U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 4149, updated on 3-Apr-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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.