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MAX MYC associated factor X [ Homo sapiens (human) ]

Gene ID: 4149, updated on 4-Nov-2018

Summary

Official Symbol
MAXprovided by HGNC
Official Full Name
MYC associated factor Xprovided by HGNC
Primary source
HGNC:HGNC:6913
See related
Ensembl:ENSG00000125952 MIM:154950; Vega:OTTHUMG00000142809
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
bHLHd4
Summary
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]
Expression
Ubiquitous expression in spleen (RPKM 18.6), lymph node (RPKM 17.0) and 25 other tissues See more
Orthologs

Genomic context

See MAX in Genome Data Viewer
Location:
14q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (65006101..65102695, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (65472819..65569413, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene CHURC1-FNTB readthrough Neighboring gene RAB15, member RAS oncogene family Neighboring gene uncharacterized LOC107984655 Neighboring gene farnesyltransferase, CAAX box, beta Neighboring gene microRNA 4706 Neighboring gene uncharacterized LOC100506321 Neighboring gene RNA, U2 small nuclear 14, pseudogene Neighboring gene long intergenic non-protein coding RNA 2324

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
NHGRI GWA Catalog
Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
NHGRI GWA Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates expression of c-Myc, Max, and 14-3-3epsilon proteins, and decreases phosphorylation of ATP-dependent tyrosine kinases (Akt) at Ser-473 in human mesangial cells (HMC) PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10775, MGC11225, MGC18164, MGC34679, MGC36767

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
contributes_to DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
E-box binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to RNA polymerase II regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
transcription coregulator activity TAS
Traceable Author Statement
more info
PubMed 
transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
cellular response to peptide hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to starvation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of G0 to G1 transition TAS
Traceable Author Statement
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex assembly IEA
Inferred from Electronic Annotation
more info
 
response to axon injury IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
MLL1 complex IDA
Inferred from Direct Assay
more info
PubMed 
PML body IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-DNA complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
protein max
Names
class D basic helix-loop-helix protein 4

NCBI Reference Sequences (RefSeq)

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_029830.1 RefSeqGene

    Range
    4815..101409
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_530

mRNA and Protein(s)

  1. NM_001271068.1NP_001257997.1  protein max isoform g

    See identical proteins and their annotated locations for NP_001257997.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks two alternate in-frame exons in the coding region and includes an alternate 3' terminal exon compared to variant 1. It encodes isoform g which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AI769390, AL833643, BC013669, BF038005, BF062526, HY018878
    UniProtKB/Swiss-Prot
    P61244
    Conserved Domains (1) summary
    pfam00010
    Location:1549
    HLH; Helix-loop-helix DNA-binding domain
  2. NM_001271069.1NP_001257998.1  protein max isoform h

    See identical proteins and their annotated locations for NP_001257998.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks two alternate in-frame exons in the coding region and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform h which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AL139022, AL833643, BF038005, DB482510
    Conserved Domains (1) summary
    pfam00010
    Location:1551
    HLH; Helix-loop-helix DNA-binding domain
  3. NM_001320415.1NP_001307344.1  protein max isoform i

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) contains an alternate internal exon in its 5' coding region resulting in a frameshift compared to variant 1. The encoded isoform (i) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AI954328, AL833643, AW043562, BC025685, BF038005
    Consensus CDS
    CCDS81813.1
    UniProtKB/TrEMBL
    G3V302, Q8TAX8
    Related
    ENSP00000450955.1, OTTHUMP00000246664, ENST00000557277.5, OTTHUMT00000414625
  4. NM_002382.4NP_002373.3  protein max isoform a

    See identical proteins and their annotated locations for NP_002373.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a) which is also known as the long form.
    Source sequence(s)
    AI954328, AL833643, BC004516, BC025685, BF038005
    Consensus CDS
    CCDS9771.1
    UniProtKB/Swiss-Prot
    P61244
    UniProtKB/TrEMBL
    Q8TAX8
    Related
    ENSP00000351490.4, OTTHUMP00000183462, ENST00000358664.8, OTTHUMT00000286386
    Conserved Domains (1) summary
    pfam00010
    Location:2475
    HLH; Helix-loop-helix DNA-binding domain
  5. NM_145112.2NP_660087.1  protein max isoform b

    See identical proteins and their annotated locations for NP_660087.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform b (also known as the short form) which is shorter than isoform a.
    Source sequence(s)
    AI954328, BC025685, BC027924, BF038005
    Consensus CDS
    CCDS9772.1
    UniProtKB/Swiss-Prot
    P61244
    UniProtKB/TrEMBL
    Q8TAX8
    Related
    ENSP00000351175.4, OTTHUMP00000183461, ENST00000358402.8, OTTHUMT00000286385
    Conserved Domains (1) summary
    pfam00010
    Location:1566
    HLH; Helix-loop-helix DNA-binding domain
  6. NM_145113.2NP_660088.1  protein max isoform c

    See identical proteins and their annotated locations for NP_660088.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting protein (isoform c) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AI954328, AK290929, AL833643, BC025685, BC027924, BF038005, X60287
    Consensus CDS
    CCDS41965.1
    UniProtKB/Swiss-Prot
    P61244
    UniProtKB/TrEMBL
    A0A024R682, Q8TAX8
    Related
    ENSP00000480127.1, ENST00000618858.4
    Conserved Domains (1) summary
    pfam00010
    Location:2475
    HLH; Helix-loop-helix DNA-binding domain
  7. NM_145114.2NP_660089.1  protein max isoform d

    See identical proteins and their annotated locations for NP_660089.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks one alternate in-frame exon in the coding region and includes an alternate 3' terminal exon compared to variant 1. It encodes isoform d which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    BC013669, BF038005, BF062526, HY018878
    Consensus CDS
    CCDS9774.1
    UniProtKB/Swiss-Prot
    P61244
    Related
    ENSP00000246163.2, OTTHUMP00000183465, ENST00000246163.2, OTTHUMT00000286389
    Conserved Domains (1) summary
    pfam00010
    Location:2458
    HLH; Helix-loop-helix DNA-binding domain
  8. NM_197957.3NP_932061.1  protein max isoform f

    See identical proteins and their annotated locations for NP_932061.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame exon in the coding region and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform f which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AI917842, AL139022, BC013669, BF038005
    Consensus CDS
    CCDS9770.1
    UniProtKB/Swiss-Prot
    P61244
    Related
    ENSP00000342482.2, OTTHUMP00000183463, ENST00000341653.6, OTTHUMT00000286387
    Conserved Domains (1) summary
    pfam00010
    Location:2460
    HLH; Helix-loop-helix DNA-binding domain

RNA

  1. NR_073137.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) contains an alternate 5' exon and lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AI954328, BC004516, BC025685, BG177865, DB451269
  2. NR_073138.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) contains an alternate 5' exon, lacks an alternate internal exon and includes an alternate 3' terminal exon compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF compared to variant 1.
    Source sequence(s)
    BC013669, BF062526, DB451269, HY018878

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    65006101..65102695 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021312.2XP_016876801.1  protein max isoform X2

    UniProtKB/TrEMBL
    G3V302
  2. XM_017021313.1XP_016876802.1  protein max isoform X2

    UniProtKB/TrEMBL
    G3V302
  3. XM_011536773.3XP_011535075.1  protein max isoform X1

    Conserved Domains (1) summary
    pfam00010
    Location:2475
    HLH; Helix-loop-helix DNA-binding domain

RNA

  1. XR_943450.3 RNA Sequence

  2. XR_943451.3 RNA Sequence

  3. XR_002957553.1 RNA Sequence

  4. XR_001750327.2 RNA Sequence

  5. XR_943452.3 RNA Sequence

  6. XR_001750326.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_145116.1: Suppressed sequence

    Description
    NM_145116.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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