• Gene id: 4149

Gene Summary

• Gene Symbol: MAX   Gene   UCSC   Ensembl
• Aliases: bHLHd4
• Gene name: MYC associated factor X
• Alternate names: protein max, class D basic helix-loop-helix protein 4,
• Gene location: 14q23.3 (65102694: 65006100)     Exons: 10     NC_000014.9
• Gene summary(Entrez): 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 oncopro
• OMIM: 154950

Protein Summary

• Protein general information: P61244  
  • Name: Protein max (Class D basic helix loop helix protein 4) (bHLHd4) (Myc associated factor X)
  • Length: 160  
  • Mass: 18275
  • Tissue specificity: High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle.
• Sequence:

  MSDNDDIEVESDEEQPRFQSAADKRAHHNALERKRRDHIKDSFHSLRDSVPSLQGEKASRAQILDKATEYIQYMR
  RKNHTHQQDIDDLKRQNALLEQQVRALEKARSSAQLQTNYPSSDNSLYTNAKGSTISAFDGGSDSSSESEPEEPQ
  SRKKLRMEAS

• Structural information:
  • Protein Domains: (23..7-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR037933  
  • Prosite: PS50888
  • CDD: cd00083
  • PDB: 1AN2 1HLO 1NKP 1NLW 1R05 5EYO 6G6J 6G6K 6G6L
  • PDBsum: 1AN2 1HLO 1NKP 1NLW 1R05 5EYO 6G6J 6G6K 6G6L
  • DIP: 28145
  • STRING: ENSP00000351490
• Other Databases: GeneCards:  MAX  Malacards:  MAX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	contributes to
GO:0090575	RNA polymerase II transcription regulator complex	IDA	cellular component
GO:0090575	RNA polymerase II transcription regulator complex	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	contributes to
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	contributes to
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0090575	RNA polymerase II transcription regulator complex	IBA	cellular component
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0071339	MLL1 complex	IDA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0071339	MLL1 complex	IEA	cellular component
GO:0090575	RNA polymerase II transcription regulator complex	IEA	cellular component
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000082	G1/S transition of mitotic cell cycle	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0070317	negative regulation of G0 to G1 transition	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071375	cellular response to peptide hormone stimulus	IEA	biological process
GO:0065003	protein-containing complex assembly	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0016605	PML body	IEA	cellular component
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0009267	cellular response to starvation	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0051402	neuron apoptotic process	IEA	biological process
GO:0048678	response to axon injury	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0032868	response to insulin	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0010243	response to organonitrogen compound	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0032993	protein-DNA complex	IMP	cellular component
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0070888	E-box binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04010	MAPK signaling pathway
hsa05202	Transcriptional misregulation in cancer
hsa05222	Small cell lung cancer

Diseases

Associated diseases	References
Malignant paraganglioma	KEGG:H01510
Malignant paraganglioma	KEGG:H01510
lung small cell carcinoma	PMID:24362264
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray