NPHN_HUMAN
ID NPHN_HUMAN Reviewed; 1241 AA.
AC O60500; A6NDH2; C3RX61;
DT 16-APR-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-AUG-1998, sequence version 1.
DT 03-AUG-2022, entry version 192.
DE RecName: Full=Nephrin;
DE AltName: Full=Renal glomerulus-specific cell adhesion receptor;
DE Flags: Precursor;
GN Name=NPHS1; Synonyms=NPHN;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND INVOLVEMENT IN NPHS1.
RX PubMed=9660941; DOI=10.1016/s1097-2765(00)80057-x;
RA Kestilae M., Lenkkeri U., Maennikkoe M., Lamerdin J.E., McCready P.,
RA Putaala H., Ruotsalainen V., Morita T., Nissinen M., Herva R.,
RA Kashtan C.E., Peltonen L., Holmberg C., Olsen A., Tryggvason K.;
RT "Positionally cloned gene for a novel glomerular protein -- nephrin -- is
RT mutated in congenital nephrotic syndrome.";
RL Mol. Cell 1:575-582(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT LYS-117.
RX PubMed=19309778;
RA Tikhomirov E., Voznesenskaya T., Tsygin A.;
RT "Novel human pathological mutations. Gene symbol: NPHS1. Disease:
RT congenital nephrotic syndrome, Finnish type.";
RL Hum. Genet. 125:334-334(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Grunkemeyer J.A., Kumar N., Kalluri R.;
RT "Human nephrin (NPHS1) cDNA sequence.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1032-1134 (ISOFORM 2), AND SUBCELLULAR
RP LOCATION.
RX PubMed=10550324; DOI=10.1016/s0002-9440(10)65483-1;
RA Holthoefer H., Ahola H., Solin M.-L., Wang S.-X., Palmen T., Luimula P.,
RA Miettinen A., Kerjaschki D.;
RT "Nephrin localizes at the podocyte filtration slit area and is
RT characteristically spliced in the human kidney.";
RL Am. J. Pathol. 155:1681-1687(1999).
RN [6]
RP SUBCELLULAR LOCATION.
RX PubMed=10393930; DOI=10.1073/pnas.96.14.7962;
RA Ruotsalainen V., Ljungberg P., Wartiovaara J., Lenkkeri U., Kestilae M.,
RA Jalanko H., Holmberg C., Tryggvason K.;
RT "Nephrin is specifically located at the slit diaphragm of glomerular
RT podocytes.";
RL Proc. Natl. Acad. Sci. U.S.A. 96:7962-7967(1999).
RN [7]
RP INTERACTION WITH NPHS2.
RX PubMed=11562357; DOI=10.1074/jbc.c100452200;
RA Huber T.B., Kottgen M., Schilling B., Walz G., Benzing T.;
RT "Interaction with podocin facilitates nephrin signaling.";
RL J. Biol. Chem. 276:41543-41546(2001).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-432, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Platelet;
RX PubMed=18088087; DOI=10.1021/pr0704130;
RA Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J.,
RA Schuetz C., Walter U., Gambaryan S., Sickmann A.;
RT "Phosphoproteome of resting human platelets.";
RL J. Proteome Res. 7:526-534(2008).
RN [9]
RP VARIANTS LYS-117; GLN-408 AND SER-1077, AND VARIANTS NPHS1 SER-64; ASN-171;
RP THR-172 DEL; ASN-173; 205-THR--ARG-207 DELINS ILE; CYS-270; PRO-350;
RP ARG-366; CYS-367; SER-368; VAL-376; TYR-465; PHE-528; GLN-610; PHE-623;
RP CYS-724; CYS-743; TRP-802; PRO-802; ASP-806; CYS-831 AND CYS-1140.
RX PubMed=9915943; DOI=10.1086/302182;
RA Lenkkeri U., Maennikkoe M., McCready P., Lamerdin J., Gribouval O.,
RA Niaudet P.M., Antignac C.K., Kashtan C.E., Homberg C., Olsen A.,
RA Kestilae M., Tryggvason K.;
RT "Structure of the gene for congenital nephrotic syndrome of the Finnish
RT type (NPHS1) and characterization of mutations.";
RL Am. J. Hum. Genet. 64:51-61(1999).
RN [10]
RP VARIANT NPHS1 VAL-819, AND VARIANT LYS-447.
RX PubMed=10652016; DOI=10.1046/j.1523-1755.2000.00859.x;
RA Aya K., Tanaka H., Seino Y.;
RT "Novel mutation in the nephrin gene of a Japanese patient with congenital
RT nephrotic syndrome of the Finnish type.";
RL Kidney Int. 57:401-404(2000).
RN [11]
RP CHARACTERIZATION OF VARIANTS NPHS1 SER-64; ASN-171; ASN-173; CYS-270;
RP PRO-350; ARG-366; CYS-367; SER-368; VAL-376; TYR-465; PHE-528; GLN-610;
RP PHE-623; CYS-724; CYS-743; TRP-802; PRO-802; ASP-806; CYS-831 AND CYS-1140,
RP AND CHARACTERIZATION OF VARIANT GLN-408.
RX PubMed=11726550; DOI=10.1093/hmg/10.23.2637;
RA Liu L., Done S.C., Khoshnoodi J., Bertorello A., Wartiovaara J.,
RA Berggren P.O., Tryggvason K.;
RT "Defective nephrin trafficking caused by missense mutations in the NPHS1
RT gene: insight into the mechanisms of congenital nephrotic syndrome.";
RL Hum. Mol. Genet. 10:2637-2644(2001).
RN [12]
RP VARIANTS NPHS1 SER-64; ASN-171; THR-172 DEL; ASN-173; CYS-270; PRO-350;
RP ARG-366; CYS-367; LEU-368; SER-368; VAL-376; TRP-379; PHE-417; GLN-460;
RP TYR-465; PHE-528; CYS-558; GLN-610; PHE-623; CYS-724; VAL-739; CYS-743;
RP TRP-802; PRO-802; ASP-806; VAL-819 AND PHE-834, AND VARIANTS LYS-117;
RP ARG-264; GLN-408; LYS-447; ARG-617; ASP-725; VAL-851 AND SER-1077.
RX PubMed=11317351; DOI=10.1002/humu.1111;
RA Beltcheva O., Martin P., Lenkkeri U., Tryggvason K.;
RT "Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic
RT syndrome.";
RL Hum. Mutat. 17:368-373(2001).
RN [13]
RP VARIANTS NPHS1 ARG-265 AND MET-822.
RX PubMed=17290294; DOI=10.1038/sj.ki.5002110;
RA Kitamura A., Tsukaguchi H., Hiramoto R., Shono A., Doi T., Kagami S.,
RA Iijima K.;
RT "A familial childhood-onset relapsing nephrotic syndrome.";
RL Kidney Int. 71:946-951(2007).
RN [14]
RP VARIANTS NPHS1 VAL-96; THR-107; GLN-460; GLN-575; PRO-832 AND SER-976, AND
RP CHARACTERIZATION OF VARIANT NPHS1 PRO-832.
RX PubMed=18614772; DOI=10.1681/asn.2008010059;
RA Philippe A., Nevo F., Esquivel E.L., Reklaityte D., Gribouval O.,
RA Tete M.J., Loirat C., Dantal J., Fischbach M., Pouteil-Noble C.,
RA Decramer S., Hoehne M., Benzing T., Charbit M., Niaudet P., Antignac C.;
RT "Nephrin mutations can cause childhood-onset steroid-resistant nephrotic
RT syndrome.";
RL J. Am. Soc. Nephrol. 19:1871-1878(2008).
RN [15]
RP VARIANTS NPHS1 TRP-256; CYS-367; CYS-412; SER-519; ARG-569 AND GLY-709.
RX PubMed=18503012; DOI=10.1093/ndt/gfn271;
RA Heeringa S.F., Vlangos C.N., Chernin G., Hinkes B., Gbadegesin R., Liu J.,
RA Hoskins B.E., Ozaltin F., Hildebrandt F.;
RT "Thirteen novel NPHS1 mutations in a large cohort of children with
RT congenital nephrotic syndrome.";
RL Nephrol. Dial. Transplant. 23:3527-3533(2008).
RN [16]
RP VARIANTS NPHS1 VAL-107; LEU-167; THR-172 DEL; 205-THR--ARG-207 DELINS ILE;
RP CYS-299; HIS-340; GLU-347; PRO-350; ARG-366; CYS-367; TRP-407; GLN-460;
RP CYS-558; ASN-572; GLY-586; ARG-587; PHE-623; LYS-673; CYS-681; CYS-743;
RP PRO-910; SER-976 AND CYS-1140, AND VARIANT GLN-408.
RX PubMed=20172850; DOI=10.1093/ndt/gfq088;
RA Schoeb D.S., Chernin G., Heeringa S.F., Matejas V., Held S.,
RA Vega-Warner V., Bockenhauer D., Vlangos C.N., Moorani K.N., Neuhaus T.J.,
RA Kari J.A., MacDonald J., Saisawat P., Ashraf S., Ovunc B., Zenker M.,
RA Hildebrandt F.;
RT "Nineteen novel NPHS1 mutations in a worldwide cohort of patients with
RT congenital nephrotic syndrome (CNS).";
RL Nephrol. Dial. Transplant. 25:2970-2976(2010).
RN [17]
RP VARIANT NPHS1 THR-742, AND VARIANT LYS-117.
RX PubMed=22009864; DOI=10.4238/2011.october.18.1;
RA Wu L.Q., Hu J.J., Xue J.J., Liang D.S.;
RT "Two novel NPHS1 mutations in a Chinese family with congenital nephrotic
RT syndrome.";
RL Genet. Mol. Res. 10:2517-2522(2011).
RN [18]
RP VARIANTS NPHS1 GLU-107; THR-172 DEL; ILE-188; 205-THR--ARG-207 DELINS ILE;
RP SER-567; PHE-623; VAL-851 AND CYS-1096.
RX PubMed=20798252; DOI=10.2215/cjn.01190210;
RA Buescher A.K., Kranz B., Buescher R., Hildebrandt F., Dworniczak B.,
RA Pennekamp P., Kuwertz-Broeking E., Wingen A.M., John U., Kemper M.,
RA Monnens L., Hoyer P.F., Weber S., Konrad M.;
RT "Immunosuppression and renal outcome in congenital and pediatric steroid-
RT resistant nephrotic syndrome.";
RL Clin. J. Am. Soc. Nephrol. 5:2075-2084(2010).
RN [19]
RP VARIANTS NPHS1 LEU-368 AND CYS-412.
RX PubMed=22732337; DOI=10.5414/cn107320;
RA Buescher A.K., Konrad M., Nagel M., Witzke O., Kribben A., Hoyer P.F.,
RA Weber S.;
RT "Mutations in podocyte genes are a rare cause of primary FSGS associated
RT with ESRD in adult patients.";
RL Clin. Nephrol. 78:47-53(2012).
RN [20]
RP VARIANTS NPHS1 ILE-188; LYS-189; PRO-237; TRP-256; ARG-264; ILE-294;
RP ILE-608; THR-912; ASN-1016 AND VAL-1020, AND VARIANT GLN-408.
RX PubMed=22565185; DOI=10.1016/j.gene.2012.04.063;
RA Abid A., Khaliq S., Shahid S., Lanewala A., Mubarak M., Hashmi S., Kazi J.,
RA Masood T., Hafeez F., Naqvi S.A., Rizvi S.A., Mehdi S.Q.;
RT "A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic
RT syndrome patients from Pakistan.";
RL Gene 502:133-137(2012).
RN [21]
RP VARIANT NPHS1 ARG-264.
RX PubMed=25804400; DOI=10.1038/ejhg.2015.46;
RA Evers C., Paramasivam N., Hinderhofer K., Fischer C., Granzow M.,
RA Schmidt-Bacher A., Eils R., Steinbeisser H., Schlesner M., Moog U.;
RT "SIPA1L3 identified by linkage analysis and whole-exome sequencing as a
RT novel gene for autosomal recessive congenital cataract.";
RL Eur. J. Hum. Genet. 23:1627-1633(2015).
RN [22]
RP VARIANTS NPHS1 THR-172 DEL; ARG-264; ASN-446; HIS-711 AND MET-736, AND
RP VARIANT SER-1077.
RX PubMed=26560236; DOI=10.1111/nep.12667;
RA Guaragna M.S., Cleto T.L., Souza M.L., Lutaif A.C., de Castro L.C.,
RA Penido M.G., Maciel-Guerra A.T., Belangero V.M., Guerra-Junior G.,
RA De Mello M.P.;
RT "NPHS1 gene mutations confirm congenital nephrotic syndrome in four
RT Brazilian cases: a novel mutation is described.";
RL Nephrology 21:753-757(2016).
CC -!- FUNCTION: Seems to play a role in the development or function of the
CC kidney glomerular filtration barrier. Regulates glomerular vascular
CC permeability. May anchor the podocyte slit diaphragm to the actin
CC cytoskeleton. Plays a role in skeletal muscle formation through
CC regulation of myoblast fusion (By similarity).
CC {ECO:0000250|UniProtKB:Q9QZS7, ECO:0000250|UniProtKB:Q9R044}.
CC -!- SUBUNIT: Interacts with CD2AP (via C-terminal domain). Interacts with
CC MAGI1 (via PDZ 2 and 3 domains) forming a tripartite complex with
CC IGSF5/JAM4. Interacts with DDN; the interaction is direct. Self-
CC associates (via the Ig-like domains). Also interacts (via the Ig-like
CC domains) with KIRREL1/NEPH1 and KIRREL2; the interaction with KIRREL1
CC is dependent on KIRREL1 glycosylation. Interacts with KIRREL3. Forms a
CC complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1 (By
CC similarity). Interacts with NPHS2 (PubMed:11562357).
CC {ECO:0000250|UniProtKB:Q9QZS7, ECO:0000250|UniProtKB:Q9R044,
CC ECO:0000269|PubMed:11562357}.
CC -!- INTERACTION:
CC O60500; P46940: IQGAP1; NbExp=5; IntAct=EBI-996920, EBI-297509;
CC O60500; P16333: NCK1; NbExp=3; IntAct=EBI-996920, EBI-389883;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}. Note=Predominantly located at podocyte
CC slit diaphragm between podocyte foot processes. Also associated with
CC podocyte apical plasma membrane. {ECO:0000269|PubMed:10393930,
CC ECO:0000269|PubMed:10550324}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O60500-1; Sequence=Displayed;
CC Name=2; Synonyms=Alpha;
CC IsoId=O60500-2; Sequence=VSP_002598;
CC -!- TISSUE SPECIFICITY: Specifically expressed in podocytes of kidney
CC glomeruli.
CC -!- DEVELOPMENTAL STAGE: In 23-week-old embryo found in epithelial
CC podocytes of the periphery of mature and developing glomeruli.
CC -!- PTM: Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and
CC activation of phospholipase C-gamma-1/PLCG1. {ECO:0000250}.
CC -!- DISEASE: Nephrotic syndrome 1 (NPHS1) [MIM:256300]: A form of nephrotic
CC syndrome, a renal disease clinically characterized by severe
CC proteinuria, resulting in complications such as hypoalbuminemia,
CC hyperlipidemia and edema. Kidney biopsies show non-specific histologic
CC changes such as focal segmental glomerulosclerosis and diffuse
CC mesangial proliferation. Some affected individuals have an inherited
CC steroid-resistant form and progress to end-stage renal failure.
CC {ECO:0000269|PubMed:10652016, ECO:0000269|PubMed:11317351,
CC ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:17290294,
CC ECO:0000269|PubMed:18503012, ECO:0000269|PubMed:18614772,
CC ECO:0000269|PubMed:20172850, ECO:0000269|PubMed:20798252,
CC ECO:0000269|PubMed:22009864, ECO:0000269|PubMed:22565185,
CC ECO:0000269|PubMed:22732337, ECO:0000269|PubMed:25804400,
CC ECO:0000269|PubMed:26560236, ECO:0000269|PubMed:9660941,
CC ECO:0000269|PubMed:9915943}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the immunoglobulin superfamily. {ECO:0000305}.
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DR EMBL; AF035835; AAC39687.1; -; mRNA.
DR EMBL; EU642886; ACH99862.1; -; mRNA.
DR EMBL; AF190637; AAG17141.1; -; mRNA.
DR EMBL; AC002133; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF126957; AAF36451.1; -; mRNA.
DR CCDS; CCDS32996.1; -. [O60500-1]
DR PIR; T37190; T37190.
DR RefSeq; NP_004637.1; NM_004646.3. [O60500-1]
DR PDB; 4ZRT; X-ray; 1.74 A; B=1188-1198.
DR PDBsum; 4ZRT; -.
DR AlphaFoldDB; O60500; -.
DR SMR; O60500; -.
DR BioGRID; 110928; 26.
DR DIP; DIP-36424N; -.
DR ELM; O60500; -.
DR IntAct; O60500; 9.
DR STRING; 9606.ENSP00000368190; -.
DR TCDB; 8.A.23.1.33; the basigin (basigin) family.
DR GlyGen; O60500; 10 sites.
DR iPTMnet; O60500; -.
DR PhosphoSitePlus; O60500; -.
DR BioMuta; NPHS1; -.
DR EPD; O60500; -.
DR MassIVE; O60500; -.
DR PaxDb; O60500; -.
DR PeptideAtlas; O60500; -.
DR PRIDE; O60500; -.
DR ProteomicsDB; 49436; -. [O60500-1]
DR ProteomicsDB; 49437; -. [O60500-2]
DR Antibodypedia; 29541; 780 antibodies from 40 providers.
DR DNASU; 4868; -.
DR Ensembl; ENST00000353632.6; ENSP00000343634.5; ENSG00000161270.20. [O60500-2]
DR Ensembl; ENST00000378910.10; ENSP00000368190.4; ENSG00000161270.20. [O60500-1]
DR GeneID; 4868; -.
DR KEGG; hsa:4868; -.
DR MANE-Select; ENST00000378910.10; ENSP00000368190.4; NM_004646.4; NP_004637.1.
DR UCSC; uc002oby.4; human. [O60500-1]
DR CTD; 4868; -.
DR DisGeNET; 4868; -.
DR GeneCards; NPHS1; -.
DR HGNC; HGNC:7908; NPHS1.
DR HPA; ENSG00000161270; Group enriched (kidney, pancreas).
DR MalaCards; NPHS1; -.
DR MIM; 256300; phenotype.
DR MIM; 602716; gene.
DR neXtProt; NX_O60500; -.
DR OpenTargets; ENSG00000161270; -.
DR Orphanet; 839; Congenital nephrotic syndrome, Finnish type.
DR Orphanet; 656; Genetic steroid-resistant nephrotic syndrome.
DR PharmGKB; PA31709; -.
DR VEuPathDB; HostDB:ENSG00000161270; -.
DR eggNOG; KOG3515; Eukaryota.
DR GeneTree; ENSGT00940000159510; -.
DR HOGENOM; CLU_003881_0_1_1; -.
DR InParanoid; O60500; -.
DR OMA; CEVSNIM; -.
DR OrthoDB; 269917at2759; -.
DR PhylomeDB; O60500; -.
DR TreeFam; TF327139; -.
DR PathwayCommons; O60500; -.
DR Reactome; R-HSA-373753; Nephrin family interactions.
DR SignaLink; O60500; -.
DR SIGNOR; O60500; -.
DR BioGRID-ORCS; 4868; 91 hits in 1071 CRISPR screens.
DR ChiTaRS; NPHS1; human.
DR GeneWiki; Nephrin; -.
DR GenomeRNAi; 4868; -.
DR Pharos; O60500; Tbio.
DR PRO; PR:O60500; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; O60500; protein.
DR Bgee; ENSG00000161270; Expressed in buccal mucosa cell and 117 other tissues.
DR Genevisible; O60500; HS.
DR GO; GO:0042995; C:cell projection; IEA:Ensembl.
DR GO; GO:0005911; C:cell-cell junction; IBA:GO_Central.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005925; C:focal adhesion; IEA:Ensembl.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0036057; C:slit diaphragm; ISS:UniProtKB.
DR GO; GO:0050839; F:cell adhesion molecule binding; IBA:GO_Central.
DR GO; GO:0017022; F:myosin binding; IPI:UniProtKB.
DR GO; GO:0098609; P:cell-cell adhesion; IBA:GO_Central.
DR GO; GO:0032836; P:glomerular basement membrane development; IEP:UniProtKB.
DR GO; GO:0007254; P:JNK cascade; IEA:Ensembl.
DR GO; GO:0007520; P:myoblast fusion; IEA:Ensembl.
DR GO; GO:0072015; P:podocyte development; IEP:UniProtKB.
DR GO; GO:0030838; P:positive regulation of actin filament polymerization; IEA:Ensembl.
DR GO; GO:0035418; P:protein localization to synapse; IGI:UniProtKB.
DR GO; GO:0007519; P:skeletal muscle tissue development; IEA:Ensembl.
DR GO; GO:0036060; P:slit diaphragm assembly; ISS:UniProtKB.
DR CDD; cd00063; FN3; 1.
DR Gene3D; 2.60.40.10; -; 10.
DR InterPro; IPR013162; CD80_C2-set.
DR InterPro; IPR003961; FN3_dom.
DR InterPro; IPR036116; FN3_sf.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR013098; Ig_I-set.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR Pfam; PF08205; C2-set_2; 5.
DR Pfam; PF00041; fn3; 1.
DR Pfam; PF07679; I-set; 1.
DR SMART; SM00060; FN3; 1.
DR SMART; SM00409; IG; 8.
DR SMART; SM00408; IGc2; 7.
DR SUPFAM; SSF48726; SSF48726; 9.
DR SUPFAM; SSF49265; SSF49265; 1.
DR PROSITE; PS50853; FN3; 1.
DR PROSITE; PS50835; IG_LIKE; 7.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cell adhesion; Cell membrane;
KW Developmental protein; Disease variant; Disulfide bond; Glycoprotein;
KW Immunoglobulin domain; Membrane; Myogenesis; Phosphoprotein;
KW Reference proteome; Repeat; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..22
FT /evidence="ECO:0000255"
FT CHAIN 23..1241
FT /note="Nephrin"
FT /id="PRO_0000015052"
FT TOPO_DOM 23..1055
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 1056..1076
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1077..1241
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 27..130
FT /note="Ig-like C2-type 1"
FT DOMAIN 143..234
FT /note="Ig-like C2-type 2"
FT DOMAIN 242..333
FT /note="Ig-like C2-type 3"
FT DOMAIN 340..434
FT /note="Ig-like C2-type 4"
FT DOMAIN 440..540
FT /note="Ig-like C2-type 5"
FT DOMAIN 544..635
FT /note="Ig-like C2-type 6"
FT DOMAIN 740..832
FT /note="Ig-like C2-type 7"
FT DOMAIN 838..939
FT /note="Ig-like C2-type 8"
FT DOMAIN 943..1038
FT /note="Fibronectin type-III"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT REGION 1025..1057
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1099..1137
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1160..1241
FT /note="Binds to NPHS2"
FT COMPBIAS 1099..1120
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1121..1136
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 432
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18088087"
FT MOD_RES 1098
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9R044"
FT MOD_RES 1101
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q9R044"
FT MOD_RES 1105
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9R044"
FT MOD_RES 1193
FT /note="Phosphotyrosine; by FYN"
FT /evidence="ECO:0000250|UniProtKB:Q9R044"
FT CARBOHYD 40
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 356
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 401
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 547
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 553
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 564
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 577
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 680
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 708
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 908
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 53..111
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 160..217
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 265..317
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 361..417
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 465..528
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 567..623
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 761..816
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 863..920
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VAR_SEQ 1056..1095
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10550324"
FT /id="VSP_002598"
FT VARIANT 64
FT /note="W -> S (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833897)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:9915943"
FT /id="VAR_013029"
FT VARIANT 96
FT /note="L -> V (in NPHS1; dbSNP:rs386833929)"
FT /evidence="ECO:0000269|PubMed:18614772"
FT /id="VAR_064194"
FT VARIANT 107
FT /note="A -> E (in NPHS1; dbSNP:rs386833934)"
FT /evidence="ECO:0000269|PubMed:20798252"
FT /id="VAR_079794"
FT VARIANT 107
FT /note="A -> T (in NPHS1; dbSNP:rs386833933)"
FT /evidence="ECO:0000269|PubMed:18614772"
FT /id="VAR_064195"
FT VARIANT 107
FT /note="A -> V (in NPHS1; dbSNP:rs386833934)"
FT /evidence="ECO:0000269|PubMed:20172850"
FT /id="VAR_064196"
FT VARIANT 117
FT /note="E -> K (in dbSNP:rs3814995)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:19309778, ECO:0000269|PubMed:22009864,
FT ECO:0000269|PubMed:9915943"
FT /id="VAR_013030"
FT VARIANT 167
FT /note="P -> L (in NPHS1; dbSNP:rs386833945)"
FT /evidence="ECO:0000269|PubMed:20172850"
FT /id="VAR_064197"
FT VARIANT 171
FT /note="I -> N (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833946)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:9915943"
FT /id="VAR_013031"
FT VARIANT 172
FT /note="Missing (in NPHS1)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:20172850, ECO:0000269|PubMed:20798252,
FT ECO:0000269|PubMed:26560236, ECO:0000269|PubMed:9915943"
FT /id="VAR_013032"
FT VARIANT 173
FT /note="I -> N (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833949)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:9915943"
FT /id="VAR_013033"
FT VARIANT 188
FT /note="N -> I (in NPHS1; dbSNP:rs145125791)"
FT /evidence="ECO:0000269|PubMed:20798252,
FT ECO:0000269|PubMed:22565185"
FT /id="VAR_072375"
FT VARIANT 189
FT /note="E -> K (in NPHS1; dbSNP:rs139598219)"
FT /evidence="ECO:0000269|PubMed:22565185"
FT /id="VAR_072376"
FT VARIANT 205..207
FT /note="TPR -> I (in NPHS1)"
FT /evidence="ECO:0000269|PubMed:20172850,
FT ECO:0000269|PubMed:20798252, ECO:0000269|PubMed:9915943"
FT /id="VAR_013034"
FT VARIANT 233
FT /note="T -> A (in dbSNP:rs35238405)"
FT /id="VAR_049970"
FT VARIANT 237
FT /note="L -> P (in NPHS1; dbSNP:rs373835033)"
FT /evidence="ECO:0000269|PubMed:22565185"
FT /id="VAR_072161"
FT VARIANT 256
FT /note="R -> W (in NPHS1; dbSNP:rs386833960)"
FT /evidence="ECO:0000269|PubMed:18503012,
FT ECO:0000269|PubMed:22565185"
FT /id="VAR_064198"
FT VARIANT 264
FT /note="P -> R (in NPHS1; unknown pathological significance;
FT dbSNP:rs34982899)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:22565185, ECO:0000269|PubMed:25804400,
FT ECO:0000269|PubMed:26560236"
FT /id="VAR_064199"
FT VARIANT 265
FT /note="C -> R (in NPHS1; dbSNP:rs267606917)"
FT /evidence="ECO:0000269|PubMed:17290294"
FT /id="VAR_064200"
FT VARIANT 270
FT /note="G -> C (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833961)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:9915943"
FT /id="VAR_013035"
FT VARIANT 294
FT /note="T -> I (in NPHS1; benign variant;
FT dbSNP:rs113825926)"
FT /evidence="ECO:0000269|PubMed:22565185"
FT /id="VAR_072377"
FT VARIANT 299
FT /note="R -> C (in NPHS1; dbSNP:rs753476209)"
FT /evidence="ECO:0000269|PubMed:20172850"
FT /id="VAR_064201"
FT VARIANT 340
FT /note="P -> H (in NPHS1; dbSNP:rs386833861)"
FT /evidence="ECO:0000269|PubMed:20172850"
FT /id="VAR_064202"
FT VARIANT 347
FT /note="G -> E (in NPHS1; dbSNP:rs386833862)"
FT /evidence="ECO:0000269|PubMed:20172850"
FT /id="VAR_064203"
FT VARIANT 350
FT /note="S -> P (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833863)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:20172850,
FT ECO:0000269|PubMed:9915943"
FT /id="VAR_013036"
FT VARIANT 366
FT /note="S -> R (in NPHS1; lack of protein expression on the
FT cell surface; the mutant protein is retained in the
FT endoplasmic reticulum; dbSNP:rs386833864)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:20172850,
FT ECO:0000269|PubMed:9915943"
FT /id="VAR_013037"
FT VARIANT 367
FT /note="R -> C (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833865)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:18503012,
FT ECO:0000269|PubMed:20172850, ECO:0000269|PubMed:9915943"
FT /id="VAR_013038"
FT VARIANT 368
FT /note="P -> L (in NPHS1; dbSNP:rs386833867)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:22732337"
FT /id="VAR_064204"
FT VARIANT 368
FT /note="P -> S (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833866)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:9915943"
FT /id="VAR_013039"
FT VARIANT 376
FT /note="L -> V (in NPHS1; does not affect protein expression
FT on the cell surface; dbSNP:rs386833868)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:9915943"
FT /id="VAR_013040"
FT VARIANT 379
FT /note="R -> W (in NPHS1; dbSNP:rs386833871)"
FT /evidence="ECO:0000269|PubMed:11317351"
FT /id="VAR_064205"
FT VARIANT 392
FT /note="L -> P (in dbSNP:rs34320609)"
FT /id="VAR_049971"
FT VARIANT 407
FT /note="R -> W (in NPHS1; dbSNP:rs386833874)"
FT /evidence="ECO:0000269|PubMed:20172850"
FT /id="VAR_064206"
FT VARIANT 408
FT /note="R -> Q (does not affect protein expression on the
FT cell surface; dbSNP:rs33950747)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:20172850,
FT ECO:0000269|PubMed:22565185, ECO:0000269|PubMed:9915943"
FT /id="VAR_013041"
FT VARIANT 412
FT /note="G -> C (in NPHS1; dbSNP:rs142008044)"
FT /evidence="ECO:0000269|PubMed:18503012,
FT ECO:0000269|PubMed:22732337"
FT /id="VAR_064207"
FT VARIANT 417
FT /note="C -> F (in NPHS1; dbSNP:rs386833875)"
FT /evidence="ECO:0000269|PubMed:11317351"
FT /id="VAR_064208"
FT VARIANT 446
FT /note="I -> N (in NPHS1; unknown pathological significance;
FT dbSNP:rs386833879)"
FT /evidence="ECO:0000269|PubMed:26560236"
FT /id="VAR_075252"
FT VARIANT 447
FT /note="E -> K (in dbSNP:rs28939695)"
FT /evidence="ECO:0000269|PubMed:10652016,
FT ECO:0000269|PubMed:11317351"
FT /id="VAR_013042"
FT VARIANT 460
FT /note="R -> Q (in NPHS1; dbSNP:rs386833880)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:18614772, ECO:0000269|PubMed:20172850"
FT /id="VAR_064209"
FT VARIANT 465
FT /note="C -> Y (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833881)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:9915943"
FT /id="VAR_013043"
FT VARIANT 519
FT /note="P -> S (in NPHS1; dbSNP:rs386833884)"
FT /evidence="ECO:0000269|PubMed:18503012"
FT /id="VAR_064210"
FT VARIANT 528
FT /note="C -> F (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833885)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:9915943"
FT /id="VAR_013044"
FT VARIANT 558
FT /note="R -> C (in NPHS1; dbSNP:rs386833886)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:20172850"
FT /id="VAR_064211"
FT VARIANT 567
FT /note="C -> S (in NPHS1; dbSNP:rs1468337078)"
FT /evidence="ECO:0000269|PubMed:20798252"
FT /id="VAR_079795"
FT VARIANT 569
FT /note="S -> R (in NPHS1; dbSNP:rs386833888)"
FT /evidence="ECO:0000269|PubMed:18503012"
FT /id="VAR_064212"
FT VARIANT 572
FT /note="S -> N (in NPHS1; dbSNP:rs386833889)"
FT /evidence="ECO:0000269|PubMed:20172850"
FT /id="VAR_064213"
FT VARIANT 575
FT /note="P -> Q (in NPHS1; dbSNP:rs386833890)"
FT /evidence="ECO:0000269|PubMed:18614772"
FT /id="VAR_064214"
FT VARIANT 586
FT /note="R -> G (in NPHS1; dbSNP:rs730880174)"
FT /evidence="ECO:0000269|PubMed:20172850"
FT /id="VAR_064215"
FT VARIANT 587
FT /note="L -> R (in NPHS1; dbSNP:rs386833892)"
FT /evidence="ECO:0000269|PubMed:20172850"
FT /id="VAR_064216"
FT VARIANT 608
FT /note="V -> I (in NPHS1; dbSNP:rs367976914)"
FT /evidence="ECO:0000269|PubMed:22565185"
FT /id="VAR_072378"
FT VARIANT 610
FT /note="L -> Q (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833894)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:9915943"
FT /id="VAR_013045"
FT VARIANT 617
FT /note="H -> R (found in patients with nephrotic syndrome;
FT unknown pathological significance; dbSNP:rs764058957)"
FT /evidence="ECO:0000269|PubMed:11317351"
FT /id="VAR_064217"
FT VARIANT 623
FT /note="C -> F (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833895)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:20172850,
FT ECO:0000269|PubMed:20798252, ECO:0000269|PubMed:9915943"
FT /id="VAR_013046"
FT VARIANT 673
FT /note="N -> K (in NPHS1; dbSNP:rs191807913)"
FT /evidence="ECO:0000269|PubMed:20172850"
FT /id="VAR_064218"
FT VARIANT 681
FT /note="W -> C (in NPHS1; dbSNP:rs386833900)"
FT /evidence="ECO:0000269|PubMed:20172850"
FT /id="VAR_064219"
FT VARIANT 709
FT /note="V -> G (in NPHS1; dbSNP:rs386833902)"
FT /evidence="ECO:0000269|PubMed:18503012"
FT /id="VAR_064220"
FT VARIANT 711
FT /note="R -> H (in NPHS1; unknown pathological significance;
FT dbSNP:rs926025297)"
FT /evidence="ECO:0000269|PubMed:26560236"
FT /id="VAR_075253"
FT VARIANT 724
FT /note="S -> C (in NPHS1; does not affect protein expression
FT on the cell surface; dbSNP:rs386833905)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:9915943"
FT /id="VAR_013047"
FT VARIANT 725
FT /note="E -> D (found in patients with nephrotic syndrome;
FT unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:11317351"
FT /id="VAR_064221"
FT VARIANT 736
FT /note="V -> M (in NPHS1; unknown pathological significance;
FT dbSNP:rs1131692245)"
FT /evidence="ECO:0000269|PubMed:26560236"
FT /id="VAR_075254"
FT VARIANT 739
FT /note="A -> V (in NPHS1; dbSNP:rs386833907)"
FT /evidence="ECO:0000269|PubMed:11317351"
FT /id="VAR_064222"
FT VARIANT 742
FT /note="I -> T (in NPHS1; dbSNP:rs386833908)"
FT /evidence="ECO:0000269|PubMed:22009864"
FT /id="VAR_067252"
FT VARIANT 743
FT /note="R -> C (in NPHS1; does not affect protein expression
FT on the cell surface; dbSNP:rs386833909)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:20172850,
FT ECO:0000269|PubMed:9915943"
FT /id="VAR_013048"
FT VARIANT 802
FT /note="R -> P (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs114203578)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:9915943"
FT /id="VAR_013050"
FT VARIANT 802
FT /note="R -> W (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833911)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:9915943"
FT /id="VAR_013049"
FT VARIANT 806
FT /note="A -> D (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833912)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:11726550, ECO:0000269|PubMed:9915943"
FT /id="VAR_013051"
FT VARIANT 819
FT /note="D -> V (in NPHS1; dbSNP:rs387906357)"
FT /evidence="ECO:0000269|PubMed:10652016,
FT ECO:0000269|PubMed:11317351"
FT /id="VAR_013052"
FT VARIANT 822
FT /note="V -> M (in NPHS1; dbSNP:rs267606918)"
FT /evidence="ECO:0000269|PubMed:17290294"
FT /id="VAR_064223"
FT VARIANT 831
FT /note="R -> C (in NPHS1; lack of protein expression on the
FT cell surface; dbSNP:rs386833915)"
FT /evidence="ECO:0000269|PubMed:11726550,
FT ECO:0000269|PubMed:9915943"
FT /id="VAR_013053"
FT VARIANT 832
FT /note="L -> P (in NPHS1; the mutant protein is retained in
FT the endoplasmic reticulum; dbSNP:rs386833916)"
FT /evidence="ECO:0000269|PubMed:18614772"
FT /id="VAR_064224"
FT VARIANT 834
FT /note="V -> F (in NPHS1; dbSNP:rs386833917)"
FT /evidence="ECO:0000269|PubMed:11317351"
FT /id="VAR_064225"
FT VARIANT 851
FT /note="A -> V (in NPHS1; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:20798252"
FT /id="VAR_064226"
FT VARIANT 910
FT /note="S -> P (in NPHS1; dbSNP:rs143649022)"
FT /evidence="ECO:0000269|PubMed:20172850"
FT /id="VAR_064227"
FT VARIANT 912
FT /note="A -> T (in NPHS1; dbSNP:rs763162233)"
FT /evidence="ECO:0000269|PubMed:22565185"
FT /id="VAR_072162"
FT VARIANT 976
FT /note="R -> S (in NPHS1; dbSNP:rs138656762)"
FT /evidence="ECO:0000269|PubMed:18614772,
FT ECO:0000269|PubMed:20172850"
FT /id="VAR_064228"
FT VARIANT 991
FT /note="V -> L (in dbSNP:rs34736717)"
FT /id="VAR_049972"
FT VARIANT 1016
FT /note="S -> N (in NPHS1; dbSNP:rs367986918)"
FT /evidence="ECO:0000269|PubMed:22565185"
FT /id="VAR_072379"
FT VARIANT 1020
FT /note="G -> V (in NPHS1; dbSNP:rs749003854)"
FT /evidence="ECO:0000269|PubMed:22565185"
FT /id="VAR_072163"
FT VARIANT 1077
FT /note="N -> S (in dbSNP:rs4806213)"
FT /evidence="ECO:0000269|PubMed:11317351,
FT ECO:0000269|PubMed:26560236, ECO:0000269|PubMed:9915943"
FT /id="VAR_013054"
FT VARIANT 1096
FT /note="G -> C (in NPHS1; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:20798252"
FT /id="VAR_079796"
FT VARIANT 1140
FT /note="R -> C (in NPHS1; does not affect protein expression
FT on the cell surface; dbSNP:rs143092783)"
FT /evidence="ECO:0000269|PubMed:11726550,
FT ECO:0000269|PubMed:20172850, ECO:0000269|PubMed:9915943"
FT /id="VAR_013055"
SQ SEQUENCE 1241 AA; 134742 MW; 7F5AFAF078BCF532 CRC64;
MALGTTLRAS LLLLGLLTEG LAQLAIPASV PRGFWALPEN LTVVEGASVE LRCGVSTPGS
AVQWAKDGLL LGPDPRIPGF PRYRLEGDPA RGEFHLHIEA CDLSDDAEYE CQVGRSEMGP
ELVSPRVILS ILVPPKLLLL TPEAGTMVTW VAGQEYVVNC VSGDAKPAPD ITILLSGQTI
SDISANVNEG SQQKLFTVEA TARVTPRSSD NRQLLVCEAS SPALEAPIKA SFTVNVLFPP
GPPVIEWPGL DEGHVRAGQS LELPCVARGG NPLATLQWLK NGQPVSTAWG TEHTQAVARS
VLVMTVRPED HGAQLSCEAH NSVSAGTQEH GITLQVTFPP SAIIILGSAS QTENKNVTLS
CVSKSSRPRV LLRWWLGWRQ LLPMEETVMD GLHGGHISMS NLTFLARRED NGLTLTCEAF
SEAFTKETFK KSLILNVKYP AQKLWIEGPP EGQKLRAGTR VRLVCLAIGG NPEPSLMWYK
DSRTVTESRL PQESRRVHLG SVEKSGSTFS RELVLVTGPS DNQAKFTCKA GQLSASTQLA
VQFPPTNVTI LANASALRPG DALNLTCVSV SSNPPVNLSW DKEGERLEGV AAPPRRAPFK
GSAAARSVLL QVSSRDHGQR VTCRAHSAEL RETVSSFYRL NVLYRPEFLG EQVLVVTAVE
QGEALLPVSV SANPAPEAFN WTFRGYRLSP AGGPRHRILS SGALHLWNVT RADDGLYQLH
CQNSEGTAEA RLRLDVHYAP TIRALQDPTE VNVGGSVDIV CTVDANPILP GMFNWERLGE
DEEDQSLDDM EKISRGPTGR LRIHHAKLAQ AGAYQCIVDN GVAPPARRLL RLVVRFAPQV
EHPTPLTKVA AAGDSTSSAT LHCRARGVPN IVFTWTKNGV PLDLQDPRYT EHTYHQGGVH
SSLLTIANVS AAQDYALFTC TATNALGSDQ TNIQLVSISR PDPPSGLKVV SLTPHSVGLE
WKPGFDGGLP QRFCIRYEAL GTPGFHYVDV VPPQATTFTL TGLQPSTRYR VWLLASNALG
DSGLADKGTQ LPITTPGLHQ PSGEPEDQLP TEPPSGPSGL PLLPVLFALG GLLLLSNASC
VGGVLWQRRL RRLAEGISEK TEAGSEEDRV RNEYEESQWT GERDTQSSTV STTEAEPYYR
SLRDFSPQLP PTQEEVSYSR GFTGEDEDMA FPGHLYDEVE RTYPPSGAWG PLYDEVQMGP
WDLHWPEDTY QDPRGIYDQV AGDLDTLEPD SLPFELRGHL V
