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

Gene ID: 4149, updated on 26-May-2016
Official Symbol
MAXprovided by HGNC
Official Full Name
MYC associated factor Xprovided by HGNC
Primary source
HGNC:HGNC:6913
See related
Ensembl:ENSG00000125952 HPRD:01113; 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]
Orthologs
Location:
14q23
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105370535 Neighboring gene glutathione peroxidase 2 Neighboring gene RAB15, member RAS oncogene family Neighboring gene farnesyltransferase, CAAX box, beta Neighboring gene microRNA 4706 Neighboring gene uncharacterized LOC100506321 Neighboring gene uncharacterized LOC100128233 Neighboring gene IGF like family receptor 1 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC10775, MGC11225, MGC18164, MGC34679, MGC36767

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex binding IEA
Inferred from Electronic Annotation
more info
 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
transcription cofactor activity TAS
Traceable Author Statement
more info
PubMed 
transcription factor activity, RNA polymerase II core promoter sequence-specific IEA
Inferred from Electronic Annotation
more info
 
transcription factor activity, sequence-specific DNA binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
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 gene expression IEA
Inferred from Electronic Annotation
more info
 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
protein complex assembly IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter 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 from RNA polymerase II promoter 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
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
protein max
Names
class D basic helix-loop-helix protein 4

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
    cd00083
    Location:1248
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  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
    cd00083
    Location:1248
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  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
    UniProtKB/TrEMBL
    G3V302, Q8TAX8
  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, OTTHUMP00000183462, ENST00000358664, OTTHUMT00000286386
    Conserved Domains (1) summary
    cd00083
    Location:2379
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  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, OTTHUMP00000183461, ENST00000358402, OTTHUMT00000286385
    Conserved Domains (1) summary
    cd00083
    Location:1270
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  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, ENST00000618858
    Conserved Domains (1) summary
    cd00083
    Location:2379
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  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, OTTHUMP00000183465, ENST00000246163, OTTHUMT00000286389
    Conserved Domains (1) summary
    cd00083
    Location:2357
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
  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, OTTHUMP00000183463, ENST00000341653, OTTHUMT00000286387
    Conserved Domains (1) summary
    cd00083
    Location:2357
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011536773.1XP_011535075.1  

    Conserved Domains (1) summary
    cd00083
    Location:2379
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RNA

  1. XR_429315.2 RNA Sequence

  2. XR_943451.1 RNA Sequence

  3. XR_943450.1 RNA Sequence

  4. XR_943452.1 RNA Sequence

    Related
    ENST00000557746, OTTHUMT00000414610

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    65411018..65507560 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.