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

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; 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: mouse all
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Genomic context

Location:: 5q35.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (177305499..177312752, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (177848733..177855986, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (176732500..176739753, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54137 (e-PCR)
- UniSTS:109374

G09547 (e-PCR)
- UniSTS:1647

STS-N94309 (e-PCR)
- UniSTS:42989

RH69707 (e-PCR)
- UniSTS:87545

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
located_in 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)

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, ...
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
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
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