Nephrin Recombinant Protein | NPHS1 recombinant protein

Recombinant Human Nephrin

Cat. Num. AAA116086

• Gene Names: NPHS1; CNF; NPHN; nephrin
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Nephrin; N/A; Recombinant Human Nephrin; Renal glomerulus-specific cell adhesion receptor; NPHS1 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 23-257aa; Partial
• Sequence: QLAIPASVPRGFWALPENLTVVEGASVELRCGVSTPGSAVQWAKDGLLLGPDPRIPGFPRYRLEGDPARGEFHLHIEACDLSDDAEYECQVGRSEMGPELVSPRVILSILVPPKLLLLTPEAGTMVTWVAGQEYVVNCVSGDAKPAPDITILLSGQTISDISANVNEGSQQKLFTVEATARVTPRSSDNRQLLVCEASSPALEAPIKASFTVNVLFPPGPPVIEWPGLDEGHVRA

• Production Note: Special Offer: The E Coli host-expressed protein is manufactured from a stock plasmid containing the protein gene. E Colihost-expressed protein is stocked in different unit sizes ranging from as small as 10 ug to as large as 1 mg. Bulk inventory is also available. The E Coli host-expressed protein has been ordered over and over again by researchers and has stood the test of time as both a robust protein and important target for the research community. It is part of our new program to make our most popular protein targets and corresponding hosts available in expanded unit sizes and with a quick processing time. Select E Coli host-expressed protein for the fastest delivery among all hosts. Please contact our or email to for more details.
• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-PAGE

Related Product Information for NPHS1 recombinant protein

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.

Product Categories/Family for NPHS1 recombinant protein

Cell adhesion

References

Positionally cloned gene for a novel glomerular protein -- nephrin --is mutated in congenital nephrotic syndrome.Kestilae M., Lenkkeri U., Maennikkoe M., Lamerdin J.E., McCready P., Putaala H., Ruotsalainen V., Morita T., Nissinen M., Herva R., Kashtan C.E., Peltonen L., Holmberg C., Olsen A., Tryggvason K.Mol. Cell 1:575-582(1998) Novel human pathological mutations. Gene symbol NPHS1. Disease congenital nephrotic syndrome, Finnish type.Tikhomirov E., Voznesenskaya T., Tsygin A.Hum. Genet. 125:334-334(2009) Human nephrin (NPHS1) cDNA sequence.Grunkemeyer J.A., Kumar N., Kalluri R.The DNA sequence and biology of human chromosome 19.Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.Nature 428:529-535(2004) Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney.Holthoefer H., Ahola H., Solin M.-L., Wang S.-X., Palmen T., Luimula P., Miettinen A., Kerjaschki D.Am. J. Pathol. 155:1681-1687(1999) Nephrin is specifically located at the slit diaphragm of glomerular podocytes.Ruotsalainen V., Ljungberg P., Wartiovaara J., Lenkkeri U., Kestilae M., Jalanko H., Holmberg C., Tryggvason K.Proc. Natl. Acad. Sci. U.S.A. 96:7962-7967(1999) Interaction with podocin facilitates nephrin signaling.Huber T.B., Kottgen M., Schilling B., Walz G., Benzing T.J. Biol. Chem. 276:41543-41546(2001) Phosphoproteome of resting human platelets.Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.J. Proteome Res. 7:526-534(2008) Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations.Lenkkeri U., Maennikkoe M., McCready P., Lamerdin J., Gribouval O., Niaudet P.M., Antignac C.K., Kashtan C.E., Homberg C., Olsen A., Kestilae M., Tryggvason K.Am. J. Hum. Genet. 64:51-61(1999) Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.Aya K., Tanaka H., Seino Y.Kidney Int. 57:401-404(2000) Defective nephrin trafficking caused by missense mutations in the NPHS1 gene insight into the mechanisms of congenital nephrotic syndrome.Liu L., Done S.C., Khoshnoodi J., Bertorello A., Wartiovaara J., Berggren P.O., Tryggvason K.Hum. Mol. Genet. 10:2637-2644(2001) Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.Beltcheva O., Martin P., Lenkkeri U., Tryggvason K.Hum. Mutat. 17:368-373(2001) A familial childhood-onset relapsing nephrotic syndrome.Kitamura A., Tsukaguchi H., Hiramoto R., Shono A., Doi T., Kagami S., Iijima K.Kidney Int. 71:946-951(2007) Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.Philippe A., Nevo F., Esquivel E.L., Reklaityte D., Gribouval O., Tete M.J., Loirat C., Dantal J., Fischbach M., Pouteil-Noble C., Decramer S., Hoehne M., Benzing T., Charbit M., Niaudet P., Antignac C.J. Am. Soc. Nephrol. 19:1871-1878(2008) Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.Heeringa S.F., Vlangos C.N., Chernin G., Hinkes B., Gbadegesin R., Liu J., Hoskins B.E., Ozaltin F., Hildebrandt F.Nephrol. Dial. Transplant. 23:3527-3533(2008) Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS) .Schoeb D.S., Chernin G., Heeringa S.F., Matejas V., Held S., Vega-Warner V., Bockenhauer D., Vlangos C.N., Moorani K.N., Neuhaus T.J., Kari J.A., MacDonald J., Saisawat P., Ashraf S., Ovunc B., Zenker M., Hildebrandt F.Nephrol. Dial. Transplant. 25:2970-2976(2010) Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.Wu L.Q., Hu J.J., Xue J.J., Liang D.S.Genet. Mol. Res. 10:2517-2522(2011) 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)

NCBI and Uniprot Product Information

• NCBI GI #: 4758822
• NCBI GeneID: 4868
• NCBI Accession #: NP_004637.1
• NCBI GenBank Nucleotide #: NM_004646.3
• UniProt Accession #: O60500; A6NDH2; C3RX61
• Molecular Weight: 27.5 kDa
• NCBI Official Full Name: nephrin
• NCBI Official Synonym Full Names: NPHS1 nephrin
• NCBI Official Symbol: NPHS1
• NCBI Official Synonym Symbols: CNF; NPHN; nephrin
• NCBI Protein Information: nephrin
• UniProt Protein Name: Nephrin
• UniProt Gene Name: NPHS1
• UniProt Synonym Gene Names: NPHN
• UniProt Entry Name: NPHN_HUMAN