MXD1 - MAX dimerization protein 1 Gene

Homo sapiens

Also known as MAD; MAD1; BHLHC58

Gene ID: 4084 | Gene type: protein coding

About MXD1

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:69,915,109-69,942,945 (from NCBI)

This gene has 6 transcripts (splice variants), 203 orthologues and 4 paralogues. Broad expression in bone marrow (RPKM 58.4), esophagus (RPKM 54.2) and 16 other tissues.

Summary

This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and Apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

MXD1 Products(3)

mRNA	Protein	Name
NM_001202513.2	NP_001189442.1	max dimerization protein 1 isoform 2
NM_001202514.2	NP_001189443.1	max dimerization protein 1 isoform 3
NM_002357.4	NP_002348.1	max dimerization protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	10723141	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	10723141	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17418410	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10723141	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Mad-Max complex	IPI IPI: Inferred from physical interaction	12553908	GOA
located in chromatin	IDA IDA: Inferred from direct assay	12837246	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10723141	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MXD1 Protein Structure

HLH

0
100
200
221 a.a.

Protein Preferred Names

Protein Names

max dimerization protein 1

MAX-binding protein

MXD1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MXD1	Q05195	MAX	Homo sapiens	P61244	Anti Bait CoIP	17418410

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Bladder Sarcoma

Sarcoma Of Bladder

Sarcoma Of The Urinary Bladder

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08861	MXD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MXD1	VGNC	VGNC:31771
Canis familiaris	MXD1	VGNC	VGNC:43513
Felis catus	MXD1	VGNC	VGNC:81126
Macaca mulatta	MXD1	VGNC	VGNC:103836
Mus musculus	MXD1	MGD	MGI:96908
Rattus norvegicus	MXD1	RGD	RGD:1564525

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