MXD1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
MXD1
Official Name
MAX dimerization protein 1 [Source:HGNC Symbol;Acc:HGNC:6761]
Ensembl ID
ENSG00000059728
Bio databases IDs NCBI: 4084 Ensembl: ENSG00000059728
Aliases MAX dimerization protein 1
Synonyms BHLHC58, MAD, MAD1, MAX dimerization protein 1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MXD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • nucleic acid binding
  • Sin3 binding domain
  • basic Helix Loop Helix (bHLH) domain superfamily
  • leucine zipper domain
  • protein binding
  • sequence-specific DNA binding
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
  • transcription repression domain
  • basic helix-loop-helix-leucine zipper domain
  • double-stranded DNA binding
  • helix loop helix domain
  • helix-loop-helix domain
  • Helix-loop-helix DNA-binding domain
  • basic domain

Pathways

Biological processes and signaling networks where the MXD1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • breast carcinoma
  • renal cell cancer
  • diabetes mellitus
  • atrial fibrillation
  • endometriosis
  • primary myelofibrosis
  • Marfan syndrome
  • renal cell carcinoma
  • severe acute respiratory syndrome
  • neoplastic cell transformation
regulated by
regulates
role in cell
  • apoptosis
  • expression in
  • proliferation
  • colony formation
  • differentiation
  • growth
  • quantity
  • G1 phase
  • migration
  • transformation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • Cytoplasm
  • Mitochondria
  • cytosol
  • nucleoplasm
  • centromeres
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MXD1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of transcription from RNA polymerase II promoter
  • regulation of transcription from RNA polymerase II promoter

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • mitochondrion
  • cytosol
  • Mad-Max complex
  • chromatin
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • protein dimerization activity
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
  • sequence-specific DNA binding RNA polymerase II transcription factor activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.