| Tbio | Nephrin |
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).
This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Kidney disease | 397 | 6.857 | 3.4 |
| Nephroblastoma | 45 | 4.27 | 2.1 |
| diabetes mellitus | 1663 | 4.132 | 2.1 |
| Hypertension | 293 | 3.708 | 1.9 |
| Acute cystitis | 37 | 3.186 | 1.6 |
| Disease | Target Count |
|---|---|
| Nephrotic syndrome 1 | 1 |
| Species | Source |
|---|---|
| Macaque | EggNOG Inparanoid |
| Mouse | EggNOG Inparanoid |
| Rat | EggNOG Inparanoid |
| Dog | EggNOG Inparanoid |
| Horse | EggNOG Inparanoid |
| Cow | EggNOG Inparanoid |
| Opossum | EggNOG Inparanoid |
| Anole lizard | EggNOG Inparanoid |
| Xenopus | EggNOG Inparanoid |
| Zebrafish | EggNOG Inparanoid |
| C. elegans | EggNOG Inparanoid |
| 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. |
| More... |
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 //
| 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. | |
| More... |
