Alternative Name(s):

Renal glomerulus-specific cell adhesion receptor

Species: (Organism)

Homo sapiens (Human)

Gene Names:

NPHS1

Tag info:

N-terminal 6xHis-tagged

Target Protein AA Sequence:

QLAIPASVPRGFWALPENLTVVEGASVELRCGVSTPGSAVQWAKDGLLLGPDPRIPGFPRYRLEGDPARGEFHLHIEACDLSDDAEYECQVGRSEMGPELVSPRVILSILVPPKLLLLTPEAGTMVTWVAGQEYVVNCVSGDAKPAPDITILLSGQTISDISANVNEGSQQKLFTVEATARVTPRSSDNRQLLVCEASSPALEAPIKASFTVNVLFPPGPPVIEWPGLDEGHVRA

Expression Region:

23-257aa

Subcellular Location:

Cell membrane, Single-pass type I membrane protein

Tissue Specificity:

Specifically expressed in podocytes of kidney glomeruli.

Protein Length:

Partial

Pathway:

Mol. Weight:

29.1 kDa

Purity:

Greater than 90% as determined by SDS-PAGE.

Form:

Liquid or Lyophilized powder

Buffer:

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.

Research Areas:

Cell Adhesion

Function:

Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity).

Involvement in disease:

Nephrotic syndrome 1 (NPHS1)

Relevance:

Ses to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion .

Reconstitution:

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Protein Families:

Immunoglobulin superfamily

Reference:

A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.Abid A., Khaliq S., Shahid S., Lanewala A., Mubarak M., Hashmi S., Kazi J., Masood T., Hafeez F., Naqvi S.A., Rizvi S.A., Mehdi S.Q.Gene 502:133-137(2012)