Human Gene MAX (ENST00000358664.9) from GENCODE V44
  Description: Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA. (from RefSeq NM_002382)
RefSeq Summary (NM_002382): The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012].
Gencode Transcript: ENST00000358664.9
Gencode Gene: ENSG00000125952.21
Transcript (Including UTRs)
   Position: hg38 chr14:65,075,127-65,102,517 Size: 27,391 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr14:65,076,476-65,102,339 Size: 25,864 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:65,075,127-65,102,517)mRNA (may differ from genome)Protein (160 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MAX_HUMAN
DESCRIPTION: RecName: Full=Protein max; AltName: Full=Class D basic helix-loop-helix protein 4; Short=bHLHd4; AltName: Full=Myc-associated factor X;
FUNCTION: Transcription regulator. Forms a sequence-specific DNA- binding protein complex with MYC or MAD which recognizes the core sequence 5'-CAC[GA]TG-3'. The MYC-MAX complex is a transcriptional activator, whereas the MAD-MAX complex is a repressor. May repress transcription via the recruitment of a chromatin remodeling complex containing H3 'Lys-9' histone methyltransferase activity.
SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MYC or MAD. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with SPAG9.
INTERACTION: Q99814:EPAS1; NbExp=2; IntAct=EBI-751711, EBI-447470; P02794:FTH1; NbExp=2; IntAct=EBI-751711, EBI-713259; Q9UBS5:GABBR1; NbExp=3; IntAct=EBI-751711, EBI-724156; Q9Y6D9:MAD1L1; NbExp=2; IntAct=EBI-751711, EBI-742610; P01106:MYC; NbExp=21; IntAct=EBI-751711, EBI-447544;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle.
PTM: Reversible lysine acetylation might regulate the nuclear- cytoplasmic shuttling of specific Max complexes.
SIMILARITY: Belongs to the MAX family.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAX
Diseases sorted by gene-association score: hereditary paraganglioma-pheochromocytoma syndromes* (335), pheochromocytoma* (233), max-related susceptibility to pheochromocytoma* (100), max-related hereditary paraganglioma-pheochromocytoma syndrome* (100), renal oncocytoma (7), sporadic pheochromocytoma (6)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.43 RPKM in Spleen
Total median expression: 942.10 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.20178-0.304 Picture PostScript Text
3' UTR -397.701349-0.295 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

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1AN2 - X-ray 1HLO - X-ray MuPIT 1NKP - X-ray MuPIT 1NLW - X-ray MuPIT 1R05 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P61244
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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
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003712 transcription cofactor activity
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0044877 macromolecular complex binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0070888 E-box binding
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding

Biological Process:
GO:0000082 G1/S transition of mitotic cell cycle
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0009267 cellular response to starvation
GO:0010243 response to organonitrogen compound
GO:0010629 negative regulation of gene expression
GO:0032868 response to insulin
GO:0048678 response to axon injury
GO:0051402 neuron apoptotic process
GO:0060041 retina development in camera-type eye
GO:0065003 macromolecular complex assembly
GO:0070317 negative regulation of G0 to G1 transition
GO:0071375 cellular response to peptide hormone stimulus

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016605 PML body
GO:0030425 dendrite
GO:0032993 protein-DNA complex
GO:0042995 cell projection
GO:0071339 MLL1 complex
GO:0090575 RNA polymerase II transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  BC027924 - Homo sapiens MYC associated factor X, mRNA (cDNA clone MGC:34679 IMAGE:5309524), complete cds.
BC025685 - Homo sapiens MYC associated factor X, mRNA (cDNA clone MGC:36767 IMAGE:5205305), complete cds.
AL833643 - Homo sapiens mRNA; cDNA DKFZp686O0679 (from clone DKFZp686O0679).
BC003525 - Homo sapiens MYC associated factor X, mRNA (cDNA clone MGC:10775 IMAGE:3607261), complete cds.
BC036092 - Homo sapiens MYC associated factor X, mRNA (cDNA clone MGC:33818 IMAGE:5299106), complete cds.
JD268299 - Sequence 249323 from Patent EP1572962.
JD233786 - Sequence 214810 from Patent EP1572962.
JD026679 - Sequence 7703 from Patent EP1572962.
JD386760 - Sequence 367784 from Patent EP1572962.
JD148075 - Sequence 129099 from Patent EP1572962.
JD096610 - Sequence 77634 from Patent EP1572962.
BC004516 - Homo sapiens MYC associated factor X, mRNA (cDNA clone MGC:11225 IMAGE:3937573), complete cds.
JD438287 - Sequence 419311 from Patent EP1572962.
JD247118 - Sequence 228142 from Patent EP1572962.
JD070947 - Sequence 51971 from Patent EP1572962.
JD080003 - Sequence 61027 from Patent EP1572962.
AK292189 - Homo sapiens cDNA FLJ76321 complete cds, highly similar to Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA.
JD192116 - Sequence 173140 from Patent EP1572962.
JD215248 - Sequence 196272 from Patent EP1572962.
JD408948 - Sequence 389972 from Patent EP1572962.
JD126388 - Sequence 107412 from Patent EP1572962.
JD134970 - Sequence 115994 from Patent EP1572962.
AK290130 - Homo sapiens cDNA FLJ77408 complete cds, highly similar to Homo sapiens MYC associated factor X (MAX), transcript variant 2, mRNA.
JD089968 - Sequence 70992 from Patent EP1572962.
JD228302 - Sequence 209326 from Patent EP1572962.
M64240 - Human helix-loop-helix zipper protein (max) mRNA, complete cds.
X60287 - H.sapiens max mRNA.
KJ905824 - Synthetic construct Homo sapiens clone ccsbBroadEn_15494 MAX gene, encodes complete protein.
KJ905825 - Synthetic construct Homo sapiens clone ccsbBroadEn_15495 MAX gene, encodes complete protein.
KJ891584 - Synthetic construct Homo sapiens clone ccsbBroadEn_00978 MAX gene, encodes complete protein.
CU693010 - Synthetic construct Homo sapiens gateway clone IMAGE:100017933 5' read MAX mRNA.
AB463901 - Synthetic construct DNA, clone: pF1KB3455, Homo sapiens MAX gene for MYC associated factor X, without stop codon, in Flexi system.
JD193562 - Sequence 174586 from Patent EP1572962.
JD206189 - Sequence 187213 from Patent EP1572962.
AK290929 - Homo sapiens cDNA FLJ77409 complete cds, highly similar to Homo sapiens MYC associated factor X (MAX), transcript variant 3, mRNA.
AK303412 - Homo sapiens cDNA FLJ54949 complete cds, highly similar to Homo sapiens MYC associated factor X (MAX), transcript variant 5, mRNA.
AY353088 - Homo sapiens MAX protein (MAX) mRNA, complete cds; alternatively spliced.
CR542191 - Homo sapiens full open reading frame cDNA clone RZPDo834H0524D for gene MAX, MAX protein; complete cds, without stopcodon.
AK292630 - Homo sapiens cDNA FLJ76576 complete cds, highly similar to Homo sapiens MYC associated factor X (MAX), transcript variant 5, mRNA.
JF432558 - Synthetic construct Homo sapiens clone IMAGE:100073785 MYC associated factor X (MAX) gene, encodes complete protein.
KJ897170 - Synthetic construct Homo sapiens clone ccsbBroadEn_06564 MAX gene, encodes complete protein.
BC013669 - Homo sapiens MYC associated factor X, mRNA (cDNA clone MGC:18164 IMAGE:4155088), complete cds.
KJ891583 - Synthetic construct Homo sapiens clone ccsbBroadEn_00977 MAX gene, encodes complete protein.
JD389464 - Sequence 370488 from Patent EP1572962.
JD163627 - Sequence 144651 from Patent EP1572962.
JD283862 - Sequence 264886 from Patent EP1572962.
JD233439 - Sequence 214463 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa05200 - Pathways in cancer
hsa05222 - Small cell lung cancer

BioCarta from NCI Cancer Genome Anatomy Project
h_p38mapkPathway - p38 MAPK Signaling Pathway
h_tertpathway - Overview of telomerase protein component gene hTert Transcriptional Regulation
h_mapkPathway - MAPKinase Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein P61244 (Reactome details) participates in the following event(s):

R-HSA-8932400 MYC:MAX binds the CDC25A gene
R-HSA-8953115 E2F6:TFDP1 binds to MGA:MAX
R-HSA-8953418 EHMT1:EHMT2 complex binds E2F6.com-1 core
R-HSA-9007283 CBX3 and PRC1.6 associate with E2F6.com-1
R-HSA-8953452 E2F6.com-1 complex binds the E2F1 gene promoter
R-HSA-69202 Cyclin E associated events during G1/S transition
R-HSA-8953750 Transcriptional Regulation by E2F6
R-HSA-69206 G1/S Transition
R-HSA-212436 Generic Transcription Pathway
R-HSA-453279 Mitotic G1-G1/S phases
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-74160 Gene expression (Transcription)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: A8K265, A8K4G4, A8K824, BHLHD4, ENST00000358664.1, ENST00000358664.2, ENST00000358664.3, ENST00000358664.4, ENST00000358664.5, ENST00000358664.6, ENST00000358664.7, ENST00000358664.8, MAX_HUMAN, NM_002382, P25912, P52163, P61244, Q14803, Q96CY8, uc001xif.1, uc001xif.2, uc001xif.3, uc001xif.4
UCSC ID: ENST00000358664.9
RefSeq Accession: NM_002382
Protein: P61244 (aka MAX_HUMAN)
CCDS: CCDS9771.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MAX:
paragangliomas (Hereditary Paraganglioma-Pheochromocytoma Syndromes)

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