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KIRREL1 Rabbit pAb

     
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Product Information
Application
  • Applications Legend:
  • E=ELISA
  • WB=Western Blotting
  • IHC=Immunohistochemistry
  • IHC-P=Immunohistochemistry (Paraffin)
  • IP=Immunoprecipitation
  • IF=Immunofluorescence
  • IC=Immunochemistry
  • ICC=Immunocytochemistry
  • FC=Flow Cytometry
  • DB=Dot Blot
WB, IHC-P, IHC-F, IF, E
Primary Accession Q8IZU9
Other Accession Q8IZU9
Predicted Rat, Human, Mouse
Host Rabbit
Clonality Polyclonal
Calculated MW 85255 Da
Physical State Liquid
Immunogen KLH conjugated synthetic peptide derived from human KIRREL1/NEPH1
Epitope Specificity 301-400/757
Isotype IgG
Purity affinity purified by Protein A
Buffer 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
SIMILARITY Belongs to the immunoglobulin superfamily. Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
SUBUNIT Interacts with the C-terminus of NPHS2/podocin. Interacts with CASK.
Post-translational modifications Phosphorylation probably regulates the interaction with NSH2. Phosphorylated at Tyr-605 and Tyr-606 by FYN, leading to GRB2 binding (By similarity).N-glycosylated (By similarity).
DISEASE Note=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). Defects in KIRREL3 are the cause of mental retardation autosomal dominant type 4 (MRD4) [MIM:612581]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.
Important Note This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Background Descriptions NEPH2 is a 778 amino acid single-pass type I membrane protein that belongs to the nephrin-like protein family and immunoglobulin superfamily. Expressed in both fetal and adult brain, as well as podocytes of kidney glomeruli, NEPH2 contains five Ig-like C2-type (immunoglobulin-like) domains and is thought to plaly a role in the hematopoetic supportive capacity of stroma cells. NEPH2 undergoes alternative splicing to produce two isoforms and contains a C-terminal cytoplasmic domain which it uses to interact with Podocin, a podocyte protein involved in ultrafiltration. Defects in the gene encoding NEPH2 are associated with mental retardation autosomal dominant type 4 (MRD4).
Additional Information
Gene ID 84623
Other Names KIRRE; MRD4; NEPH2; PRO4502; 1500010O20Rik; 2900036G11Rik; SST4; mKIAA1867; KIRR3_HUMAN; KIRREL3; Kin of irregular chiasm-like protein 3; Nephrin-like protein 2; KIAA1867; KIRR3_MOUSE; mKirre; kirre like nephrin family adhesion molecule 3; kin of IRRE like 3 (Drosophila)
Dilution WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ELISA=1:5000-10000
StorageStore at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

For Research Use Only. Not For Use In Diagnostic Procedures.

Protein Information
Name KIRREL3 (HGNC:23204)
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.
Cellular Location Cell membrane; Single-pass type I membrane protein
Tissue Location Expressed in fetal and adult brain (PubMed:19012874). Also expressed in kidney, specifically in podocytes of kidney glomeruli (PubMed:12424224). Also expressed in skeletal muscle (PubMed:25488023).
Research Areas
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