KIRREL3

The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene

Full Name

kin of IRRE like 3 (Drosophila)

Function

Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target-specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures connecting dentate granule and GABA neurons. Probably acts as a homophilic adhesion molecule that promotes trans-cellular interactions and stabilize mossy fiber filipodia contact and subsequent synapse formation. Required for the coalescence of vomeronasal sensory neuron axons. May be involved in the hematopoietic supportive capacity of stroma cells; the secreted extracellular domain is directly responsible for supporting hematopoietic stem cells.

Biological Process

Cell-cell adhesionManual Assertion Based On ExperimentIBA:GO_Central
Glomerulus morphogenesisIEA:Ensembl
HemopoiesisISS:UniProtKB
Hippocampus developmentISS:UniProtKB
Homophilic cell adhesion via plasma membrane adhesion moleculesISS:UniProtKB
Inter-male aggressive behaviorIEA:Ensembl
Neuron migrationIEA:Ensembl
Neuron projection morphogenesisIEA:Ensembl
Principal sensory nucleus of trigeminal nerve developmentIEA:Ensembl
Synapse assemblyISS:UniProtKB

Cellular Location

Cell membrane
Processed kin of IRRE-like protein 3: Secreted

Involvement in disease

A chromosomal aberration involving KIRREL3 and CDH15 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).

Topology

Extracellular: 22-535
Helical: 536-556
Cytoplasmic: 557-778

PTM

Undergoes proteolysis by a metalloprotease and gives rise to a soluble form.