Property Summary

NCBI Gene PubMed Count 125
Grant Count 236
R01 Count 142
Funding $19,215,383.75
PubMed Score 1202.56
PubTator Score 624.65

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession O60500 A6NDH2 C3RX61
Symbols CNF
NPHN
nephrin

Gene

PANTHER Protein Class (1)

PDB

4ZRT  

 GO Function (1)

Gene RIF (112)

PMID Text
26174680 A novel nonsense mutation in NPHS1 linking aortic stenosis associated with congenital nephropathy, is reported.
25652011 Activated IQGAP1, as an intracellular partner of nephrin, is involved in actin cytoskeleton organization and functional regulation of podocytes.
25622599 there is a link found of the glomerular protein nephrin and the antihypertensive action of angiotensin receptor antagonists in the treatment of hypertension.
25599733 NPHS1 rs437168 variant is associated with nephrotic syndrome in children.
25321392 biochemical reconstitution on supported lipid bilayers of protein clusters containing the adhesion receptor Nephrin and its cytoplasmic partners, Nck and N-WASP, is reported.
24948143 Coding variants in NPHS1 are associated with both risk for and protection from common forms of nephropathy in African Americans.
24856380 No pathogenic NPHS1 mutations were found in the cohort of children with steroid-resistant focal segmental glomerulosclerosis.
24848282 Proteinuria in patients with seropositive rheumatoid arthritis is associated with increased levels of urine nephrin excretion, the highest levels of nephrin excretion were registered in patients with glomerulonephritis and amyloidosis.
24529330 In diabetic glomerulosclerosis, glomeruli with crescents contained a mixture of crescentic cells expressing either claudin 1 or nephrin. Rare crescentic cells coexpressed nephrin and claudin 1.
24515388 Phosphorylation of nephrin is important for the survival status of podocytes.
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AA Sequence

MALGTTLRASLLLLGLLTEGLAQLAIPASVPRGFWALPENLTVVEGASVELRCGVSTPGSAVQWAKDGLL      1 - 70
LGPDPRIPGFPRYRLEGDPARGEFHLHIEACDLSDDAEYECQVGRSEMGPELVSPRVILSILVPPKLLLL     71 - 140
TPEAGTMVTWVAGQEYVVNCVSGDAKPAPDITILLSGQTISDISANVNEGSQQKLFTVEATARVTPRSSD    141 - 210
NRQLLVCEASSPALEAPIKASFTVNVLFPPGPPVIEWPGLDEGHVRAGQSLELPCVARGGNPLATLQWLK    211 - 280
NGQPVSTAWGTEHTQAVARSVLVMTVRPEDHGAQLSCEAHNSVSAGTQEHGITLQVTFPPSAIIILGSAS    281 - 350
QTENKNVTLSCVSKSSRPRVLLRWWLGWRQLLPMEETVMDGLHGGHISMSNLTFLARREDNGLTLTCEAF    351 - 420
SEAFTKETFKKSLILNVKYPAQKLWIEGPPEGQKLRAGTRVRLVCLAIGGNPEPSLMWYKDSRTVTESRL    421 - 490
PQESRRVHLGSVEKSGSTFSRELVLVTGPSDNQAKFTCKAGQLSASTQLAVQFPPTNVTILANASALRPG    491 - 560
DALNLTCVSVSSNPPVNLSWDKEGERLEGVAAPPRRAPFKGSAAARSVLLQVSSRDHGQRVTCRAHSAEL    561 - 630
RETVSSFYRLNVLYRPEFLGEQVLVVTAVEQGEALLPVSVSANPAPEAFNWTFRGYRLSPAGGPRHRILS    631 - 700
SGALHLWNVTRADDGLYQLHCQNSEGTAEARLRLDVHYAPTIRALQDPTEVNVGGSVDIVCTVDANPILP    701 - 770
GMFNWERLGEDEEDQSLDDMEKISRGPTGRLRIHHAKLAQAGAYQCIVDNGVAPPARRLLRLVVRFAPQV    771 - 840
EHPTPLTKVAAAGDSTSSATLHCRARGVPNIVFTWTKNGVPLDLQDPRYTEHTYHQGGVHSSLLTIANVS    841 - 910
AAQDYALFTCTATNALGSDQTNIQLVSISRPDPPSGLKVVSLTPHSVGLEWKPGFDGGLPQRFCIRYEAL    911 - 980
GTPGFHYVDVVPPQATTFTLTGLQPSTRYRVWLLASNALGDSGLADKGTQLPITTPGLHQPSGEPEDQLP    981 - 1050
TEPPSGPSGLPLLPVLFALGGLLLLSNASCVGGVLWQRRLRRLAEGISEKTEAGSEEDRVRNEYEESQWT   1051 - 1120
GERDTQSSTVSTTEAEPYYRSLRDFSPQLPPTQEEVSYSRGFTGEDEDMAFPGHLYDEVERTYPPSGAWG   1121 - 1190
PLYDEVQMGPWDLHWPEDTYQDPRGIYDQVAGDLDTLEPDSLPFELRGHLV                      1191 - 1241
//

Text Mined References (132)

PMID Year Title
26560236 2016 NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
26174680 2015 A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?
25804400 2015 SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
25652011 2015 IQGAP1 regulates actin cytoskeleton organization in podocytes through interaction with nephrin.
25622599 2015 Pharmacogenomics of hypertension: a genome?wide, placebo?controlled cross?over study, using four classes of antihypertensive drugs.
25599733 2015 Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children.
25321392 2014 Phase transitions of multivalent proteins can promote clustering of membrane receptors.
24948143 2014 Coding variants in nephrin (NPHS1) and susceptibility to nephropathy in African Americans.
24856380 2014 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
24848282 Urinary excretion of nephrin in rheumatoid arthritis patients with proteinuria.
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