KLHL17 Gene Summary [Human]

The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]

Details

Type
Protein Coding
Official Symbol
KLHL17
Official Name
kelch like family member 17 [Source:HGNC Symbol;Acc:HGNC:24023]
Ensembl ID
ENSG00000187961
Bio databases IDs NCBI: 339451 Ensembl: ENSG00000187961
Aliases kelch like family member 17, actinfilin
Synonyms AF, AL022703, kelch-like 17, kelch-like family member 17
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 KLHL17 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • actin filament binding
  • Galactose oxidase, central domain
  • Kelch motif
  • BTB And C-terminal Kelch
  • Broad-Complex, Tramtrack and Bric a brac
  • BTB_POZ
  • BTB/POZ domain
  • protein domain specific binding
  • protein binding
  • BACK (BTB and C-terminal Kelch) domain
  • Kelch domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
disease
  • anorectal malformation
role in cell
  • expression in
  • organization

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
  • postsynaptic region
  • actin cytoskeleton
  • perikaryon
  • dendrites
  • postsynaptic density
  • synaptosomal fractions

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human KLHL17 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • actin cytoskeleton organization
  • protein ubiquitination

Cellular Component

Where in the cell the gene product is active
  • postsynaptic density
  • extracellular space
  • dendrite cytoplasm
  • actin cytoskeleton
  • neuronal cell body

Molecular Function

What the gene product does at the molecular level
  • actin filament binding
  • POZ domain binding
  • protein binding
  • binding, bridging

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.