NPHS1
entrez
4868
canonical
uniprot
O60500
canonical
ensembl
ENSG00000161270
resolver
ensp
ENSP00000368190
resolver
genesymbol
NPHS1
resolver
genesymbol_syn
NPHN
resolver
hgnc
HGNC:7908
resolver
uniprot
A6NDH2
resolver
uniprot
C3RX61
resolver
uniprot_entry
NPHN_HUMAN
resolver
uniprot_sec
A6NDH2
resolver
uniprot_sec
C3RX61
resolver
amino_acid_sequence
MALGTTLRASLLLLGLLTEGLAQLAIPASVPRGFWALPENLTVVEGASVELRCGVSTPGSAVQWAKDGLLLGPDPRIPGFPRYRLEGDPARGEFHLHIEACDLSDDAEYECQVGRSEMGPELVSPRVILSILVPPKLLLLTPEAGTMVTWVAGQEYVVNCVSGDAKPAPDITILLSGQTISDISANVNEGSQQKLFTVEATARVTPRSSDNRQLLVCEASSPALEAPIKASFTVNVLFPPGPPVIEWPGLDEGHVRAGQSLELPCVARGGNPLATLQWLKNGQPVSTAWGTEHTQAVARSVLVMTVRPEDHGAQLSCEAHNSVSAGTQEHGITLQVTFPPSAIIILGSASQTENKNVTLSCVSKSSRPRVLLRWWLGWRQLLPMEETVMDGLHGGHISMSNLTFLARREDNGLTLTCEAFSEAFTKETFKKSLILNVKYPAQKLWIEGPPEGQKLRAGTRVRLVCLAIGGNPEPSLMWYKDSRTVTESRLPQESRRVHLGSVEKSGSTFSRELVLVTGPSDNQAKFTCKAGQLSASTQLAVQFPPTNVTILANASALRPGDALNLTCVSVSSNPPVNLSWDKEGERLEGVAAPPRRAPFKGSAAARSVLLQVSSRDHGQRVTCRAHSAELRETVSSFYRLNVLYRPEFLGEQVLVVTAVEQGEALLPVSVSANPAPEAFNWTFRGYRLSPAGGPRHRILSSGALHLWNVTRADDGLYQLHCQNSEGTAEARLRLDVHYAPTIRALQDPTEVNVGGSVDIVCTVDANPILPGMFNWERLGEDEEDQSLDDMEKISRGPTGRLRIHHAKLAQAGAYQCIVDNGVAPPARRLLRLVVRFAPQVEHPTPLTKVAAAGDSTSSATLHCRARGVPNIVFTWTKNGVPLDLQDPRYTEHTYHQGGVHSSLLTIANVSAAQDYALFTCTATNALGSDQTNIQLVSISRPDPPSGLKVVSLTPHSVGLEWKPGFDGGLPQRFCIRYEALGTPGFHYVDVVPPQATTFTLTGLQPSTRYRVWLLASNALGDSGLADKGTQLPITTPGLHQPSGEPEDQLPTEPPSGPSGLPLLPVLFALGGLLLLSNASCVGGVLWQRRLRRLAEGISEKTEAGSEEDRVRNEYEESQWTGERDTQSSTVSTTEAEPYYRSLRDFSPQLPPTQEEVSYSRGFTGEDEDMAFPGHLYDEVERTYPPSGAWGPLYDEVQMGPWDLHWPEDTYQDPRGIYDQVAGDLDTLEPDSLPFELRGHLV
uniprot
proteins
disease_involvement
DISEASE: Nephrotic syndrome 1 (NPHS1) [MIM:256300]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. {ECO:0000269|PubMed:10652016, ECO:0000269|PubMed:11317351, ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:17290294, ECO:0000269|PubMed:18503012, ECO:0000269|PubMed:18614772, ECO:0000269|PubMed:20172850, ECO:0000269|PubMed:20798252, ECO:0000269|PubMed:22009864, ECO:0000269|PubMed:22565185, ECO:0000269|PubMed:22732337, ECO:0000269|PubMed:23595123, ECO:0000269|PubMed:26560236, ECO:0000269|PubMed:9660941, ECO:0000269|PubMed:9915943}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (By similarity). {ECO:0000250|UniProtKB:Q9QZS7, ECO:0000250|UniProtKB:Q9R044}.
uniprot
proteins
mass_dalton
134742
uniprot
proteins
mutagenesis
MUTAGEN 1138; /note="Y->F: Increased mTORC1 complex activation."; /evidence="ECO:0000269|PubMed:28955049
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1 (By similarity). Tyrosine phosphorylation is reduced by high glucose levels (PubMed:28955049). Dephosphorylated by tensin TNS2 which leads to reduced binding of NPHN1 to PIK3R1 (PubMed:28955049). {ECO:0000250|UniProtKB:Q9R044, ECO:0000269|PubMed:28955049}.
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
pubmed
10393930
uniprot
proteins
pubmed
10550324
uniprot
proteins
pubmed
10652016
uniprot
proteins
pubmed
11317351
uniprot
proteins
pubmed
11562357
uniprot
proteins
pubmed
11726550
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
17290294
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18503012
uniprot
proteins
pubmed
18614772
uniprot
proteins
pubmed
19309778
uniprot
proteins
pubmed
20172850
uniprot
proteins
pubmed
20798252
uniprot
proteins
pubmed
22009864
uniprot
proteins
pubmed
22565185
uniprot
proteins
pubmed
22732337
uniprot
proteins
pubmed
23595123
uniprot
proteins
pubmed
25804400
uniprot
proteins
pubmed
26560236
uniprot
proteins
pubmed
28955049
uniprot
proteins
pubmed
29959197
uniprot
proteins
pubmed
9660941
uniprot
proteins
pubmed
9915943
uniprot
proteins
sequence_length
1241
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane. {ECO:0000269|PubMed:10393930, ECO:0000269|PubMed:10550324}.
uniprot
proteins
transmembrane_region
TRANSMEM 1055..1075; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins