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MXD3 MAX dimerization protein 3 [ Homo sapiens (human) ]

Gene ID: 83463, updated on 7-Apr-2024

Summary

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Official Symbol
MXD3provided by HGNC
Official Full Name
MAX dimerization protein 3provided by HGNC
Primary source
HGNC:HGNC:14008
See related
Ensembl:ENSG00000213347 MIM:609450; AllianceGenome:HGNC:14008
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
MYX; MAD3; BHLHC13
Summary
This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.[provided by RefSeq, Dec 2008]
Expression
Ubiquitous expression in small intestine (RPKM 15.2), colon (RPKM 14.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
5q35.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (177305499..177312752, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (177848733..177855986, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176732500..176739753, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene nuclear receptor binding SET domain protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176692158-176693050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176693051-176693942 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642 Neighboring gene protein arginine methyltransferase 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176722701-176723202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176723203-176723702 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:176727388-176727581 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:176728411-176729610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16677 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176730775-176731652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23703 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176737000-176737866 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23705 Neighboring gene Sharpr-MPRA regulatory region 13731 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176746939-176747440 Neighboring gene PRELI domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176747441-176747940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176751079-176751579 Neighboring gene RAB24, member RAS oncogene family Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:176753137-176754080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176763024-176763649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176765883-176766836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23706 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:176778754-176778968 Neighboring gene lectin, mannose binding 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176784977-176785477 Neighboring gene ribosomal protein S20 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176793955-176794594 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176794595-176795233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176796333-176797184 Neighboring gene regulator of G protein signaling 14

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Novel targeted therapy for neuroblastoma: silencing the MXD3 gene using siRNA. Duong C, et al. Pediatr Res, 2017 Sep. PMID 28419087, Free PMC Article
  2. Loss of MXD3 induces apoptosis of Reh human precursor B acute lymphoblastic leukemia cells. Barisone GA, et al. Blood Cells Mol Dis, 2015 Apr. PMID 25554682, Free PMC Article
  3. MXD3 regulation of DAOY cell proliferation dictated by time course of activation. Ngo T, et al. BMC Cell Biol, 2014 Jul 23. PMID 25053245, Free PMC Article
  4. Role of MXD3 in proliferation of DAOY human medulloblastoma cells. Barisone GA, et al. PLoS One, 2012. PMID 22808009, Free PMC Article
  5. From cerebellar proliferation to tumorigenesis: new insights into the role of Mad3. Barisone GA, et al. Cell Cycle, 2008 Feb 15. PMID 18235219

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MXD3 Promotes Obesity and the Androgen Receptor Signaling Pathway in Gender-Disparity Hepatocarcinogenesis.
    Title: MXD3 Promotes Obesity and the Androgen Receptor Signaling Pathway in Gender-Disparity Hepatocarcinogenesis.
  2. results indicate that MXD3 is a potential new target and that the use of MXD3 siRNA nanocomplexes is a novel therapeutic approach for neuroblastoma
    Title: Novel targeted therapy for neuroblastoma: silencing the MXD3 gene using siRNA.
  3. The results suggest that MXD3 is important for survival of Reh preB ALL cells, possibly as an anti-apoptotic factor.
    Title: Loss of MXD3 induces apoptosis of Reh human precursor B acute lymphoblastic leukemia cells.
  4. Acute MXD3 activation results in a transient increase in DAOY cell proliferation while persistent activation of MXD3 results in an overall decrease in cell number, suggesting that the time course of MXD3 expression dictates the cellular outcome.
    Title: MXD3 regulation of DAOY cell proliferation dictated by time course of activation.
  5. Increased level and/or duration of MXD3 expression ultimately reduces cell numbers via increased cell death and cell cycle arrest in medulloblastoma cells.
    Title: Role of MXD3 in proliferation of DAOY human medulloblastoma cells.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: RAB24

Potential readthrough

Included gene: LMAN2

Homology

Clone Names

  • MGC2383, FLJ35523

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IEA
Inferred from Electronic Annotation
more info
  
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  

General protein information

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Preferred Names
max dimerization protein 3
Names
Max-associated protein 3
Max-interacting transcriptional repressor MAD3
class C basic helix-loop-helix protein 13
max dimerizer 3

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001142935.2 → NP_001136407.1  max dimerization protein 3 isoform b

    See identical proteins and their annotated locations for NP_001136407.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC146507, AK057034
    Consensus CDS
    CCDS47347.1
    UniProtKB/Swiss-Prot
    Q9BW11
    Related
    ENSP00000416921.2, ENST00000427908.6
    Conserved Domains (1) summary
    cd00083
    Location:59 → 114
    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_001394986.1 → NP_001381915.1  max dimerization protein 3 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC146507
    Consensus CDS
    CCDS4416.1
    UniProtKB/Swiss-Prot
    B4E0J1, Q53HK1, Q7Z4Y0, Q8NDJ7, Q96ME3, Q9BW11
    Related
    ENSP00000421463.1, ENST00000513063.5
    Conserved Domains (1) summary
    cd18932
    Location:53 → 137
    bHLHzip_Mad3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in Max-associated protein 3 (Mad3) and similar proteins

  3. NM_001394987.1 → NP_001381916.1  max dimerization protein 3 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC146507
    Conserved Domains (1) summary
    cl00081
    Location:59 → 127
    bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily

  4. NM_031300.4 → NP_112590.1  max dimerization protein 3 isoform a

    See identical proteins and their annotated locations for NP_112590.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 3 both encode the same isoform (a).
    Source sequence(s)
    BC000745, BM849150
    Consensus CDS
    CCDS4416.1
    UniProtKB/Swiss-Prot
    B4E0J1, Q53HK1, Q7Z4Y0, Q8NDJ7, Q96ME3, Q9BW11
    Related
    ENSP00000401867.2, ENST00000439742.7
    Conserved Domains (1) summary
    cd18932
    Location:53 → 137
    bHLHzip_Mad3; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in Max-associated protein 3 (Mad3) and similar proteins

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    177305499..177312752 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    177848733..177855986 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BW11.1 GenPept UniProtKB/Swiss-Prot:Q9BW11

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