Human Gene MLX (uc002iag.3) Description and Page Index
  Description: Homo sapiens MLX, MAX dimerization protein (MLX), transcript variant 3, mRNA.
RefSeq Summary (NM_170607): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF213668.1, SRR1803614.144693.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END##
Transcript (Including UTRs)
   Position: hg19 chr17:40,719,078-40,725,221 Size: 6,144 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr17:40,719,143-40,723,621 Size: 4,479 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:40,719,078-40,725,221)mRNA (may differ from genome)Protein (298 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Max-like protein X; AltName: Full=Class D basic helix-loop-helix protein 13; Short=bHLHd13; AltName: Full=Max-like bHLHZip protein; AltName: Full=Protein BigMax; AltName: Full=Transcription factor-like protein 4;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Isoform Alpha: Cytoplasm. Note=Found predominantly in the cytoplasm.
SUBCELLULAR LOCATION: Isoform Beta: Cytoplasm. Note=Found predominantly in the cytoplasm.
SUBCELLULAR LOCATION: Isoform Gamma: Nucleus. Note=Found predominantly in the nucleus.
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.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MLX
CDC HuGE Published Literature: MLX

-  MalaCards Disease Associations
  MalaCards Gene Search: MLX
Diseases sorted by gene-association score: takayasu arteritis* (17), intraocular retinoblastoma (1), punctate epithelial keratoconjunctivitis (1), juvenile pilocytic astrocytoma (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.50 RPKM in Small Intestine - Terminal Ileum
Total median expression: 908.78 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.9065-0.491 Picture PostScript Text
3' UTR -539.041600-0.337 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain
55961 - Bet v1-like

ModBase Predicted Comparative 3D Structure on Q9UH92
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0031965 nuclear membrane

-  Descriptions from all associated GenBank mRNAs
  AB209235 - Homo sapiens mRNA for transcription factor-like protein 4 isoform alpha variant protein.
AF213666 - Homo sapiens bHLHZip transcription factor BIGMAX alpha mRNA, complete cds.
AF213667 - Homo sapiens bHLHZip transcription factor BIGMAX beta mRNA, complete cds.
AF213668 - Homo sapiens bHLHZip transcription factor BIGMAX gamma mRNA, complete cds.
BC010689 - Homo sapiens MAX-like protein X, mRNA (cDNA clone MGC:8875 IMAGE:3872342), complete cds.
AK296114 - Homo sapiens cDNA FLJ59703 complete cds, highly similar to Homo sapiens MAX-like protein X (MLX), transcript variant 1, mRNA.
AK290258 - Homo sapiens cDNA FLJ75022 complete cds, highly similar to Homo sapiens transcription factor-like 4 (TCFL4), transcriptvariant alpha, mRNA.
BC014537 - Homo sapiens MAX-like protein X, mRNA (cDNA clone IMAGE:4273079), with apparent retained intron.
AK315432 - Homo sapiens cDNA, FLJ96488, Homo sapiens transcription factor-like 4 (TCFL4), transcriptvariant beta, mRNA.
AK309628 - Homo sapiens cDNA, FLJ99669.
AK303221 - Homo sapiens cDNA FLJ52911 complete cds, highly similar to Max-like protein X.
AK000150 - Homo sapiens cDNA FLJ20143 fis, clone COL07782.
AK314378 - Homo sapiens cDNA, FLJ95151, Homo sapiens transcription factor-like 4 (TCFL4), transcriptvariant gamma, mRNA.
AF203978 - Homo sapiens MAX-like bHLHZIP protein (MLX) mRNA, complete cds.
AB527756 - Synthetic construct DNA, clone: pF1KB7973, Homo sapiens MLX gene for MAX-like protein X, without stop codon, in Flexi system.
BT009812 - Homo sapiens transcription factor-like 4 mRNA, complete cds.
KJ897646 - Synthetic construct Homo sapiens clone ccsbBroadEn_07040 MLX gene, encodes complete protein.
JD091661 - Sequence 72685 from Patent EP1572962.
JD036739 - Sequence 17763 from Patent EP1572962.
JD497203 - Sequence 478227 from Patent EP1572962.
JD278319 - Sequence 259343 from Patent EP1572962.
JD021533 - Sequence 2557 from Patent EP1572962.
JD539013 - Sequence 520037 from Patent EP1572962.
JD028268 - Sequence 9292 from Patent EP1572962.
JD565547 - Sequence 546571 from Patent EP1572962.
JD492756 - Sequence 473780 from Patent EP1572962.
JD384826 - Sequence 365850 from Patent EP1572962.
JD374607 - Sequence 355631 from Patent EP1572962.
JD489550 - Sequence 470574 from Patent EP1572962.
JD390373 - Sequence 371397 from Patent EP1572962.
JD251399 - Sequence 232423 from Patent EP1572962.
JD110983 - Sequence 92007 from Patent EP1572962.
JD186439 - Sequence 167463 from Patent EP1572962.
JD510697 - Sequence 491721 from Patent EP1572962.
JD234307 - Sequence 215331 from Patent EP1572962.
JD188410 - Sequence 169434 from Patent EP1572962.
JD525348 - Sequence 506372 from Patent EP1572962.
JD135228 - Sequence 116252 from Patent EP1572962.
JD465062 - Sequence 446086 from Patent EP1572962.
JD130948 - Sequence 111972 from Patent EP1572962.
LF209348 - JP 2014500723-A/16851: Polycomb-Associated Non-Coding RNAs.
JD387302 - Sequence 368326 from Patent EP1572962.
JD553215 - Sequence 534239 from Patent EP1572962.
JD533951 - Sequence 514975 from Patent EP1572962.
JD043062 - Sequence 24086 from Patent EP1572962.
JD247475 - Sequence 228499 from Patent EP1572962.
JD077648 - Sequence 58672 from Patent EP1572962.
JD437461 - Sequence 418485 from Patent EP1572962.
JD090003 - Sequence 71027 from Patent EP1572962.
JD436268 - Sequence 417292 from Patent EP1572962.
JD504261 - Sequence 485285 from Patent EP1572962.
JD316122 - Sequence 297146 from Patent EP1572962.
JD438168 - Sequence 419192 from Patent EP1572962.
MA444925 - JP 2018138019-A/16851: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UH92 (Reactome details) participates in the following event(s):

R-HSA-163666 Formation of ChREBP:MLX heterodimer
R-HSA-163765 ChREBP activates metabolic gene expression
R-HSA-163685 Energy Metabolism
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2J3, B2RAV8, B2RD73, BHLHD13, MLX_HUMAN, NM_170607, NP_733752, Q53XM6, Q96FL2, Q9H2V0, Q9H2V1, Q9H2V2, Q9NXN3, Q9UH92, TCFL4
UCSC ID: uc002iag.3
RefSeq Accession: NM_170607
Protein: Q9UH92 (aka MLX_HUMAN)
CCDS: CCDS11430.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_170607.2
exon count: 8CDS single in 3' UTR: no RNA size: 2568
ORF size: 897CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1994.00frame shift in genome: no % Coverage: 99.77
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.