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

Gene ID: 4149, updated on 5-May-2024

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; AllianceGenome:HGNC:6913
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
PDMCS; 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
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Genomic context

See MAX in Genome Data Viewer
Location:
14q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (65006101..65102695, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (59210965..59307534, complement)
105.20220307 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 H3K4me1 hESC enhancer GRCh37_chr14:65421611-65422488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65426829-65427347 Neighboring gene RAB15, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5845 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65441391-65442168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:65448241-65448742 Neighboring gene uncharacterized LOC107984655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8540 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:65471811-65473010 Neighboring gene farnesyltransferase, CAAX box, subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5846 Neighboring gene microRNA 4706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:65544121-65545096 Neighboring gene uncharacterized LOC100506321 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:65568306-65568806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8541 Neighboring gene RNA, U2 small nuclear 14, pseudogene Neighboring gene uncharacterized LOC124903329

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-07-20)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-20)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC10775, MGC11225, MGC18164, MGC34679, MGC36767

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of MLL1 complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of Mad-Max complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of Myc-Max complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of RNA polymerase II transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of RNA polymerase II transcription regulator complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of chromatin IDA
Inferred from Direct Assay
more info
PubMed 
part_of chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in dendrite IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 
part_of protein-DNA complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of 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)

NEW Try the new Transcript table

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_001271068.2NP_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, HY018878
    UniProtKB/Swiss-Prot
    P61244
    Conserved Domains (1) summary
    pfam00010
    Location:1549
    HLH; Helix-loop-helix DNA-binding domain
  2. NM_001271069.2NP_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, DB482510
    Conserved Domains (1) summary
    cl00081
    Location:1548
    bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily
  3. NM_001320415.2NP_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)
    AL833643, BC025685
    Consensus CDS
    CCDS81813.1
    UniProtKB/TrEMBL
    G3V302
  4. NM_001407094.1NP_001394023.1  protein max isoform a

    Status: REVIEWED

    Source sequence(s)
    AL139022
    UniProtKB/Swiss-Prot
    A6NH73, A8K265, A8K4G4, A8K824, P25912, P52163, P61244, Q14803, Q96CY8
  5. NM_001407095.1NP_001394024.1  protein max isoform b

    Status: REVIEWED

    Source sequence(s)
    AL139022
  6. NM_001407096.1NP_001394025.1  protein max isoform j

    Status: REVIEWED

    Source sequence(s)
    AL139022
  7. NM_001407097.1NP_001394026.1  protein max isoform j

    Status: REVIEWED

    Source sequence(s)
    AL139022
  8. NM_001407098.1NP_001394027.1  protein max isoform k

    Status: REVIEWED

    Source sequence(s)
    AL139022
    UniProtKB/TrEMBL
    G3V5L1
    Related
    ENSP00000452405.1, ENST00000555419.5
  9. NM_001407099.1NP_001394028.1  protein max isoform l

    Status: REVIEWED

    Source sequence(s)
    AL139022
    UniProtKB/TrEMBL
    G3V563
    Related
    ENSP00000452197.1, ENST00000557746.5
  10. NM_001407100.1NP_001394029.1  protein max isoform l

    Status: REVIEWED

    Source sequence(s)
    AL139022
    UniProtKB/TrEMBL
    G3V563
  11. NM_001407101.1NP_001394030.1  protein max isoform l

    Status: REVIEWED

    Source sequence(s)
    AL139022
    UniProtKB/TrEMBL
    G3V563
  12. NM_001407102.1NP_001394031.1  protein max isoform l

    Status: REVIEWED

    Source sequence(s)
    AL139022
    UniProtKB/TrEMBL
    G3V563
  13. NM_001407103.1NP_001394032.1  protein max isoform c

    Status: REVIEWED

    Source sequence(s)
    AL139022
  14. NM_001407104.1NP_001394033.1  protein max isoform c

    Status: REVIEWED

    Source sequence(s)
    AL139022
  15. NM_001407105.1NP_001394034.1  protein max isoform i

    Status: REVIEWED

    Source sequence(s)
    AL139022
    UniProtKB/TrEMBL
    G3V302
  16. NM_001407106.1NP_001394035.1  protein max isoform i

    Status: REVIEWED

    Source sequence(s)
    AL139022
    UniProtKB/TrEMBL
    G3V302
    Related
    ENSP00000450955.1, ENST00000557277.5
  17. NM_001407107.1NP_001394036.1  protein max isoform i

    Status: REVIEWED

    Source sequence(s)
    AL139022
    UniProtKB/TrEMBL
    G3V302
  18. NM_001407108.1NP_001394037.1  protein max isoform m

    Status: REVIEWED

    Source sequence(s)
    AL139022
    UniProtKB/TrEMBL
    Q6V3B1
  19. NM_001407109.1NP_001394038.1  protein max isoform m

    Status: REVIEWED

    Source sequence(s)
    AL139022
    UniProtKB/TrEMBL
    Q6V3B1
    Related
    ENSP00000452286.1, ENST00000555667.5
  20. NM_001407110.1NP_001394039.1  protein max isoform m

    Status: REVIEWED

    Source sequence(s)
    AL139022
    UniProtKB/TrEMBL
    Q6V3B1
  21. NM_001407111.1NP_001394040.1  protein max isoform n

    Status: REVIEWED

    Source sequence(s)
    AL139022
  22. NM_001407112.1NP_001394041.1  protein max isoform n

    Status: REVIEWED

    Source sequence(s)
    AL139022
  23. NM_001407113.1NP_001394042.1  protein max isoform g

    Status: REVIEWED

    Source sequence(s)
    AL139022
  24. NM_001407114.1NP_001394043.1  protein max isoform o

    Status: REVIEWED

    Source sequence(s)
    AL139022
  25. NM_002382.5NP_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)
    AL833643, BC004516, BC025685
    Consensus CDS
    CCDS9771.1
    UniProtKB/Swiss-Prot
    A6NH73, A8K265, A8K4G4, A8K824, P25912, P52163, P61244, Q14803, Q96CY8
    UniProtKB/TrEMBL
    Q8TAX8
    Related
    ENSP00000351490.4, ENST00000358664.9
    Conserved Domains (1) summary
    cd11406
    Location:2492
    bHLHzip_Max; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in protein Max and similar proteins
  26. NM_145112.3NP_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)
    BC025685, BC027924, BF038005
    Consensus CDS
    CCDS9772.1
    UniProtKB/TrEMBL
    Q8TAX8
    Related
    ENSP00000351175.4, ENST00000358402.8
    Conserved Domains (1) summary
    cd11406
    Location:1583
    bHLHzip_Max; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in protein Max and similar proteins
  27. NM_145113.3NP_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)
    AK290929, AL833643, BC025685, BC027924, X60287
    Consensus CDS
    CCDS41965.1
    Related
    ENSP00000451907.1, ENST00000553928.5
    Conserved Domains (1) summary
    cd11406
    Location:2492
    bHLHzip_Max; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in protein Max and similar proteins
  28. NM_145114.3NP_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, HY018878
    Consensus CDS
    CCDS9774.1
    UniProtKB/Swiss-Prot
    P61244
    Related
    ENSP00000246163.2, ENST00000246163.2
    Conserved Domains (1) summary
    pfam00010
    Location:2458
    HLH; Helix-loop-helix DNA-binding domain
  29. NM_197957.4NP_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, ENST00000341653.6
    Conserved Domains (1) summary
    cl00081
    Location:2457
    bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily

RNA

  1. NR_073137.2 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)
    AL139022
  2. NR_073138.2 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)
    AL139022
  3. NR_176275.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL139022
  4. NR_176276.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL139022
  5. NR_176277.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL139022
  6. NR_176278.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL139022
  7. NR_176279.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL139022
  8. NR_176280.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL139022
  9. NR_176281.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL139022
  10. NR_176282.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL139022
  11. NR_176283.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL139022

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011536773.4XP_011535075.1  protein max isoform X1

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    59210965..59307534 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376084.1XP_054232059.1  protein max isoform X1

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.