Protein name:
Nephrin ;
Alternative:
Renal glomerulus-specific cell adhesion receptor ;
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Interacts with CD2AP (via C-terminal domain). Interacts with MAGI1 (via PDZ 2 and 3 domains) forming a tripartite complex with IGSF5/JAM4. Interacts with DDN; the interaction is direct. Self-associates (via the Ig-like domains). Also interacts (via the Ig-like domains) with KIRREL/NEPH1 and KIRREL2; the interaction with KIRREL is dependent on KIRREL glycosylation. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1 (By similarity). Interacts with NPHS2.
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.
Subcellular Location:
Cell membrane
Single-pass type I membrane protein
Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.
Protein Attributes:
50:
MALGTTLRAS | LLLLGLLTEG | LAQLAIPASV | PRGFWALPEN | LTVVEGASVE |
100:
LRCGVSTPGS | AVQWAKDGLL | LGPDPRIPGF | PRYRLEGDPA | RGEFHLHIEA |
150:
CDLSDDAEYE | CQVGRSEMGP | ELVSPRVILS | ILVPPKLLLL | TPEAGTMVTW |
200:
VAGQEYVVNC | VSGDAKPAPD | ITILLSGQTI | SDISANVNEG | SQQKLFTVEA |
250:
TARVTPRSSD | NRQLLVCEAS | SPALEAPIKA | SFTVNVLFPP | GPPVIEWPGL |
300:
DEGHVRAGQS | LELPCVARGG | NPLATLQWLK | NGQPVSTAWG | TEHTQAVARS |
350:
VLVMTVRPED | HGAQLSCEAH | NSVSAGTQEH | GITLQVTFPP | SAIIILGSAS |
400:
QTENKNVTLS | CVSKSSRPRV | LLRWWLGWRQ | LLPMEETVMD | GLHGGHISMS |
450:
NLTFLARRED | NGLTLTCEAF | SEAFTKETFK | KSLILNVKYP | AQKLWIEGPP |
500:
EGQKLRAGTR | VRLVCLAIGG | NPEPSLMWYK | DSRTVTESRL | PQESRRVHLG |
550:
SVEKSGSTFS | RELVLVTGPS | DNQAKFTCKA | GQLSASTQLA | VQFPPTNVTI |
600:
LANASALRPG | DALNLTCVSV | SSNPPVNLSW | DKEGERLEGV | AAPPRRAPFK |
650:
GSAAARSVLL | QVSSRDHGQR | VTCRAHSAEL | RETVSSFYRL | NVLYRPEFLG |
700:
EQVLVVTAVE | QGEALLPVSV | SANPAPEAFN | WTFRGYRLSP | AGGPRHRILS |
750:
SGALHLWNVT | RADDGLYQLH | CQNSEGTAEA | RLRLDVHYAP | TIRALQDPTE |
800:
VNVGGSVDIV | CTVDANPILP | GMFNWERLGE | DEEDQSLDDM | EKISRGPTGR |
850:
LRIHHAKLAQ | AGAYQCIVDN | GVAPPARRLL | RLVVRFAPQV | EHPTPLTKVA |
900:
AAGDSTSSAT | LHCRARGVPN | IVFTWTKNGV | PLDLQDPRYT | EHTYHQGGVH |
950:
SSLLTIANVS | AAQDYALFTC | TATNALGSDQ | TNIQLVSISR | PDPPSGLKVV |
1000:
SLTPHSVGLE | WKPGFDGGLP | QRFCIRYEAL | GTPGFHYVDV | VPPQATTFTL |
1050:
TGLQPSTRYR | VWLLASNALG | DSGLADKGTQ | LPITTPGLHQ | PSGEPEDQLP |
1100:
TEPPSGPSGL | PLLPVLFALG | GLLLLSNASC | VGGVLWQRRL | RRLAEGISEK |
1150:
TEAGSEEDRV | RNEYEESQWT | GERDTQSSTV | STTEAEPYYR | SLRDFSPQLP |
1200:
PTQEEVSYSR | GFTGEDEDMA | FPGHLYDEVE | RTYPPSGAWG | PLYDEVQMGP |
1241:
WDLHWPEDTY | QDPRGIYDQV | AGDLDTLEPD | SLPFELRGHL | V
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Rat
Mouse
ELISA Kit for Human Nephrin
ELISA Kit for Human Nephrin
ELISA Kit for Human Nephrin
CLIA Kit for Human Nephrin
CLIA Kit for Human Nephrin
CLIA Kit for Human Nephrin
Polyclonal Antibody for Human Nephrin
Polyclonal Antibody for Human Nephrin
Polyclonal Antibody for Human Nephrin
Monoclonal Antibody for Human Nephrin
Monoclonal Antibody for Human Nephrin
Monoclonal Antibody for Human Nephrin
Protein for Human Nephrin
Protein for Human Nephrin
Protein for Human Nephrin
R&D Technical Data
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Precision
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Recovery
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Linearity
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References
1.
"Positionally cloned gene for a novel glomerular protein -- nephrin --is mutated in congenital nephrotic syndrome."
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[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);INVOLVEMENT IN NPHS1
2.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT LYS-117
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[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
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Nature428:529-535(2004)
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Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
5.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 1032-1134 (ISOFORM 2);SUBCELLULAR LOCATION
6.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : SUBCELLULAR LOCATION
7.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH NPHS2
8.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-432;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue :
Platelet .
9.
"Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations."
Lenkkeri U.
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[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS LYS-117 AND SER-1077;VARIANTS NPHS1 SER-64; ASN-171; THR-172 DEL; ASN-173; 205-THR--ARG-207 DELINS ILE; CYS-270; PRO-350; ARG-366; CYS-367; SER-368; VAL-376; GLN-408; TYR-465; PHE-528; GLN-610; PHE-623; CYS-724; CYS-743; TRP-802; PRO-802; ASP-806; CYS-831 AND CYS-1140
10.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT NPHS1 VAL-819;VARIANT LYS-447
11.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : CHARACTERIZATION OF VARIANTS NPHS1 SER-64; ASN-171; ASN-173; CYS-270; PRO-350; ARG-366; CYS-367; SER-368; VAL-376; GLN-408; TYR-465; PHE-528; GLN-610; PHE-623; CYS-724; CYS-743; TRP-802; PRO-802; ASP-806; CYS-831 AND CYS-1140
12.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS NPHS1 SER-64; ASN-171; THR-172 DEL; ASN-173; CYS-270; PRO-350; ARG-366; CYS-367; LEU-368; SER-368; VAL-376; TRP-379; GLN-408; PHE-417; GLN-460; TYR-465; PHE-528; CYS-558; GLN-610; PHE-623; CYS-724; VAL-739; CYS-743; TRP-802; PRO-802; ASP-806; VAL-819 AND PHE-834;VARIANTS LYS-117; ARG-264; LYS-447; ARG-617; ASP-725; VAL-851 AND SER-1077
13.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS NPHS1 ARG-265 AND MET-822
14.
"Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome."
Philippe A.
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Nevo F.
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Esquivel E.L.
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Reklaityte D.
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Gribouval O.
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Tete M.J.
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J. Am. Soc. Nephrol.19:1871-1878(2008)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS NPHS1 VAL-96; THR-107; GLN-460; GLN-575; PRO-832 AND SER-976;CHARACTERIZATION OF VARIANT NPHS1 PRO-832
15.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS NPHS1 TRP-256; CYS-367; CYS-412; SER-519; ARG-569 AND GLY-709
16.
"Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)."
Schoeb D.S.
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Chernin G.
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Heeringa S.F.
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Matejas V.
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Held S.
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Vega-Warner V.
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Bockenhauer D.
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Vlangos C.N.
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Moorani K.N.
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Neuhaus T.J.
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Kari J.A.
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MacDonald J.
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Saisawat P.
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Ashraf S.
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Ovunc B.
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Zenker M.
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Hildebrandt F.
Nephrol. Dial. Transplant.25:2970-2976(2010)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS NPHS1 VAL-107; LEU-167; THR-172 DEL; 205-THR--ARG-207 DELINS ILE; CYS-299; HIS-340; GLU-347; PRO-350; ARG-366; CYS-367; TRP-407; GLN-408; GLN-460; CYS-558; ASN-572; GLY-586; ARG-587; PHE-623; LYS-673; CYS-681; CYS-743; PRO-910; SER-976 AND CYS-1140
17.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT NPHS1 THR-742;VARIANT LYS-117