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O60500 (NPHN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 136. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nephrin
Alternative name(s):
Renal glomerulus-specific cell adhesion receptor
Gene names
Name:NPHS1
Synonyms:NPHN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1241 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subunit structure

Interacts with CD2AP (via C-terminal domain). Interacts with MAGI1 (via PDZ 2 and 3 domains) forming a tripartite complex with IGSF5/JAM4. Interacts with DDN; the interaction is direct. Self-associates (via the Ig-like domains). Also interacts (via the Ig-like domains) with KIRREL/NEPH1 and KIRREL2; the interaction with KIRREL is dependent on KIRREL glycosylation. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1 By similarity. Interacts with NPHS2. Ref.7

Subcellular location

Cell membrane; Single-pass type I membrane protein Potential. Note: Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane. Ref.5 Ref.6

Tissue specificity

Specifically expressed in podocytes of kidney glomeruli.

Developmental stage

In 23-week-old embryo found in epithelial podocytes of the periphery of mature and developing glomeruli.

Post-translational modification

Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1 By similarity.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17

Sequence similarities

Belongs to the immunoglobulin superfamily.

Contains 1 fibronectin type-III domain.

Contains 8 Ig-like C2-type (immunoglobulin-like) domains.

Ontologies

Keywords
   Biological processCell adhesion
Myogenesis
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainImmunoglobulin domain
Repeat
Signal
Transmembrane
Transmembrane helix
   Molecular functionDevelopmental protein
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processJNK cascade

Inferred from electronic annotation. Source: Ensembl

cell adhesion

Traceable author statement Ref.1. Source: ProtInc

excretion

Traceable author statement Ref.1. Source: ProtInc

glomerular basement membrane development

Inferred from expression pattern PubMed 17464107. Source: UniProtKB

glomerular visceral epithelial cell development

Inferred from expression pattern PubMed 17464107. Source: UniProtKB

myoblast fusion

Inferred from electronic annotation. Source: Ensembl

positive regulation of actin filament polymerization

Inferred from electronic annotation. Source: Ensembl

regulation of excretion

Inferred from electronic annotation. Source: Ensembl

skeletal muscle tissue development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcell projection

Inferred from electronic annotation. Source: Ensembl

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867PubMed 23376485. Source: UniProt

integral component of plasma membrane

Traceable author statement Ref.1. Source: ProtInc

membrane raft

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Inferred from direct assay PubMed 17464107. Source: UniProtKB

protein complex

Inferred from electronic annotation. Source: Ensembl

slit diaphragm

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionmyosin binding

Inferred from physical interaction PubMed 21402783. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 16525419PubMed 22662192. Source: IntAct

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

IQGAP1P469405EBI-996920,EBI-297509
NCK1P163333EBI-996920,EBI-389883

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60500-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: O60500-2)

Also known as: Alpha;

The sequence of this isoform differs from the canonical sequence as follows:
     1056-1095: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 12411219Nephrin
PRO_0000015052

Regions

Topological domain23 – 10551033Extracellular Potential
Transmembrane1056 – 107621Helical; Potential
Topological domain1077 – 1241165Cytoplasmic Potential
Domain27 – 130104Ig-like C2-type 1
Domain143 – 23492Ig-like C2-type 2
Domain242 – 33392Ig-like C2-type 3
Domain340 – 43495Ig-like C2-type 4
Domain440 – 540101Ig-like C2-type 5
Domain544 – 63592Ig-like C2-type 6
Domain740 – 83293Ig-like C2-type 7
Domain838 – 939102Ig-like C2-type 8
Domain943 – 103896Fibronectin type-III
Region1160 – 124182Binds to NPHS2

Amino acid modifications

Modified residue4321Phosphoserine Ref.8
Modified residue11931Phosphotyrosine; by FYN By similarity
Glycosylation401N-linked (GlcNAc...) Potential
Glycosylation3561N-linked (GlcNAc...) Potential
Glycosylation4011N-linked (GlcNAc...) Potential
Glycosylation5471N-linked (GlcNAc...) Potential
Glycosylation5531N-linked (GlcNAc...) Potential
Glycosylation5641N-linked (GlcNAc...) Potential
Glycosylation5771N-linked (GlcNAc...) Potential
Glycosylation6801N-linked (GlcNAc...) Potential
Glycosylation7081N-linked (GlcNAc...) Potential
Glycosylation9081N-linked (GlcNAc...) Potential
Disulfide bond53 ↔ 111 Potential
Disulfide bond160 ↔ 217 Potential
Disulfide bond265 ↔ 317 Potential
Disulfide bond361 ↔ 417 Potential
Disulfide bond465 ↔ 528 Potential
Disulfide bond567 ↔ 623 Potential
Disulfide bond761 ↔ 816 Potential
Disulfide bond863 ↔ 920 Potential

Natural variations

Alternative sequence1056 – 109540Missing in isoform 2.
VSP_002598
Natural variant641W → S in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12
VAR_013029
Natural variant961L → V in NPHS1. Ref.14
VAR_064194
Natural variant1071A → T in NPHS1. Ref.14
VAR_064195
Natural variant1071A → V in NPHS1. Ref.16
VAR_064196
Natural variant1171E → K. Ref.2 Ref.9 Ref.12 Ref.17
Corresponds to variant rs3814995 [ dbSNP | Ensembl ].
VAR_013030
Natural variant1671P → L in NPHS1. Ref.16
VAR_064197
Natural variant1711I → N in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12
VAR_013031
Natural variant1721Missing in NPHS1. Ref.9 Ref.12 Ref.16
VAR_013032
Natural variant1731I → N in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12
VAR_013033
Natural variant205 – 2073TPR → I in NPHS1.
VAR_013034
Natural variant2331T → A.
Corresponds to variant rs35238405 [ dbSNP | Ensembl ].
VAR_049970
Natural variant2561R → W in NPHS1. Ref.15
VAR_064198
Natural variant2641P → R Found in patients with nephrotic syndrome; unknown pathological significance. Ref.12
Corresponds to variant rs34982899 [ dbSNP | Ensembl ].
VAR_064199
Natural variant2651C → R in NPHS1. Ref.13
VAR_064200
Natural variant2701G → C in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12
VAR_013035
Natural variant2991R → C in NPHS1. Ref.16
VAR_064201
Natural variant3401P → H in NPHS1. Ref.16
VAR_064202
Natural variant3471G → E in NPHS1. Ref.16
VAR_064203
Natural variant3501S → P in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12 Ref.16
VAR_013036
Natural variant3661S → R in NPHS1; lack of protein expression on the cell surface; the mutant protein is retained in the endoplasmic reticulum. Ref.9 Ref.11 Ref.12 Ref.16
VAR_013037
Natural variant3671R → C in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12 Ref.15 Ref.16
VAR_013038
Natural variant3681P → L in NPHS1. Ref.12
VAR_064204
Natural variant3681P → S in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12
VAR_013039
Natural variant3761L → V in NPHS1; does not affect protein expression on the cell surface. Ref.9 Ref.11 Ref.12
VAR_013040
Natural variant3791R → W in NPHS1. Ref.12
VAR_064205
Natural variant3921L → P.
Corresponds to variant rs34320609 [ dbSNP | Ensembl ].
VAR_049971
Natural variant4071R → W in NPHS1. Ref.16
VAR_064206
Natural variant4081R → Q in NPHS1; uncertain pathological significance; does not affect protein expression on the cell surface. Ref.9 Ref.11 Ref.12 Ref.16
Corresponds to variant rs33950747 [ dbSNP | Ensembl ].
VAR_013041
Natural variant4121G → C in NPHS1. Ref.15
VAR_064207
Natural variant4171C → F in NPHS1. Ref.12
VAR_064208
Natural variant4471E → K. Ref.10 Ref.12
Corresponds to variant rs28939695 [ dbSNP | Ensembl ].
VAR_013042
Natural variant4601R → Q in NPHS1. Ref.12 Ref.14 Ref.16
VAR_064209
Natural variant4651C → Y in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12
VAR_013043
Natural variant5191P → S in NPHS1. Ref.15
VAR_064210
Natural variant5281C → F in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12
VAR_013044
Natural variant5581R → C in NPHS1. Ref.12 Ref.16
VAR_064211
Natural variant5691S → R in NPHS1. Ref.15
VAR_064212
Natural variant5721S → N in NPHS1. Ref.16
VAR_064213
Natural variant5751P → Q in NPHS1. Ref.14
VAR_064214
Natural variant5861R → G in NPHS1. Ref.16
VAR_064215
Natural variant5871L → R in NPHS1. Ref.16
VAR_064216
Natural variant6101L → Q in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12
VAR_013045
Natural variant6171H → R Found in patients with nephrotic syndrome; unknown pathological significance. Ref.12
VAR_064217
Natural variant6231C → F in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12 Ref.16
VAR_013046
Natural variant6731N → K in NPHS1. Ref.16
Corresponds to variant rs191807913 [ dbSNP | Ensembl ].
VAR_064218
Natural variant6811W → C in NPHS1. Ref.16
VAR_064219
Natural variant7091V → G in NPHS1. Ref.15
VAR_064220
Natural variant7241S → C in NPHS1; does not affect protein expression on the cell surface. Ref.9 Ref.11 Ref.12
VAR_013047
Natural variant7251E → D Found in patients with nephrotic syndrome; unknown pathological significance. Ref.12
VAR_064221
Natural variant7391A → V in NPHS1. Ref.12
VAR_064222
Natural variant7421I → T in NPHS1. Ref.17
VAR_067252
Natural variant7431R → C in NPHS1; does not affect protein expression on the cell surface. Ref.9 Ref.11 Ref.12 Ref.16
VAR_013048
Natural variant8021R → P in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12
VAR_013050
Natural variant8021R → W in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12
VAR_013049
Natural variant8061A → D in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11 Ref.12
VAR_013051
Natural variant8191D → V in NPHS1. Ref.10 Ref.12
VAR_013052
Natural variant8221V → M in NPHS1. Ref.13
VAR_064223
Natural variant8311R → C in NPHS1; lack of protein expression on the cell surface. Ref.9 Ref.11
VAR_013053
Natural variant8321L → P in NPHS1; the mutant protein is retained in the endoplasmic reticulum. Ref.14
VAR_064224
Natural variant8341V → F in NPHS1. Ref.12
VAR_064225
Natural variant8511A → V Found in patients with nephrotic syndrome; unknown pathological significance. Ref.12
VAR_064226
Natural variant9101S → P in NPHS1. Ref.16
VAR_064227
Natural variant9761R → S in NPHS1. Ref.14 Ref.16
VAR_064228
Natural variant9911V → L.
Corresponds to variant rs34736717 [ dbSNP | Ensembl ].
VAR_049972
Natural variant10771N → S. Ref.9 Ref.12
Corresponds to variant rs4806213 [ dbSNP | Ensembl ].
VAR_013054
Natural variant11401R → C in NPHS1; does not affect protein expression on the cell surface. Ref.9 Ref.11 Ref.16
VAR_013055

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 1, 1998. Version 1.
Checksum: 7F5AFAF078BCF532

FASTA1,241134,742
        10         20         30         40         50         60 
MALGTTLRAS LLLLGLLTEG LAQLAIPASV PRGFWALPEN LTVVEGASVE LRCGVSTPGS 

        70         80         90        100        110        120 
AVQWAKDGLL LGPDPRIPGF PRYRLEGDPA RGEFHLHIEA CDLSDDAEYE CQVGRSEMGP 

       130        140        150        160        170        180 
ELVSPRVILS ILVPPKLLLL TPEAGTMVTW VAGQEYVVNC VSGDAKPAPD ITILLSGQTI 

       190        200        210        220        230        240 
SDISANVNEG SQQKLFTVEA TARVTPRSSD NRQLLVCEAS SPALEAPIKA SFTVNVLFPP 

       250        260        270        280        290        300 
GPPVIEWPGL DEGHVRAGQS LELPCVARGG NPLATLQWLK NGQPVSTAWG TEHTQAVARS 

       310        320        330        340        350        360 
VLVMTVRPED HGAQLSCEAH NSVSAGTQEH GITLQVTFPP SAIIILGSAS QTENKNVTLS 

       370        380        390        400        410        420 
CVSKSSRPRV LLRWWLGWRQ LLPMEETVMD GLHGGHISMS NLTFLARRED NGLTLTCEAF 

       430        440        450        460        470        480 
SEAFTKETFK KSLILNVKYP AQKLWIEGPP EGQKLRAGTR VRLVCLAIGG NPEPSLMWYK 

       490        500        510        520        530        540 
DSRTVTESRL PQESRRVHLG SVEKSGSTFS RELVLVTGPS DNQAKFTCKA GQLSASTQLA 

       550        560        570        580        590        600 
VQFPPTNVTI LANASALRPG DALNLTCVSV SSNPPVNLSW DKEGERLEGV AAPPRRAPFK 

       610        620        630        640        650        660 
GSAAARSVLL QVSSRDHGQR VTCRAHSAEL RETVSSFYRL NVLYRPEFLG EQVLVVTAVE 

       670        680        690        700        710        720 
QGEALLPVSV SANPAPEAFN WTFRGYRLSP AGGPRHRILS SGALHLWNVT RADDGLYQLH 

       730        740        750        760        770        780 
CQNSEGTAEA RLRLDVHYAP TIRALQDPTE VNVGGSVDIV CTVDANPILP GMFNWERLGE 

       790        800        810        820        830        840 
DEEDQSLDDM EKISRGPTGR LRIHHAKLAQ AGAYQCIVDN GVAPPARRLL RLVVRFAPQV 

       850        860        870        880        890        900 
EHPTPLTKVA AAGDSTSSAT LHCRARGVPN IVFTWTKNGV PLDLQDPRYT EHTYHQGGVH 

       910        920        930        940        950        960 
SSLLTIANVS AAQDYALFTC TATNALGSDQ TNIQLVSISR PDPPSGLKVV SLTPHSVGLE 

       970        980        990       1000       1010       1020 
WKPGFDGGLP QRFCIRYEAL GTPGFHYVDV VPPQATTFTL TGLQPSTRYR VWLLASNALG 

      1030       1040       1050       1060       1070       1080 
DSGLADKGTQ LPITTPGLHQ PSGEPEDQLP TEPPSGPSGL PLLPVLFALG GLLLLSNASC 

      1090       1100       1110       1120       1130       1140 
VGGVLWQRRL RRLAEGISEK TEAGSEEDRV RNEYEESQWT GERDTQSSTV STTEAEPYYR 

      1150       1160       1170       1180       1190       1200 
SLRDFSPQLP PTQEEVSYSR GFTGEDEDMA FPGHLYDEVE RTYPPSGAWG PLYDEVQMGP 

      1210       1220       1230       1240 
WDLHWPEDTY QDPRGIYDQV AGDLDTLEPD SLPFELRGHL V 

« Hide

Isoform 2 (Alpha) [UniParc].

Checksum: 189283B140D831DF
Show »

FASTA1,201130,546

References

« Hide 'large scale' references
[1]"Positionally cloned gene for a novel glomerular protein -- nephrin --is mutated in congenital nephrotic syndrome."
Kestilae M., Lenkkeri U., Maennikkoe M., Lamerdin J.E., McCready P., Putaala H., Ruotsalainen V., Morita T., Nissinen M., Herva R., Kashtan C.E., Peltonen L., Holmberg C., Olsen A., Tryggvason K.
Mol. Cell 1:575-582(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN NPHS1.
[2]"Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type."
Tikhomirov E., Voznesenskaya T., Tsygin A.
Hum. Genet. 125:334-334(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT LYS-117.
[3]"Human nephrin (NPHS1) cDNA sequence."
Grunkemeyer J.A., Kumar N., Kalluri R.
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney."
Holthoefer H., Ahola H., Solin M.-L., Wang S.-X., Palmen T., Luimula P., Miettinen A., Kerjaschki D.
Am. J. Pathol. 155:1681-1687(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1032-1134 (ISOFORM 2), SUBCELLULAR LOCATION.
[6]"Nephrin is specifically located at the slit diaphragm of glomerular podocytes."
Ruotsalainen V., Ljungberg P., Wartiovaara J., Lenkkeri U., Kestilae M., Jalanko H., Holmberg C., Tryggvason K.
Proc. Natl. Acad. Sci. U.S.A. 96:7962-7967(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[7]"Interaction with podocin facilitates nephrin signaling."
Huber T.B., Kottgen M., Schilling B., Walz G., Benzing T.
J. Biol. Chem. 276:41543-41546(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NPHS2.
[8]"Phosphoproteome of resting human platelets."
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.
J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-432, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Platelet.
[9]"Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations."
Lenkkeri U., Maennikkoe M., McCready P., Lamerdin J., Gribouval O., Niaudet P.M., Antignac C.K., Kashtan C.E., Homberg C., Olsen A., Kestilae M., Tryggvason K.
Am. J. Hum. Genet. 64:51-61(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LYS-117 AND SER-1077, VARIANTS NPHS1 SER-64; ASN-171; THR-172 DEL; ASN-173; 205-THR--ARG-207 DELINS ILE; CYS-270; PRO-350; ARG-366; CYS-367; SER-368; VAL-376; GLN-408; TYR-465; PHE-528; GLN-610; PHE-623; CYS-724; CYS-743; TRP-802; PRO-802; ASP-806; CYS-831 AND CYS-1140.
[10]"Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type."
Aya K., Tanaka H., Seino Y.
Kidney Int. 57:401-404(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NPHS1 VAL-819, VARIANT LYS-447.
[11]"Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome."
Liu L., Done S.C., Khoshnoodi J., Bertorello A., Wartiovaara J., Berggren P.O., Tryggvason K.
Hum. Mol. Genet. 10:2637-2644(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS NPHS1 SER-64; ASN-171; ASN-173; CYS-270; PRO-350; ARG-366; CYS-367; SER-368; VAL-376; GLN-408; TYR-465; PHE-528; GLN-610; PHE-623; CYS-724; CYS-743; TRP-802; PRO-802; ASP-806; CYS-831 AND CYS-1140.
[12]"Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome."
Beltcheva O., Martin P., Lenkkeri U., Tryggvason K.
Hum. Mutat. 17:368-373(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPHS1 SER-64; ASN-171; THR-172 DEL; ASN-173; CYS-270; PRO-350; ARG-366; CYS-367; LEU-368; SER-368; VAL-376; TRP-379; GLN-408; PHE-417; GLN-460; TYR-465; PHE-528; CYS-558; GLN-610; PHE-623; CYS-724; VAL-739; CYS-743; TRP-802; PRO-802; ASP-806; VAL-819 AND PHE-834, VARIANTS LYS-117; ARG-264; LYS-447; ARG-617; ASP-725; VAL-851 AND SER-1077.
[13]"A familial childhood-onset relapsing nephrotic syndrome."
Kitamura A., Tsukaguchi H., Hiramoto R., Shono A., Doi T., Kagami S., Iijima K.
Kidney Int. 71:946-951(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPHS1 ARG-265 AND MET-822.
[14]"Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome."
Philippe A., Nevo F., Esquivel E.L., Reklaityte D., Gribouval O., Tete M.J., Loirat C., Dantal J., Fischbach M., Pouteil-Noble C., Decramer S., Hoehne M., Benzing T., Charbit M., Niaudet P., Antignac C.
J. Am. Soc. Nephrol. 19:1871-1878(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPHS1 VAL-96; THR-107; GLN-460; GLN-575; PRO-832 AND SER-976, CHARACTERIZATION OF VARIANT NPHS1 PRO-832.
[15]"Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome."
Heeringa S.F., Vlangos C.N., Chernin G., Hinkes B., Gbadegesin R., Liu J., Hoskins B.E., Ozaltin F., Hildebrandt F.
Nephrol. Dial. Transplant. 23:3527-3533(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPHS1 TRP-256; CYS-367; CYS-412; SER-519; ARG-569 AND GLY-709.
[16]"Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)."
Schoeb D.S., Chernin G., Heeringa S.F., Matejas V., Held S., Vega-Warner V., Bockenhauer D., Vlangos C.N., Moorani K.N., Neuhaus T.J., Kari J.A., MacDonald J., Saisawat P., Ashraf S., Ovunc B., Zenker M., Hildebrandt F.
Nephrol. Dial. Transplant. 25:2970-2976(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPHS1 VAL-107; LEU-167; THR-172 DEL; 205-THR--ARG-207 DELINS ILE; CYS-299; HIS-340; GLU-347; PRO-350; ARG-366; CYS-367; TRP-407; GLN-408; GLN-460; CYS-558; ASN-572; GLY-586; ARG-587; PHE-623; LYS-673; CYS-681; CYS-743; PRO-910; SER-976 AND CYS-1140.
[17]"Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome."
Wu L.Q., Hu J.J., Xue J.J., Liang D.S.
Genet. Mol. Res. 10:2517-2522(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NPHS1 THR-742, VARIANT LYS-117.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF035835 mRNA. Translation: AAC39687.1.
EU642886 mRNA. Translation: ACH99862.1.
AF190637 mRNA. Translation: AAG17141.1.
AC002133 Genomic DNA. No translation available.
AF126957 mRNA. Translation: AAF36451.1.
CCDSCCDS32996.1. [O60500-1]
PIRT37190.
RefSeqNP_004637.1. NM_004646.3. [O60500-1]
UniGeneHs.122186.

3D structure databases

ProteinModelPortalO60500.
SMRO60500. Positions 32-1022.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110928. 17 interactions.
IntActO60500. 7 interactions.
STRING9606.ENSP00000368190.

PTM databases

PhosphoSiteO60500.

Proteomic databases

PaxDbO60500.
PRIDEO60500.

Protocols and materials databases

DNASU4868.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000353632; ENSP00000343634; ENSG00000161270. [O60500-2]
ENST00000378910; ENSP00000368190; ENSG00000161270. [O60500-1]
GeneID4868.
KEGGhsa:4868.
UCSCuc002oby.3. human. [O60500-1]

Organism-specific databases

CTD4868.
GeneCardsGC19M036316.
HGNCHGNC:7908. NPHS1.
HPACAB035555.
MIM256300. phenotype.
602716. gene.
neXtProtNX_O60500.
Orphanet839. Congenital nephrotic syndrome, Finnish type.
93214. Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation.
93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
93216. Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes.
PharmGKBPA31709.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG251936.
HOGENOMHOG000113844.
HOVERGENHBG031752.
InParanoidO60500.
OMANVNEGSQ.
OrthoDBEOG7RBZ7J.
PhylomeDBO60500.
TreeFamTF327139.

Enzyme and pathway databases

ReactomeREACT_111155. Cell-Cell communication.
SignaLinkO60500.

Gene expression databases

BgeeO60500.
CleanExHS_NPHS1.
GenevestigatorO60500.

Family and domain databases

Gene3D2.60.40.10. 10 hits.
InterProIPR013162. CD80_C2-set.
IPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013106. Ig_V-set.
[Graphical view]
PfamPF08205. C2-set_2. 5 hits.
PF00041. fn3. 1 hit.
PF07679. I-set. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
SMARTSM00060. FN3. 1 hit.
SM00409. IG. 5 hits.
SM00408. IGc2. 1 hit.
[Graphical view]
SUPFAMSSF49265. SSF49265. 1 hit.
PROSITEPS50853. FN3. 1 hit.
PS50835. IG_LIKE. 7 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNephrin.
GenomeRNAi4868.
NextBio18748.
PROO60500.
SOURCESearch...

Entry information

Entry nameNPHN_HUMAN
AccessionPrimary (citable) accession number: O60500
Secondary accession number(s): A6NDH2, C3RX61
Entry history
Integrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: August 1, 1998
Last modified: July 9, 2014
This is version 136 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM