}.
Isoform Beta: Cytoplasm. Note=Found predominantly in the cytoplasm (PubMed:10918583). {ECO:0000269 PubMed:10918583}.
Isoform Gamma: Nucleus. Note=Found predominantly in the nucleus (PubMed:10918583). {ECO:0000269 PubMed:10918583}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MLX Gene COMPARTMENTS Subcellular localization image for MLX gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 2
mitochondrion 2

No data available for Gene Ontology (GO) - Cellular Components for MLX Gene

Pathways & Interactions for MLX Gene

genes like me logo Genes that share pathways with MLX: view

Pathways by source for MLX Gene

Gene Ontology (GO) - Biological Process for MLX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with MLX: view

No data available for SIGNOR curated interactions for MLX Gene

Drugs & Compounds for MLX Gene

(1) Drugs for MLX Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MLX Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MLX: view

Transcripts for MLX Gene

Unigene Clusters for MLX Gene

MLX, MAX dimerization protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MLX Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b
SP1: - - - - -
SP2: - - -
SP3: - - -
SP4: - - - - -
SP5: - - -
SP6: - - -
SP7: - - -
SP8: - - - - - - -
SP9: -
SP10: -

Relevant External Links for MLX Gene

GeneLoc Exon Structure for
MLX
ECgene alternative splicing isoforms for
MLX

Expression for MLX Gene

mRNA expression in normal human tissues for MLX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MLX Gene

This gene is overexpressed in Plasma (23.3), Tlymphocyte (16.0), Monocytes (13.4), Neutrophil (6.6), and Brain (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MLX Gene



SOURCE GeneReport for Unigene cluster for MLX Gene Hs.714749

mRNA Expression by UniProt/SwissProt for MLX Gene

Q9UH92-MLX_HUMAN
Tissue specificity: Expressed in all tissues tested, including spleen, thymus, prostate, ovary, intestine, colon, peripheral blood leukocyte, heart, liver, skeletal muscle and kidney. Lower levels of expression in testis, brain, placenta and lung.
genes like me logo Genes that share expression patterns with MLX: view

Protein tissue co-expression partners for MLX Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MLX Gene

Orthologs for MLX Gene

This gene was present in the common ancestor of animals.

Orthologs for MLX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MLX 36
  • 100 (a)
OneToOne
MLX 35
  • 99.66 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia MLX 35
  • 93.97 (n)
  • 97.41 (a)
MLX 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MLX 36
  • 95 (a)
OneToOne
MLX 35
  • 93.62 (n)
  • 95.3 (a)
mouse
(Mus musculus)
Mammalia Mlx 16
Mlx 36
  • 95 (a)
OneToOne
Mlx 35
  • 90.49 (n)
  • 95.3 (a)
oppossum
(Monodelphis domestica)
Mammalia MLX 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MLX 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mlx 35
  • 91.05 (n)
  • 95.64 (a)
chicken
(Gallus gallus)
Aves MLX 35
  • 79.69 (n)
  • 84.87 (a)
MLX 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLX 36
  • 87 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15007 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mlx 35
  • 74.75 (n)
  • 79.7 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
mlx 35
  • 75.46 (n)
  • 77.87 (a)
mlx 36
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000682 35
  • 57.82 (n)
  • 51.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta bigmax 35
  • 60.41 (n)
  • 51.78 (a)
bigmax 36
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for MLX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MLX Gene

ENSEMBL:
Gene Tree for MLX (if available)
TreeFam:
Gene Tree for MLX (if available)

Paralogs for MLX Gene

Paralogs for MLX Gene

(2) SIMAP similar genes for MLX Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for MLX Gene

genes like me logo Genes that share paralogs with MLX: view

Variants for MLX Gene

Sequence variations from dbSNP and Humsavar for MLX Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs665268 - 42,570,011(+) ACACC(A/G)GGACA reference, missense
rs2010750 -- 42,571,373(-) aaggc(A/G)ggtgg intron-variant
rs8074485 -- 42,571,083(+) TCTCC(A/G)TCTTG intron-variant
rs17671179 -- 42,569,832(+) CTTTC(C/G)TGACC intron-variant
rs28684758 -- 42,570,197(+) CAACA(A/G)TAGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MLX Gene

Variant ID Type Subtype PubMed ID
nsv908249 CNV Loss 21882294
dgv3172n71 CNV Loss 21882294
esv33998 OTHER Inversion 15654335
nsv908255 CNV Loss 21882294

Variation tolerance for MLX Gene

Residual Variation Intolerance Score: 21.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.65; 91.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MLX Gene

HapMap Linkage Disequilibrium report
MLX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLX Gene

Disorders for MLX Gene

MalaCards: The human disease database

(4) MalaCards diseases for MLX Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
takayasu's arteritis
  • aortic arch arteritis
intraocular retinoblastoma
  • pediatric intraocular retinoblastoma
juvenile pilocytic astrocytoma
punctate epithelial keratoconjunctivitis
  • punctate keratitis
- elite association - COSMIC cancer census association via MalaCards
Search MLX in MalaCards View complete list of genes associated with diseases

Relevant External Links for MLX

Genetic Association Database (GAD)
MLX
Human Genome Epidemiology (HuGE) Navigator
MLX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MLX
genes like me logo Genes that share disorders with MLX: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MLX Gene

Publications for MLX Gene

  1. Mlx, a novel Max-like bHLHZip protein that interacts with the Max network of transcription factors. (PMID: 10593926) Billin A.N. … Ayer D.E. (J. Biol. Chem. 1999) 3 4 23 67
  2. TCFL4: a gene at 17q21.1 encoding a putative basic helix-loop-helix leucine-zipper transcription factor. (PMID: 8973301) Bjerknes M. … Cheng H. (Gene 1996) 2 3 23
  3. Glucose sensing by MondoA:Mlx complexes: a role for hexokinases and direct regulation of thioredoxin-interacting protein expression. (PMID: 18458340) Stoltzman C.A. … Ayer D.E. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 23
  4. Direct role of ChREBP.Mlx in regulating hepatic glucose-responsive genes. (PMID: 15664996) Ma L. … Towle H.C. (J. Biol. Chem. 2005) 3 23
  5. The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3. (PMID: 15163635) Merla G. … Reymond A. (Hum. Mol. Genet. 2004) 3 23

Products for MLX Gene

Sources for MLX Gene

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