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   27-MAR-2024, entry version 201.
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   INTERACTION WITH PIK3R1, PHOSPHORYLATION, DEPHOSPHORYLATION, AND
RP   MUTAGENESIS OF TYR-1138.
RX   PubMed=28955049; DOI=10.1038/s41598-017-12382-8;
RA   Lee J., Koh A., Jeong H., Kim E., Ha T.S., Saleem M.A., Ryu S.H.;
RT   "C1-Ten is a PTPase of nephrin, regulating podocyte hypertrophy through
RT   mTORC1 activation.";
RL   Sci. Rep. 7:12346-12346(2017).
RN   [10]
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   [11]
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   [12]
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   [13]
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   [14]
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   [15]
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   [16]
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   [17]
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   [18]
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   [19]
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   [20]
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   [21]
RP   VARIANTS NPHS1 ILE-188; LYS-189; PRO-237; TRP-256; ILE-294; ILE-608;
RP   THR-912; ASN-1016 AND VAL-1020, AND VARIANTS ARG-264 AND 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   [22]
RP   VARIANTS NPHS1 LEU-368; GLN-460 AND TRP-802, AND VARIANT ARG-264.
RX   PubMed=23595123; DOI=10.1038/jhg.2013.27;
RA   Al-Hamed M.H., Al-Sabban E., Al-Mojalli H., Al-Harbi N., Faqeih E.,
RA   Al Shaya H., Alhasan K., Al-Hissi S., Rajab M., Edwards N., Al-Abbad A.,
RA   Al-Hassoun I., Sayer J.A., Meyer B.F.;
RT   "A molecular genetic analysis of childhood nephrotic syndrome in a cohort
RT   of Saudi Arabian families.";
RL   J. Hum. Genet. 58:480-489(2013).
RN   [23]
RP   VARIANT 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   [24]
RP   VARIANTS NPHS1 THR-172 DEL; ASN-446; HIS-711 AND MET-736, AND VARIANTS
RP   ARG-264 AND 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). Interacts with
CC       phosphatidylinositol 3-kinase regulatory subunit PIK3R1; the
CC       interaction is reduced by high glucose levels (PubMed:28955049).
CC       {ECO:0000250|UniProtKB:Q9QZS7, ECO:0000250|UniProtKB:Q9R044,
CC       ECO:0000269|PubMed:11562357, ECO:0000269|PubMed:28955049}.
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 (By similarity). Tyrosine
CC       phosphorylation is reduced by high glucose levels (PubMed:28955049).
CC       Dephosphorylated by tensin TNS2 which leads to reduced binding of NPHN1
CC       to PIK3R1 (PubMed:28955049). {ECO:0000250|UniProtKB:Q9R044,
CC       ECO:0000269|PubMed:28955049}.
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:23595123,
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   GlyCosmos; O60500; 10 sites, No reported glycans.
DR   GlyGen; O60500; 10 sites.
DR   iPTMnet; O60500; -.
DR   PhosphoSitePlus; O60500; -.
DR   BioMuta; NPHS1; -.
DR   EPD; O60500; -.
DR   MassIVE; O60500; -.
DR   PaxDb; 9606-ENSP00000368190; -.
DR   PeptideAtlas; O60500; -.
DR   ProteomicsDB; 49436; -. [O60500-1]
DR   ProteomicsDB; 49437; -. [O60500-2]
DR   Antibodypedia; 29541; 884 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   AGR; HGNC:7908; -.
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; 2875972at2759; -.
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 1147 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 118 other cell types or tissues.
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: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:0010467; P:gene expression; IEA:Ensembl.
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   CDD; cd05773; IgC1_hNephrin_like; 1.
DR   Gene3D; 2.60.40.10; Immunoglobulins; 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   InterPro; IPR013106; Ig_V-set.
DR   PANTHER; PTHR11640:SF164; MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR PROTEIN 1; 1.
DR   PANTHER; PTHR11640; NEPHRIN; 1.
DR   Pfam; PF08205; C2-set_2; 5.
DR   Pfam; PF00041; fn3; 1.
DR   Pfam; PF07679; I-set; 2.
DR   Pfam; PF13927; Ig_3; 1.
DR   Pfam; PF07686; V-set; 1.
DR   SMART; SM00060; FN3; 1.
DR   SMART; SM00409; IG; 8.
DR   SMART; SM00408; IGc2; 7.
DR   SUPFAM; SSF49265; Fibronectin type III; 1.
DR   SUPFAM; SSF48726; Immunoglobulin; 9.
DR   PROSITE; PS50853; FN3; 1.
DR   PROSITE; PS50835; IG_LIKE; 7.
DR   Genevisible; O60500; HS.
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 dbSNP:rs34982899)"
FT                   /evidence="ECO:0000269|PubMed:11317351,
FT                   ECO:0000269|PubMed:22565185, ECO:0000269|PubMed:23595123,
FT                   ECO:0000269|PubMed:25804400, 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; 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, ECO:0000269|PubMed:23595123"
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; uncertain 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                   ECO:0000269|PubMed:23595123"
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                   uncertain 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; uncertain 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                   uncertain significance)"
FT                   /evidence="ECO:0000269|PubMed:11317351"
FT                   /id="VAR_064221"
FT   VARIANT         736
FT                   /note="V -> M (in NPHS1; uncertain 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:23595123,
FT                   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; uncertain 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; uncertain 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"
FT   MUTAGEN         1138
FT                   /note="Y->F: Increased mTORC1 complex activation."
FT                   /evidence="ECO:0000269|PubMed:28955049"
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
//