ABR Gene Summary [Human]
This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]
Details
| Type | Protein Coding |
| Official Symbol | ABR |
| Official Name | ABR activator of RhoGEF and GTPase [Source:HGNC Symbol;Acc:HGNC:81] |
| Ensembl ID | ENSG00000159842 |
| Bio databases IDs | |
| Aliases | ABR activator of RhoGEF and GTPase |
| Synonyms | ABR activator of RhoGEF and GTPase, active BCR-related gene, GUANINE NUCLEOTIDE REGULATORY, LOC103693389, LOC105371478, LOC687983, MDB |
| Species | Human, Homo sapiens |
| Orthologies |
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 ABR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Bcr-Abl oncoprotein oligomerization domain
- RhoGAP domain
- GTPase activator
- Pleckstrin homology-like domain
- protein binding
- GTPase Activating Protein domain
- GTPase-activator protein for Rho-like GTPases
- RhoGAP
- RhoGEF domain
- RhoGEF
- guanyl-nucleotide exchange factor
- Protein kinase C conserved region 2 (CalB)
- C2 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- cleft lip
- organismal death
- vitiligo
- pancreatic cancer
- hyperactive behavior
- disorder of pregnancy
- gliosis
role in cell
- expression in
- invasion by
- function
- binding in
- molecular cleavage in
- organization
- degranulation
- migration
- migration by
- phagocytosis by
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
- glutaminergic synapse
- organelle
- cell cortex
- Plasma Membrane
- cytosol
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- small GTPase mediated signal transduction
- regulation of small GTPase mediated signal transduction
- regulation of synaptic transmission
Cellular Component
Where in the cell the gene product is active
- dendritic spine
- membrane
- cytosol
- axon
Molecular Function
What the gene product does at the molecular level
- protein binding
- GTPase activator activity
- guanyl-nucleotide exchange factor activity