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

Gene ID: 83463, updated on 1-Aug-2020

Summary

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
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

Genomic context

See MXD3 in Genome Data Viewer
Location:
5q35.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (177305499..177311898, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176732501..176741096, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene nuclear receptor binding SET domain protein 1 Neighboring gene protein arginine methyltransferase 1 pseudogene 1 Neighboring gene PRELI domain containing 1 Neighboring gene RAB24, member RAS oncogene family Neighboring gene lectin, mannose binding 2 Neighboring gene ribosomal protein S20 pseudogene 17 Neighboring gene regulator of G protein signaling 14

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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: RAB24

Potential readthrough

Included gene: LMAN2

Homology

Clone Names

  • MGC2383, FLJ35523

Gene Ontology Provided by GOA

Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
RNA polymerase II transcription factor complex IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

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)

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_001142935.2NP_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:59114
    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_031300.4NP_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 longer isoform (a).
    Source sequence(s)
    BC000745, BM849150
    Consensus CDS
    CCDS4416.1
    UniProtKB/Swiss-Prot
    Q9BW11
    UniProtKB/TrEMBL
    A0A024R7S0
    Related
    ENSP00000401867.2, ENST00000439742.6
    Conserved Domains (1) summary
    cd00083
    Location:59114
    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, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    177305499..177311898 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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