MGP Database

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MGP006151

UniProt Annotations

Entry Information
Gene Namekin of IRRE like 3 (Drosophila)
Protein EntryKIRR3_HUMAN
UniProt IDQ8IZU9
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IZU9-1; Sequence=Displayed; Name=2; IsoId=Q8IZU9-2; Sequence=VSP_011799, VSP_011800;
DiseaseMental retardation, autosomal dominant 4 (MRD4) [MIM:612581]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:19012874}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=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).
FunctionCould be involved in the hematopoietic supportive capacity of stroma cells. {ECO:0000250}.
Sequence CautionSequence=AAQ89120.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB47496.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the immunoglobulin superfamily. {ECO:0000305}.
SimilarityContains 5 Ig-like C2-type (immunoglobulin-like) domains. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:19012874}; Single-pass type I membrane protein {ECO:0000269|PubMed:19012874}.
SubunitInteracts with the C-terminus of NPHS2/podocin. Interacts with CASK. {ECO:0000269|PubMed:12424224, ECO:0000269|PubMed:19012874}.
Tissue SpecificityExpressed in fetal and adult brain. Also expressed in kidney, specifically in podocytes of kidney glomeruli. {ECO:0000269|PubMed:12424224, ECO:0000269|PubMed:19012874}.
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