MXD4 MAX dimerization protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MXD4provided by HGNC
Official Full Name: MAX dimerization protein 4provided by HGNC
Primary source: HGNC:HGNC:13906
See related: Ensembl:ENSG00000123933 MIM:620016; AllianceGenome:HGNC:13906
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: MAD4; MST149; MSTP149; bHLHc12
Summary: This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in fat (RPKM 22.9), spleen (RPKM 18.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p16.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (2247432..2262109, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (2246204..2260881, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (2249159..2263836, complement)

Chromosome 4 - NC_000004.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MXD4/MAD4 Regulates Human Keratinocyte Precursor Fate.
Title: MXD4/MAD4 Regulates Human Keratinocyte Precursor Fate.
Targeting UHRF1-SAP30-MXD4 axis for leukemia initiating cell eradication in myeloid leukemia.
Title: Targeting UHRF1-SAP30-MXD4 axis for leukemia initiating cell eradication in myeloid leukemia.
NUTM1-rearranged colorectal sarcoma: a clinicopathologically and genetically distinctive malignant neoplasm with a poor prognosis.
Title: NUTM1-rearranged colorectal sarcoma: a clinicopathologically and genetically distinctive malignant neoplasm with a poor prognosis.
The E3 ligase activity of c-IAP1 was not required for downregulation of Mad4 expression.
Title: Dissecting the complex regulation of Mad4 in glioblastoma multiforme cells.
regulation by a transcriptional repressor complex that contains Miz-1 and c-Myc
Title: Mad4 is regulated by a transcriptional repressor complex that contains Miz-1 and c-Myc.
Data suggest that the biological function of the interaction between T-complex protein 10-like and MAD4 may be to maintain the differentiation state in liver cells.
Title: Human liver specific transcriptional factor TCP10L binds to MAD4.
replicative senescence-specific factors may block c-Myc inhibition of Miz-1 activation of hMad4 expression, and the continual presence of hMad4 protein may transcriptionally repress selected c-Myc target genes
Title: c-Myc creates an activation loop by transcriptionally repressing its own functional inhibitor, hMad4, in young fibroblasts, a loop lost in replicatively senescent fibroblasts.

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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

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

SHGC-59766 (e-PCR)
- UniSTS:21778

G22538 (e-PCR)
- UniSTS:12894

SHGC-59834 (e-PCR)
- UniSTS:42220

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 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: max dimerization protein 4

Names: Mad4 homolog; class C basic helix-loop-helix protein 12; max dimerizer 4; max-associated protein 4; max-interacting transcriptional repressor MAD4

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_006454.3 → NP_006445.1 max dimerization protein 4

See identical proteins and their annotated locations for NP_006445.1

Status: REVIEWED

Source sequence(s)

AL158068

Consensus CDS

CCDS3361.1

UniProtKB/Swiss-Prot

A2A335, Q14582, Q5TZX4

Related

ENSP00000337889.2, ENST00000337190.7

Conserved Domains (1) summary

cd18929
Location:53 → 140

bHLHzip_Mad4; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in Max-associated protein 4 (Mad4) and similar proteins