Juvenile nephronophthisis 1 protein

For Research Use Only. Not for use in diagnostic procedures.

E Coli or Yeast or Baculovirus or Mammalian Cell

Greater than 90% as determined by SDS-PAGE. (lot specific)

Liquid containing glycerol

This protein contains an N-terminal tag and may also contain a C-terminal tag. Tag types are determined by various factors including tag-protein stability, please inquire for tag information.

Sterile filter available upon request.

Low endotoxin available upon request.

Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

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Small volumes of NPHP1 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8. Does not se to be strictly required for ciliogenesis. Ses to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movent of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis.

Metabolism

(Note: Representative image, actual molecular weight may vary depending on Tag type and expression host)

40.3kD

nephronophthisis 1 (juvenile)

nephrocystin-1

Nephrocystin-1

NPH1??[Similar Products]

NPHP1_HUMAN

This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NPHP1: Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis. Interacts with BCAR1, PTK2B/PYK2 and tensin. Interacts with INVS and NPHP3. Interacts with PACS1; the interaction is dependent on NPHP1 phosphorylation by CK2. Interatcs with KIF7. Interacts with AHI1 and TNK2. Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L. Interacts with IQCB1; the interaction likely requires additional interactors. Widespread expression, with highest levels in pituitary gland, spinal cord, thyroid gland, testis, skeletal muscle, lymph node and trachea. Weakly expressed in heart, kidney and pancreas. Expressed in nasal epithelial cells. Belongs to the nephrocystin-1 family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell adhesion

Chromosomal Location of Human Ortholog: 2q13

Cellular Component: adherens junction; cytoskeleton; cytosol; intercellular junction; membrane; photoreceptor connecting cilium; tight junction

Molecular Function: protein binding; structural molecule activity

Biological Process: actin cytoskeleton organization and biogenesis; cell projection organization and biogenesis; cell-cell adhesion; excretion; organelle organization and biogenesis; retina development in camera-type eye; signal transduction; spermatid differentiation; visual behavior

Disease: Joubert Syndrome 4; Nephronophthisis 1; Senior-loken Syndrome 1

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.Saunier S., Calado J., Heilig R., Silbermann F., Benessy F., Morin G., Konrad M., Broyer M., Gubler M.-C., Weissenbach J., Antignac C.Hum. Mol. Genet. 6:2317-2323(1997) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.Hildebrandt F., Otto E., Rensing C., Nothwang H.G., Vollmer M., Adolphs J., Hanusch H., Brandis M.Nat. Genet. 17:149-153(1997) Generation and annotation of the DNA sequences of human chromosomes 2 and 4.Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.Nature 434:724-731(2005) Renal-retinal syndromes association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.Caridi G., Murer L., Bellantuono R., Sorino P., Caringella D.A., Gusmano R., Ghiggeri G.M.Am. J. Kidney Dis. 32:1059-1062(1998) The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.Mollet G., Salomon R., Gribouval O., Silbermann F., Bacq D., Landthaler G., Milford D., Nayir A., Rizzoni G., Antignac C., Saunier S.Nat. Genet. 32:300-305(2002) Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.Otto E.A., Schermer B., Obara T., O'Toole J.F., Hiller K.S., Mueller A.M., Ruf R.G., Hoefele J., Beekmann F., Landau D., Foreman J.W., Goodship J.A., Strachan T., Kispert A., Wolf M.T., Gagnadoux M.F., Nivet H., Antignac C., Walz G., Drummond I.A., Benzing T., Hildebrandt F.Nat. Genet. 34:413-420(2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.Olbrich H., Fliegauf M., Hoefele J., Kispert A., Otto E., Volz A., Wolf M.T., Sasmaz G., Trauer U., Reinhardt R., Sudbrak R., Antignac C., Gretz N., Walz G., Schermer B., Benzing T., Hildebrandt F., Omran H.Nat. Genet. 34:455-459(2003) Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia.Schermer B., Hoepker K., Omran H., Ghenoiu C., Fliegauf M., Fekete A., Horvath J., Koettgen M., Hackl M., Zschiedrich S., Huber T.B., Kramer-Zucker A., Zentgraf H., Blaukat A., Walz G., Benzing T.EMBO J. 24:4415-4424(2005) The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.Parisi M.A., Bennett C.L., Eckert M.L., Dobyns W.B., Gleeson J.G., Shaw D.W.W., McDonald R., Eddy A., Chance P.F., Glass I.A.Am. J. Hum. Genet. 75:82-91(2004) Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia.Fliegauf M., Horvath J., von Schnakenburg C., Olbrich H., Mueller D., Thumfart J., Schermer B., Pazour G.J., Neumann H.P., Zentgraf H., Benzing T., Omran H.J. Am. Soc. Nephrol. 17:2424-2433(2006) Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct.Eley L., Moochhala S.H., Simms R., Hildebrandt F., Sayer J.A.Biochem. Biophys. Res. Commun. 371:877-882(2008) Jouberin localizes to collecting ducts and interacts with nephrocystin-1.Eley L., Gabrielides C., Adams M., Johnson C.A., Hildebrandt F., Sayer J.A.Kidney Int. 74:1139-1149(2008) Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals.Wodarczyk C., Distefano G., Rowe I., Gaetani M., Bricoli B., Muorah M., Spitaleri A., Mannella V., Ricchiuto P., Pema M., Castelli M., Casanova A.E., Mollica L., Banzi M., Boca M., Antignac C., Saunier S., Musco G., Boletta A.PLoS ONE 5:E12719-E12719(2010) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A., Baye L.M., Wen X., Scales S.J., Kwong M., Huntzicker E.G., Sfakianos M.K., Sandoval W., Bazan J.F., Kulkarni P., Garcia-Gonzalo F.R., Seol A.D., O'Toole J.F., Held S., Reutter H.M., Lane W.S., Rafiq M.A., Noor A., Ansar M., Devi A.R., Sheffield V.C., Slusarski D.C., Vincent J.B., Doherty D.A., Hildebrandt F., Reiter J.F., Jackson P.K.Cell 145:513-528(2011) Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia.Liebau M.C., Hopker K., Muller R.U., Schmedding I., Zank S., Schairer B., Fabretti F., Hohne M., Bartram M.P., Dafinger C., Hackl M., Burst V., Habbig S., Zentgraf H., Blaukat A., Walz G., Benzing T., Schermer B.J. Biol. Chem. 286:14237-14245(2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.Dafinger C., Liebau M.C., Elsayed S.M., Hellenbroich Y., Boltshauser E., Korenke G.C., Fabretti F., Janecke A.R., Ebermann I., Nurnberg G., Nurnberg P., Zentgraf H., Koerber F., Addicks K., Elsobky E., Benzing T., Schermer B., Bolz H.J.J. Clin. Invest. 121:2662-2667(2011) Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis.le Maire A., Weber T., Saunier S., Broutin I., Antignac C., Ducruix A., Dardel F.Proteins 59:347-355(2005) Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.Betz R., Rensing C., Otto E., Mincheva A., Zehnder D., Lichter P., Hildebrandt F.J. Pediatr. 136:828-831(2000)

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