DNMBP Gene Summary [Human]

This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Details

Type
Protein Coding
Official Symbol
DNMBP
Official Name
dynamin binding protein [Source:HGNC Symbol;Acc:HGNC:30373]
Ensembl ID
ENSG00000107554
Bio databases IDs NCBI: 23268 Ensembl: ENSG00000107554
Aliases dynamin binding protein, scaffold protein TUBA
Synonyms 2410003L07Rik, 2410003M15Rik, ARHGEF36, CTRCT48, dynamin binding protein, KIAA1010, LOC101927371, TUBA
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 DNMBP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • RhoGEF
  • guanyl-nucleotide exchange factor
  • protein binding
  • BAR domain
  • Bin/Amphiphysin/Rvs domain
  • Dbl homology domain
  • RhoGEF domain
  • Src Homology 3 domain superfamily

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • cataract 48
  • cataract
regulated by
regulates
role in cell
  • number
  • invasiveness
  • formation
  • cell-to-cell spreading
  • formation in
  • cell-to-cell spreading in
  • ruffling
  • lumenization
  • motility

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • presynaptic regions
  • Golgi Apparatus
  • intercellular junctions
  • cytosol
  • Golgi stacks
  • nucleoplasm
  • nucleoli
  • nuclear bodies
  • synaptic vesicles
  • synapse

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • regulation of cell shape
  • cilium morphogenesis
  • regulation of small GTPase mediated signal transduction
  • intracellular signal transduction

Cellular Component

Where in the cell the gene product is active
  • cell-cell junction
  • cytoskeleton
  • cytoplasm
  • cytosol
  • Golgi apparatus
  • synapse
  • Golgi stack

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • guanyl-nucleotide exchange 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.