KALRN Gene Summary [Human]
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]
Details
| Type | Protein Coding |
| Official Symbol | KALRN |
| Official Name | kalirin RhoGEF kinase [Source:HGNC Symbol;Acc:HGNC:4814] |
| Ensembl ID | ENSG00000160145 |
| Bio databases IDs | |
| Aliases | kalirin RhoGEF kinase, serine/threonine kinase with Dbl and pleckstrin homology domains |
| Synonyms | 2210407G14RIK, ARHGEF24, CHD5, CHDS5, DUET, DUO, E530005C20RIK, Gm539, HAPIP, Kalirin, Kalirin7, kalirin RhoGEF kinase, kalirin, RhoGEF kinase, KALNC2, Pcip10, TRAD |
| 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 KALRN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain in homologues of a S
- protein serine/threonine kinase
- Fibronectin type 3 domain
- Protein kinase domain
- zDHHC ankyrin repeat binding domain
- GEF domain
- SH3-RhoGEF linking unstructured region
- Immunoglobulin like
- CRAL/TRIO domain
- PH domain
- Tyrosine kinase, catalytic domain
- Dbl homology domain
- SPEC
- exonuclease SbcC
- Protein kinase (unclassified specificity)
- amphipathic helix
- Protein tyrosine and serine/threonine kinase
- immunoglobulin domain
- Immunoglobulin I-set domain
- enzyme binding
- linker domain
- protein binding
- Pleckstrin homology-like domain
- RhoGEF domain
- Src Homology 3 domain superfamily
- kinase
- Serine/Threonine protein kinases, catalytic domain
- Spectrin repeats
- RhoGEF
- Protein Kinases, catalytic domain
- FN3
- Divergent CRAL/TRIO domain
- guanyl-nucleotide exchange factor
- Spectrin repeat
- PXXP motif
- guanine nucleotide exchange factor domain
Pathways
Biological processes and signaling networks where the KALRN 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
- diffuse large B-cell lymphoma
- neuroblastoma
- schizophrenia
- COVID-19
- open-angle glaucoma
- myelin oligodendrocyte glycoprotein induced experimental autoimmune encephalomyelitis
- amyotrophic lateral sclerosis
- androgenic alopecia
- benign rolandic epilepsy
- marginal zone cell lymphoma
role in cell
- migration
- activation in
- growth
- formation
- sprouting
- proliferation
- maturation
- quantity
- length
- retraction
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
- soluble fraction
- postsynaptic density (PSD) fractions
- membrane fraction
- glutaminergic synapse
- presynaptic regions
- perinuclear region
- actin cytoskeleton
- cytosol
- nucleoplasm
- dendritic spines
- neurites
- synaptosomes
- synapse
- perikaryon
- axons
- dendrites
- postsynaptic density
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KALRN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- vesicle-mediated transport
- signal transduction
- regulation of small GTPase mediated signal transduction
- ephrin receptor signaling pathway
- nervous system development
- axon guidance
- protein phosphorylation
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- extracellular vesicular exosome
- cytoplasm
- actin cytoskeleton
- cytosol
- extrinsic to membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- metal ion binding
- guanyl-nucleotide exchange factor activity
- protein serine/threonine kinase activity