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Protein

Nephrin

Gene

NPHS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity

GO - Molecular functioni

  • myosin binding Source: UniProtKB

GO - Biological processi

  • cell adhesion Source: ProtInc
  • excretion Source: ProtInc
  • glomerular basement membrane development Source: UniProtKB
  • glomerular visceral epithelial cell development Source: UniProtKB
  • JNK cascade Source: Ensembl
  • myoblast fusion Source: Ensembl
  • positive regulation of actin filament polymerization Source: Ensembl
  • protein localization to synapse Source: UniProtKB
  • regulation of excretion Source: Ensembl
  • skeletal muscle tissue development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell adhesion, Myogenesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000161270-MONOMER.
ReactomeiR-HSA-373753. Nephrin interactions.
SignaLinkiO60500.
SIGNORiO60500.

Names & Taxonomyi

Protein namesi
Recommended name:
Nephrin
Alternative name(s):
Renal glomerulus-specific cell adhesion receptor
Gene namesi
Name:NPHS1
Synonyms:NPHN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:7908. NPHS1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 1055ExtracellularSequence analysisAdd BLAST1033
Transmembranei1056 – 1076HelicalSequence analysisAdd BLAST21
Topological domaini1077 – 1241CytoplasmicSequence analysisAdd BLAST165

GO - Cellular componenti

  • cell projection Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • intracellular Source: GOC
  • plasma membrane Source: UniProtKB
  • slit diaphragm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Nephrotic syndrome 1 (NPHS1)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:256300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01302964W → S in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833897dbSNPEnsembl.1
Natural variantiVAR_06419496L → V in NPHS1. 1 PublicationCorresponds to variant rs386833929dbSNPEnsembl.1
Natural variantiVAR_064195107A → T in NPHS1. 1 PublicationCorresponds to variant rs386833933dbSNPEnsembl.1
Natural variantiVAR_064196107A → V in NPHS1. 1 PublicationCorresponds to variant rs386833934dbSNPEnsembl.1
Natural variantiVAR_064197167P → L in NPHS1. 1 PublicationCorresponds to variant rs386833945dbSNPEnsembl.1
Natural variantiVAR_013031171I → N in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833946dbSNPEnsembl.1
Natural variantiVAR_013032172Missing in NPHS1. 4 Publications1
Natural variantiVAR_013033173I → N in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833949dbSNPEnsembl.1
Natural variantiVAR_072375188N → I in NPHS1. 1 PublicationCorresponds to variant rs145125791dbSNPEnsembl.1
Natural variantiVAR_072376189E → K in NPHS1. 1 PublicationCorresponds to variant rs139598219dbSNPEnsembl.1
Natural variantiVAR_013034205 – 207TPR → I in NPHS1. 2 Publications3
Natural variantiVAR_072161237L → P in NPHS1. 1 PublicationCorresponds to variant rs373835033dbSNPEnsembl.1
Natural variantiVAR_064198256R → W in NPHS1. 2 PublicationsCorresponds to variant rs386833960dbSNPEnsembl.1
Natural variantiVAR_064199264P → R in NPHS1; unknown pathological significance. 4 PublicationsCorresponds to variant rs34982899dbSNPEnsembl.1
Natural variantiVAR_064200265C → R in NPHS1. 1 PublicationCorresponds to variant rs267606917dbSNPEnsembl.1
Natural variantiVAR_013035270G → C in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833961dbSNPEnsembl.1
Natural variantiVAR_072377294T → I in NPHS1. 1 PublicationCorresponds to variant rs113825926dbSNPEnsembl.1
Natural variantiVAR_064201299R → C in NPHS1. 1 PublicationCorresponds to variant rs753476209dbSNPEnsembl.1
Natural variantiVAR_064202340P → H in NPHS1. 1 PublicationCorresponds to variant rs386833861dbSNPEnsembl.1
Natural variantiVAR_064203347G → E in NPHS1. 1 PublicationCorresponds to variant rs386833862dbSNPEnsembl.1
Natural variantiVAR_013036350S → P in NPHS1; lack of protein expression on the cell surface. 4 PublicationsCorresponds to variant rs386833863dbSNPEnsembl.1
Natural variantiVAR_013037366S → R in NPHS1; lack of protein expression on the cell surface; the mutant protein is retained in the endoplasmic reticulum. 4 PublicationsCorresponds to variant rs386833864dbSNPEnsembl.1
Natural variantiVAR_013038367R → C in NPHS1; lack of protein expression on the cell surface. 5 PublicationsCorresponds to variant rs386833865dbSNPEnsembl.1
Natural variantiVAR_064204368P → L in NPHS1. 1 PublicationCorresponds to variant rs386833867dbSNPEnsembl.1
Natural variantiVAR_013039368P → S in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833866dbSNPEnsembl.1
Natural variantiVAR_013040376L → V in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833868dbSNPEnsembl.1
Natural variantiVAR_064205379R → W in NPHS1. 1 PublicationCorresponds to variant rs386833871dbSNPEnsembl.1
Natural variantiVAR_064206407R → W in NPHS1. 1 PublicationCorresponds to variant rs386833874dbSNPEnsembl.1
Natural variantiVAR_013041408R → Q in NPHS1; uncertain pathological significance; does not affect protein expression on the cell surface. 5 PublicationsCorresponds to variant rs33950747dbSNPEnsembl.1
Natural variantiVAR_064207412G → C in NPHS1. 1 PublicationCorresponds to variant rs142008044dbSNPEnsembl.1
Natural variantiVAR_064208417C → F in NPHS1. 1 PublicationCorresponds to variant rs386833875dbSNPEnsembl.1
Natural variantiVAR_075252446I → N in NPHS1; unknown pathological significance. 1 PublicationCorresponds to variant rs386833879dbSNPEnsembl.1
Natural variantiVAR_064209460R → Q in NPHS1. 3 PublicationsCorresponds to variant rs386833880dbSNPEnsembl.1
Natural variantiVAR_013043465C → Y in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833881dbSNPEnsembl.1
Natural variantiVAR_064210519P → S in NPHS1. 1 PublicationCorresponds to variant rs386833884dbSNPEnsembl.1
Natural variantiVAR_013044528C → F in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833885dbSNPEnsembl.1
Natural variantiVAR_064211558R → C in NPHS1. 2 PublicationsCorresponds to variant rs386833886dbSNPEnsembl.1
Natural variantiVAR_064212569S → R in NPHS1. 1 PublicationCorresponds to variant rs386833888dbSNPEnsembl.1
Natural variantiVAR_064213572S → N in NPHS1. 1 PublicationCorresponds to variant rs386833889dbSNPEnsembl.1
Natural variantiVAR_064214575P → Q in NPHS1. 1 PublicationCorresponds to variant rs386833890dbSNPEnsembl.1
Natural variantiVAR_064215586R → G in NPHS1. 1 PublicationCorresponds to variant rs730880174dbSNPEnsembl.1
Natural variantiVAR_064216587L → R in NPHS1. 1 PublicationCorresponds to variant rs386833892dbSNPEnsembl.1
Natural variantiVAR_072378608V → I in NPHS1. 1 PublicationCorresponds to variant rs367976914dbSNPEnsembl.1
Natural variantiVAR_013045610L → Q in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833894dbSNPEnsembl.1
Natural variantiVAR_013046623C → F in NPHS1; lack of protein expression on the cell surface. 4 PublicationsCorresponds to variant rs386833895dbSNPEnsembl.1
Natural variantiVAR_064218673N → K in NPHS1. 1 PublicationCorresponds to variant rs191807913dbSNPEnsembl.1
Natural variantiVAR_064219681W → C in NPHS1. 1 PublicationCorresponds to variant rs386833900dbSNPEnsembl.1
Natural variantiVAR_064220709V → G in NPHS1. 1 PublicationCorresponds to variant rs386833902dbSNPEnsembl.1
Natural variantiVAR_075253711R → H in NPHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_013047724S → C in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833905dbSNPEnsembl.1
Natural variantiVAR_075254736V → M in NPHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_064222739A → V in NPHS1. 1 PublicationCorresponds to variant rs386833907dbSNPEnsembl.1
Natural variantiVAR_067252742I → T in NPHS1. 1 PublicationCorresponds to variant rs386833908dbSNPEnsembl.1
Natural variantiVAR_013048743R → C in NPHS1; does not affect protein expression on the cell surface. 4 PublicationsCorresponds to variant rs386833909dbSNPEnsembl.1
Natural variantiVAR_013050802R → P in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs114203578dbSNPEnsembl.1
Natural variantiVAR_013049802R → W in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833911dbSNPEnsembl.1
Natural variantiVAR_013051806A → D in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833912dbSNPEnsembl.1
Natural variantiVAR_013052819D → V in NPHS1. 2 PublicationsCorresponds to variant rs387906357dbSNPEnsembl.1
Natural variantiVAR_064223822V → M in NPHS1. 1 PublicationCorresponds to variant rs267606918dbSNPEnsembl.1
Natural variantiVAR_013053831R → C in NPHS1; lack of protein expression on the cell surface. 2 PublicationsCorresponds to variant rs386833915dbSNPEnsembl.1
Natural variantiVAR_064224832L → P in NPHS1; the mutant protein is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant rs386833916dbSNPEnsembl.1
Natural variantiVAR_064225834V → F in NPHS1. 1 PublicationCorresponds to variant rs386833917dbSNPEnsembl.1
Natural variantiVAR_064227910S → P in NPHS1. 1 PublicationCorresponds to variant rs143649022dbSNPEnsembl.1
Natural variantiVAR_072162912A → T in NPHS1. 1 PublicationCorresponds to variant rs763162233dbSNPEnsembl.1
Natural variantiVAR_064228976R → S in NPHS1. 2 PublicationsCorresponds to variant rs138656762dbSNPEnsembl.1
Natural variantiVAR_0723791016S → N in NPHS1. 1 PublicationCorresponds to variant rs367986918dbSNPEnsembl.1
Natural variantiVAR_0721631020G → V in NPHS1. 1 PublicationCorresponds to variant rs749003854dbSNPEnsembl.1
Natural variantiVAR_0130551140R → C in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant rs143092783dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi4868.
MalaCardsiNPHS1.
MIMi256300. phenotype.
OpenTargetsiENSG00000161270.
Orphaneti839. 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.
PharmGKBiPA31709.

Polymorphism and mutation databases

BioMutaiNPHS1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000001505223 – 1241NephrinAdd BLAST1219

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi40N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi53 ↔ 111PROSITE-ProRule annotation
Disulfide bondi160 ↔ 217PROSITE-ProRule annotation
Disulfide bondi265 ↔ 317PROSITE-ProRule annotation
Glycosylationi356N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi361 ↔ 417PROSITE-ProRule annotation
Glycosylationi401N-linked (GlcNAc...)Sequence analysis1
Modified residuei432PhosphoserineCombined sources1
Disulfide bondi465 ↔ 528PROSITE-ProRule annotation
Glycosylationi547N-linked (GlcNAc...)Sequence analysis1
Glycosylationi553N-linked (GlcNAc...)Sequence analysis1
Glycosylationi564N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi567 ↔ 623PROSITE-ProRule annotation
Glycosylationi577N-linked (GlcNAc...)Sequence analysis1
Glycosylationi680N-linked (GlcNAc...)Sequence analysis1
Glycosylationi708N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi761 ↔ 816PROSITE-ProRule annotation
Disulfide bondi863 ↔ 920PROSITE-ProRule annotation
Glycosylationi908N-linked (GlcNAc...)Sequence analysis1
Modified residuei1098PhosphoserineBy similarity1
Modified residuei1101PhosphothreonineBy similarity1
Modified residuei1105PhosphoserineBy similarity1
Modified residuei1193Phosphotyrosine; by FYNBy similarity1

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiO60500.
PeptideAtlasiO60500.
PRIDEiO60500.

PTM databases

iPTMnetiO60500.
PhosphoSitePlusiO60500.

Expressioni

Tissue specificityi

Specifically expressed in podocytes of kidney glomeruli.

Developmental stagei

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

Gene expression databases

BgeeiENSG00000161270.
CleanExiHS_NPHS1.
GenevisibleiO60500. HS.

Organism-specific databases

HPAiCAB035555.

Interactioni

Subunit structurei

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. Interacts with KIRREL3. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1 (By similarity). Interacts with NPHS2 (PubMed:11562357).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
IQGAP1P469405EBI-996920,EBI-297509
NCK1P163333EBI-996920,EBI-389883

GO - Molecular functioni

  • myosin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi110928. 16 interactors.
DIPiDIP-36424N.
IntActiO60500. 7 interactors.
STRINGi9606.ENSP00000368190.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ZRTX-ray1.74B1188-1198[»]
ProteinModelPortaliO60500.
SMRiO60500.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 130Ig-like C2-type 1Add BLAST104
Domaini143 – 234Ig-like C2-type 2Add BLAST92
Domaini242 – 333Ig-like C2-type 3Add BLAST92
Domaini340 – 434Ig-like C2-type 4Add BLAST95
Domaini440 – 540Ig-like C2-type 5Add BLAST101
Domaini544 – 635Ig-like C2-type 6Add BLAST92
Domaini740 – 832Ig-like C2-type 7Add BLAST93
Domaini838 – 939Ig-like C2-type 8Add BLAST102
Domaini943 – 1038Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST96

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1160 – 1241Binds to NPHS2Add BLAST82

Sequence similaritiesi

Belongs to the immunoglobulin superfamily.Curated
Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3515. Eukaryota.
ENOG410XRJN. LUCA.
GeneTreeiENSGT00550000074545.
HOGENOMiHOG000113844.
HOVERGENiHBG031752.
InParanoidiO60500.
OMAiGSDQTNI.
OrthoDBiEOG091G00UN.
PhylomeDBiO60500.
TreeFamiTF327139.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 10 hits.
InterProiIPR013162. CD80_C2-set.
IPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013106. Ig_V-set.
[Graphical view]
PfamiPF08205. C2-set_2. 5 hits.
PF00041. fn3. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 1 hit.
SM00409. IG. 8 hits.
SM00408. IGc2. 7 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 9 hits.
SSF49265. SSF49265. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
PS50835. IG_LIKE. 7 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60500-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MALGTTLRAS LLLLGLLTEG LAQLAIPASV PRGFWALPEN LTVVEGASVE
60 70 80 90 100
LRCGVSTPGS AVQWAKDGLL LGPDPRIPGF PRYRLEGDPA RGEFHLHIEA
110 120 130 140 150
CDLSDDAEYE CQVGRSEMGP ELVSPRVILS ILVPPKLLLL TPEAGTMVTW
160 170 180 190 200
VAGQEYVVNC VSGDAKPAPD ITILLSGQTI SDISANVNEG SQQKLFTVEA
210 220 230 240 250
TARVTPRSSD NRQLLVCEAS SPALEAPIKA SFTVNVLFPP GPPVIEWPGL
260 270 280 290 300
DEGHVRAGQS LELPCVARGG NPLATLQWLK NGQPVSTAWG TEHTQAVARS
310 320 330 340 350
VLVMTVRPED HGAQLSCEAH NSVSAGTQEH GITLQVTFPP SAIIILGSAS
360 370 380 390 400
QTENKNVTLS CVSKSSRPRV LLRWWLGWRQ LLPMEETVMD GLHGGHISMS
410 420 430 440 450
NLTFLARRED NGLTLTCEAF SEAFTKETFK KSLILNVKYP AQKLWIEGPP
460 470 480 490 500
EGQKLRAGTR VRLVCLAIGG NPEPSLMWYK DSRTVTESRL PQESRRVHLG
510 520 530 540 550
SVEKSGSTFS RELVLVTGPS DNQAKFTCKA GQLSASTQLA VQFPPTNVTI
560 570 580 590 600
LANASALRPG DALNLTCVSV SSNPPVNLSW DKEGERLEGV AAPPRRAPFK
610 620 630 640 650
GSAAARSVLL QVSSRDHGQR VTCRAHSAEL RETVSSFYRL NVLYRPEFLG
660 670 680 690 700
EQVLVVTAVE QGEALLPVSV SANPAPEAFN WTFRGYRLSP AGGPRHRILS
710 720 730 740 750
SGALHLWNVT RADDGLYQLH CQNSEGTAEA RLRLDVHYAP TIRALQDPTE
760 770 780 790 800
VNVGGSVDIV CTVDANPILP GMFNWERLGE DEEDQSLDDM EKISRGPTGR
810 820 830 840 850
LRIHHAKLAQ AGAYQCIVDN GVAPPARRLL RLVVRFAPQV EHPTPLTKVA
860 870 880 890 900
AAGDSTSSAT LHCRARGVPN IVFTWTKNGV PLDLQDPRYT EHTYHQGGVH
910 920 930 940 950
SSLLTIANVS AAQDYALFTC TATNALGSDQ TNIQLVSISR PDPPSGLKVV
960 970 980 990 1000
SLTPHSVGLE WKPGFDGGLP QRFCIRYEAL GTPGFHYVDV VPPQATTFTL
1010 1020 1030 1040 1050
TGLQPSTRYR VWLLASNALG DSGLADKGTQ LPITTPGLHQ PSGEPEDQLP
1060 1070 1080 1090 1100
TEPPSGPSGL PLLPVLFALG GLLLLSNASC VGGVLWQRRL RRLAEGISEK
1110 1120 1130 1140 1150
TEAGSEEDRV RNEYEESQWT GERDTQSSTV STTEAEPYYR SLRDFSPQLP
1160 1170 1180 1190 1200
PTQEEVSYSR GFTGEDEDMA FPGHLYDEVE RTYPPSGAWG PLYDEVQMGP
1210 1220 1230 1240
WDLHWPEDTY QDPRGIYDQV AGDLDTLEPD SLPFELRGHL V
Length:1,241
Mass (Da):134,742
Last modified:August 1, 1998 - v1
Checksum:i7F5AFAF078BCF532
GO
Isoform 2 (identifier: O60500-2) [UniParc]FASTAAdd to basket
Also known as: Alpha

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

Show »
Length:1,201
Mass (Da):130,546
Checksum:i189283B140D831DF
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01302964W → S in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833897dbSNPEnsembl.1
Natural variantiVAR_06419496L → V in NPHS1. 1 PublicationCorresponds to variant rs386833929dbSNPEnsembl.1
Natural variantiVAR_064195107A → T in NPHS1. 1 PublicationCorresponds to variant rs386833933dbSNPEnsembl.1
Natural variantiVAR_064196107A → V in NPHS1. 1 PublicationCorresponds to variant rs386833934dbSNPEnsembl.1
Natural variantiVAR_013030117E → K.4 PublicationsCorresponds to variant rs3814995dbSNPEnsembl.1
Natural variantiVAR_064197167P → L in NPHS1. 1 PublicationCorresponds to variant rs386833945dbSNPEnsembl.1
Natural variantiVAR_013031171I → N in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833946dbSNPEnsembl.1
Natural variantiVAR_013032172Missing in NPHS1. 4 Publications1
Natural variantiVAR_013033173I → N in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833949dbSNPEnsembl.1
Natural variantiVAR_072375188N → I in NPHS1. 1 PublicationCorresponds to variant rs145125791dbSNPEnsembl.1
Natural variantiVAR_072376189E → K in NPHS1. 1 PublicationCorresponds to variant rs139598219dbSNPEnsembl.1
Natural variantiVAR_013034205 – 207TPR → I in NPHS1. 2 Publications3
Natural variantiVAR_049970233T → A.Corresponds to variant rs35238405dbSNPEnsembl.1
Natural variantiVAR_072161237L → P in NPHS1. 1 PublicationCorresponds to variant rs373835033dbSNPEnsembl.1
Natural variantiVAR_064198256R → W in NPHS1. 2 PublicationsCorresponds to variant rs386833960dbSNPEnsembl.1
Natural variantiVAR_064199264P → R in NPHS1; unknown pathological significance. 4 PublicationsCorresponds to variant rs34982899dbSNPEnsembl.1
Natural variantiVAR_064200265C → R in NPHS1. 1 PublicationCorresponds to variant rs267606917dbSNPEnsembl.1
Natural variantiVAR_013035270G → C in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833961dbSNPEnsembl.1
Natural variantiVAR_072377294T → I in NPHS1. 1 PublicationCorresponds to variant rs113825926dbSNPEnsembl.1
Natural variantiVAR_064201299R → C in NPHS1. 1 PublicationCorresponds to variant rs753476209dbSNPEnsembl.1
Natural variantiVAR_064202340P → H in NPHS1. 1 PublicationCorresponds to variant rs386833861dbSNPEnsembl.1
Natural variantiVAR_064203347G → E in NPHS1. 1 PublicationCorresponds to variant rs386833862dbSNPEnsembl.1
Natural variantiVAR_013036350S → P in NPHS1; lack of protein expression on the cell surface. 4 PublicationsCorresponds to variant rs386833863dbSNPEnsembl.1
Natural variantiVAR_013037366S → R in NPHS1; lack of protein expression on the cell surface; the mutant protein is retained in the endoplasmic reticulum. 4 PublicationsCorresponds to variant rs386833864dbSNPEnsembl.1
Natural variantiVAR_013038367R → C in NPHS1; lack of protein expression on the cell surface. 5 PublicationsCorresponds to variant rs386833865dbSNPEnsembl.1
Natural variantiVAR_064204368P → L in NPHS1. 1 PublicationCorresponds to variant rs386833867dbSNPEnsembl.1
Natural variantiVAR_013039368P → S in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833866dbSNPEnsembl.1
Natural variantiVAR_013040376L → V in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833868dbSNPEnsembl.1
Natural variantiVAR_064205379R → W in NPHS1. 1 PublicationCorresponds to variant rs386833871dbSNPEnsembl.1
Natural variantiVAR_049971392L → P.Corresponds to variant rs34320609dbSNPEnsembl.1
Natural variantiVAR_064206407R → W in NPHS1. 1 PublicationCorresponds to variant rs386833874dbSNPEnsembl.1
Natural variantiVAR_013041408R → Q in NPHS1; uncertain pathological significance; does not affect protein expression on the cell surface. 5 PublicationsCorresponds to variant rs33950747dbSNPEnsembl.1
Natural variantiVAR_064207412G → C in NPHS1. 1 PublicationCorresponds to variant rs142008044dbSNPEnsembl.1
Natural variantiVAR_064208417C → F in NPHS1. 1 PublicationCorresponds to variant rs386833875dbSNPEnsembl.1
Natural variantiVAR_075252446I → N in NPHS1; unknown pathological significance. 1 PublicationCorresponds to variant rs386833879dbSNPEnsembl.1
Natural variantiVAR_013042447E → K.2 PublicationsCorresponds to variant rs28939695dbSNPEnsembl.1
Natural variantiVAR_064209460R → Q in NPHS1. 3 PublicationsCorresponds to variant rs386833880dbSNPEnsembl.1
Natural variantiVAR_013043465C → Y in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833881dbSNPEnsembl.1
Natural variantiVAR_064210519P → S in NPHS1. 1 PublicationCorresponds to variant rs386833884dbSNPEnsembl.1
Natural variantiVAR_013044528C → F in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833885dbSNPEnsembl.1
Natural variantiVAR_064211558R → C in NPHS1. 2 PublicationsCorresponds to variant rs386833886dbSNPEnsembl.1
Natural variantiVAR_064212569S → R in NPHS1. 1 PublicationCorresponds to variant rs386833888dbSNPEnsembl.1
Natural variantiVAR_064213572S → N in NPHS1. 1 PublicationCorresponds to variant rs386833889dbSNPEnsembl.1
Natural variantiVAR_064214575P → Q in NPHS1. 1 PublicationCorresponds to variant rs386833890dbSNPEnsembl.1
Natural variantiVAR_064215586R → G in NPHS1. 1 PublicationCorresponds to variant rs730880174dbSNPEnsembl.1
Natural variantiVAR_064216587L → R in NPHS1. 1 PublicationCorresponds to variant rs386833892dbSNPEnsembl.1
Natural variantiVAR_072378608V → I in NPHS1. 1 PublicationCorresponds to variant rs367976914dbSNPEnsembl.1
Natural variantiVAR_013045610L → Q in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833894dbSNPEnsembl.1
Natural variantiVAR_064217617H → R Found in patients with nephrotic syndrome; unknown pathological significance. 1 PublicationCorresponds to variant rs764058957dbSNPEnsembl.1
Natural variantiVAR_013046623C → F in NPHS1; lack of protein expression on the cell surface. 4 PublicationsCorresponds to variant rs386833895dbSNPEnsembl.1
Natural variantiVAR_064218673N → K in NPHS1. 1 PublicationCorresponds to variant rs191807913dbSNPEnsembl.1
Natural variantiVAR_064219681W → C in NPHS1. 1 PublicationCorresponds to variant rs386833900dbSNPEnsembl.1
Natural variantiVAR_064220709V → G in NPHS1. 1 PublicationCorresponds to variant rs386833902dbSNPEnsembl.1
Natural variantiVAR_075253711R → H in NPHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_013047724S → C in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833905dbSNPEnsembl.1
Natural variantiVAR_064221725E → D Found in patients with nephrotic syndrome; unknown pathological significance. 1 Publication1
Natural variantiVAR_075254736V → M in NPHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_064222739A → V in NPHS1. 1 PublicationCorresponds to variant rs386833907dbSNPEnsembl.1
Natural variantiVAR_067252742I → T in NPHS1. 1 PublicationCorresponds to variant rs386833908dbSNPEnsembl.1
Natural variantiVAR_013048743R → C in NPHS1; does not affect protein expression on the cell surface. 4 PublicationsCorresponds to variant rs386833909dbSNPEnsembl.1
Natural variantiVAR_013050802R → P in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs114203578dbSNPEnsembl.1
Natural variantiVAR_013049802R → W in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833911dbSNPEnsembl.1
Natural variantiVAR_013051806A → D in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant rs386833912dbSNPEnsembl.1
Natural variantiVAR_013052819D → V in NPHS1. 2 PublicationsCorresponds to variant rs387906357dbSNPEnsembl.1
Natural variantiVAR_064223822V → M in NPHS1. 1 PublicationCorresponds to variant rs267606918dbSNPEnsembl.1
Natural variantiVAR_013053831R → C in NPHS1; lack of protein expression on the cell surface. 2 PublicationsCorresponds to variant rs386833915dbSNPEnsembl.1
Natural variantiVAR_064224832L → P in NPHS1; the mutant protein is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant rs386833916dbSNPEnsembl.1
Natural variantiVAR_064225834V → F in NPHS1. 1 PublicationCorresponds to variant rs386833917dbSNPEnsembl.1
Natural variantiVAR_064226851A → V Found in patients with nephrotic syndrome; unknown pathological significance. 1 Publication1
Natural variantiVAR_064227910S → P in NPHS1. 1 PublicationCorresponds to variant rs143649022dbSNPEnsembl.1
Natural variantiVAR_072162912A → T in NPHS1. 1 PublicationCorresponds to variant rs763162233dbSNPEnsembl.1
Natural variantiVAR_064228976R → S in NPHS1. 2 PublicationsCorresponds to variant rs138656762dbSNPEnsembl.1
Natural variantiVAR_049972991V → L.Corresponds to variant rs34736717dbSNPEnsembl.1
Natural variantiVAR_0723791016S → N in NPHS1. 1 PublicationCorresponds to variant rs367986918dbSNPEnsembl.1
Natural variantiVAR_0721631020G → V in NPHS1. 1 PublicationCorresponds to variant rs749003854dbSNPEnsembl.1
Natural variantiVAR_0130541077N → S.3 PublicationsCorresponds to variant rs4806213dbSNPEnsembl.1
Natural variantiVAR_0130551140R → C in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant rs143092783dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0025981056 – 1095Missing in isoform 2. 1 PublicationAdd BLAST40

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS32996.1. [O60500-1]
PIRiT37190.
RefSeqiNP_004637.1. NM_004646.3. [O60500-1]
UniGeneiHs.122186.

Genome annotation databases

EnsembliENST00000353632; ENSP00000343634; ENSG00000161270. [O60500-2]
ENST00000378910; ENSP00000368190; ENSG00000161270. [O60500-1]
GeneIDi4868.
KEGGihsa:4868.
UCSCiuc002oby.4. human. [O60500-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS32996.1. [O60500-1]
PIRiT37190.
RefSeqiNP_004637.1. NM_004646.3. [O60500-1]
UniGeneiHs.122186.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ZRTX-ray1.74B1188-1198[»]
ProteinModelPortaliO60500.
SMRiO60500.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110928. 16 interactors.
DIPiDIP-36424N.
IntActiO60500. 7 interactors.
STRINGi9606.ENSP00000368190.

PTM databases

iPTMnetiO60500.
PhosphoSitePlusiO60500.

Polymorphism and mutation databases

BioMutaiNPHS1.

Proteomic databases

PaxDbiO60500.
PeptideAtlasiO60500.
PRIDEiO60500.

Protocols and materials databases

DNASUi4868.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000353632; ENSP00000343634; ENSG00000161270. [O60500-2]
ENST00000378910; ENSP00000368190; ENSG00000161270. [O60500-1]
GeneIDi4868.
KEGGihsa:4868.
UCSCiuc002oby.4. human. [O60500-1]

Organism-specific databases

CTDi4868.
DisGeNETi4868.
GeneCardsiNPHS1.
HGNCiHGNC:7908. NPHS1.
HPAiCAB035555.
MalaCardsiNPHS1.
MIMi256300. phenotype.
602716. gene.
neXtProtiNX_O60500.
OpenTargetsiENSG00000161270.
Orphaneti839. 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.
PharmGKBiPA31709.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3515. Eukaryota.
ENOG410XRJN. LUCA.
GeneTreeiENSGT00550000074545.
HOGENOMiHOG000113844.
HOVERGENiHBG031752.
InParanoidiO60500.
OMAiGSDQTNI.
OrthoDBiEOG091G00UN.
PhylomeDBiO60500.
TreeFamiTF327139.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000161270-MONOMER.
ReactomeiR-HSA-373753. Nephrin interactions.
SignaLinkiO60500.
SIGNORiO60500.

Miscellaneous databases

GeneWikiiNephrin.
GenomeRNAii4868.
PROiO60500.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000161270.
CleanExiHS_NPHS1.
GenevisibleiO60500. HS.

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 10 hits.
InterProiIPR013162. CD80_C2-set.
IPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013106. Ig_V-set.
[Graphical view]
PfamiPF08205. C2-set_2. 5 hits.
PF00041. fn3. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 1 hit.
SM00409. IG. 8 hits.
SM00408. IGc2. 7 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 9 hits.
SSF49265. SSF49265. 1 hit.
PROSITEiPS50853. FN3. 1 hit.
PS50835. IG_LIKE. 7 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNPHN_HUMAN
AccessioniPrimary (citable) accession number: O60500
Secondary accession number(s): A6NDH2, C3RX61
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: August 1, 1998
Last modified: November 30, 2016
This is version 158 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.