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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

  • axon guidance Source: Reactome
  • 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
  • T cell costimulation Source: Reactome

Keywordsi

Molecular functionDevelopmental protein
Biological processCell adhesion, Myogenesis

Enzyme and pathway databases

ReactomeiR-HSA-373753. Nephrin family interactions.
R-HSA-375165. NCAM signaling for neurite out-growth.
R-HSA-389359. CD28 dependent Vav1 pathway.
R-HSA-8866376. Reelin signalling pathway.
R-HSA-983695. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers.
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

EuPathDBiHostDB:ENSG00000161270.19.
HGNCiHGNC:7908. NPHS1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Nephrotic syndrome 1 (NPHS1)13 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 dbSNP:rs386833897Ensembl.1
Natural variantiVAR_06419496L → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833929Ensembl.1
Natural variantiVAR_064195107A → T in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833933Ensembl.1
Natural variantiVAR_064196107A → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833934Ensembl.1
Natural variantiVAR_064197167P → L in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833945Ensembl.1
Natural variantiVAR_013031171I → N in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833946Ensembl.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 dbSNP:rs386833949Ensembl.1
Natural variantiVAR_072375188N → I in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs145125791Ensembl.1
Natural variantiVAR_072376189E → K in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs139598219Ensembl.1
Natural variantiVAR_013034205 – 207TPR → I in NPHS1. 2 Publications3
Natural variantiVAR_072161237L → P in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs373835033Ensembl.1
Natural variantiVAR_064198256R → W in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs386833960Ensembl.1
Natural variantiVAR_064199264P → R in NPHS1; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs34982899Ensembl.1
Natural variantiVAR_064200265C → R in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs267606917Ensembl.1
Natural variantiVAR_013035270G → C in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833961Ensembl.1
Natural variantiVAR_072377294T → I in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs113825926Ensembl.1
Natural variantiVAR_064201299R → C in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs753476209Ensembl.1
Natural variantiVAR_064202340P → H in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833861Ensembl.1
Natural variantiVAR_064203347G → E in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833862Ensembl.1
Natural variantiVAR_013036350S → P in NPHS1; lack of protein expression on the cell surface. 4 PublicationsCorresponds to variant dbSNP:rs386833863Ensembl.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 dbSNP:rs386833864Ensembl.1
Natural variantiVAR_013038367R → C in NPHS1; lack of protein expression on the cell surface. 5 PublicationsCorresponds to variant dbSNP:rs386833865Ensembl.1
Natural variantiVAR_064204368P → L in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833867Ensembl.1
Natural variantiVAR_013039368P → S in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833866Ensembl.1
Natural variantiVAR_013040376L → V in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833868Ensembl.1
Natural variantiVAR_064205379R → W in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833871Ensembl.1
Natural variantiVAR_064206407R → W in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833874Ensembl.1
Natural variantiVAR_013041408R → Q in NPHS1; uncertain pathological significance; does not affect protein expression on the cell surface. 5 PublicationsCorresponds to variant dbSNP:rs33950747Ensembl.1
Natural variantiVAR_064207412G → C in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs142008044Ensembl.1
Natural variantiVAR_064208417C → F in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833875Ensembl.1
Natural variantiVAR_075252446I → N in NPHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs386833879Ensembl.1
Natural variantiVAR_064209460R → Q in NPHS1. 3 PublicationsCorresponds to variant dbSNP:rs386833880Ensembl.1
Natural variantiVAR_013043465C → Y in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833881Ensembl.1
Natural variantiVAR_064210519P → S in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833884Ensembl.1
Natural variantiVAR_013044528C → F in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833885Ensembl.1
Natural variantiVAR_064211558R → C in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs386833886Ensembl.1
Natural variantiVAR_064212569S → R in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833888Ensembl.1
Natural variantiVAR_064213572S → N in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833889Ensembl.1
Natural variantiVAR_064214575P → Q in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833890Ensembl.1
Natural variantiVAR_064215586R → G in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs730880174Ensembl.1
Natural variantiVAR_064216587L → R in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833892Ensembl.1
Natural variantiVAR_072378608V → I in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs367976914Ensembl.1
Natural variantiVAR_013045610L → Q in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833894Ensembl.1
Natural variantiVAR_013046623C → F in NPHS1; lack of protein expression on the cell surface. 4 PublicationsCorresponds to variant dbSNP:rs386833895Ensembl.1
Natural variantiVAR_064218673N → K in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs191807913Ensembl.1
Natural variantiVAR_064219681W → C in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833900Ensembl.1
Natural variantiVAR_064220709V → G in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833902Ensembl.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 dbSNP:rs386833905Ensembl.1
Natural variantiVAR_075254736V → M in NPHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_064222739A → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833907Ensembl.1
Natural variantiVAR_067252742I → T in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833908Ensembl.1
Natural variantiVAR_013048743R → C in NPHS1; does not affect protein expression on the cell surface. 4 PublicationsCorresponds to variant dbSNP:rs386833909Ensembl.1
Natural variantiVAR_013050802R → P in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs114203578Ensembl.1
Natural variantiVAR_013049802R → W in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833911Ensembl.1
Natural variantiVAR_013051806A → D in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833912Ensembl.1
Natural variantiVAR_013052819D → V in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs387906357Ensembl.1
Natural variantiVAR_064223822V → M in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs267606918Ensembl.1
Natural variantiVAR_013053831R → C in NPHS1; lack of protein expression on the cell surface. 2 PublicationsCorresponds to variant dbSNP:rs386833915Ensembl.1
Natural variantiVAR_064224832L → P in NPHS1; the mutant protein is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs386833916Ensembl.1
Natural variantiVAR_064225834V → F in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833917Ensembl.1
Natural variantiVAR_064227910S → P in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs143649022Ensembl.1
Natural variantiVAR_072162912A → T in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs763162233Ensembl.1
Natural variantiVAR_064228976R → S in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs138656762Ensembl.1
Natural variantiVAR_0723791016S → N in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs367986918Ensembl.1
Natural variantiVAR_0721631020G → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs749003854Ensembl.1
Natural variantiVAR_0130551140R → C in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs143092783Ensembl.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...) asparagineSequence analysis1
Disulfide bondi53 ↔ 111PROSITE-ProRule annotation
Disulfide bondi160 ↔ 217PROSITE-ProRule annotation
Disulfide bondi265 ↔ 317PROSITE-ProRule annotation
Glycosylationi356N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi361 ↔ 417PROSITE-ProRule annotation
Glycosylationi401N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei432PhosphoserineCombined sources1
Disulfide bondi465 ↔ 528PROSITE-ProRule annotation
Glycosylationi547N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi553N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi564N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi567 ↔ 623PROSITE-ProRule annotation
Glycosylationi577N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi680N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi708N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi761 ↔ 816PROSITE-ProRule annotation
Disulfide bondi863 ↔ 920PROSITE-ProRule annotation
Glycosylationi908N-linked (GlcNAc...) asparagineSequence 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

Show more details

GO - Molecular functioni

  • myosin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi110928. 16 interactors.
DIPiDIP-36424N.
ELMiO60500.
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

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

CDDicd00063. FN3. 1 hit.
Gene3Di2.60.40.10. 10 hits.
InterProiView protein in InterPro
IPR013162. CD80_C2-set.
IPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR013106. Ig_V-set.
PfamiView protein in Pfam
PF08205. C2-set_2. 5 hits.
PF00041. fn3. 1 hit.
PF07686. V-set. 1 hit.
SMARTiView protein in SMART
SM00060. FN3. 1 hit.
SM00409. IG. 8 hits.
SM00408. IGc2. 7 hits.
SUPFAMiSSF48726. SSF48726. 9 hits.
SSF49265. SSF49265. 1 hit.
PROSITEiView protein in PROSITE
PS50853. FN3. 1 hit.
PS50835. IG_LIKE. 7 hits.

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 dbSNP:rs386833897Ensembl.1
Natural variantiVAR_06419496L → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833929Ensembl.1
Natural variantiVAR_064195107A → T in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833933Ensembl.1
Natural variantiVAR_064196107A → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833934Ensembl.1
Natural variantiVAR_013030117E → K4 PublicationsCorresponds to variant dbSNP:rs3814995Ensembl.1
Natural variantiVAR_064197167P → L in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833945Ensembl.1
Natural variantiVAR_013031171I → N in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833946Ensembl.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 dbSNP:rs386833949Ensembl.1
Natural variantiVAR_072375188N → I in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs145125791Ensembl.1
Natural variantiVAR_072376189E → K in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs139598219Ensembl.1
Natural variantiVAR_013034205 – 207TPR → I in NPHS1. 2 Publications3
Natural variantiVAR_049970233T → A. Corresponds to variant dbSNP:rs35238405Ensembl.1
Natural variantiVAR_072161237L → P in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs373835033Ensembl.1
Natural variantiVAR_064198256R → W in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs386833960Ensembl.1
Natural variantiVAR_064199264P → R in NPHS1; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs34982899Ensembl.1
Natural variantiVAR_064200265C → R in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs267606917Ensembl.1
Natural variantiVAR_013035270G → C in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833961Ensembl.1
Natural variantiVAR_072377294T → I in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs113825926Ensembl.1
Natural variantiVAR_064201299R → C in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs753476209Ensembl.1
Natural variantiVAR_064202340P → H in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833861Ensembl.1
Natural variantiVAR_064203347G → E in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833862Ensembl.1
Natural variantiVAR_013036350S → P in NPHS1; lack of protein expression on the cell surface. 4 PublicationsCorresponds to variant dbSNP:rs386833863Ensembl.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 dbSNP:rs386833864Ensembl.1
Natural variantiVAR_013038367R → C in NPHS1; lack of protein expression on the cell surface. 5 PublicationsCorresponds to variant dbSNP:rs386833865Ensembl.1
Natural variantiVAR_064204368P → L in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833867Ensembl.1
Natural variantiVAR_013039368P → S in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833866Ensembl.1
Natural variantiVAR_013040376L → V in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833868Ensembl.1
Natural variantiVAR_064205379R → W in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833871Ensembl.1
Natural variantiVAR_049971392L → P. Corresponds to variant dbSNP:rs34320609Ensembl.1
Natural variantiVAR_064206407R → W in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833874Ensembl.1
Natural variantiVAR_013041408R → Q in NPHS1; uncertain pathological significance; does not affect protein expression on the cell surface. 5 PublicationsCorresponds to variant dbSNP:rs33950747Ensembl.1
Natural variantiVAR_064207412G → C in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs142008044Ensembl.1
Natural variantiVAR_064208417C → F in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833875Ensembl.1
Natural variantiVAR_075252446I → N in NPHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs386833879Ensembl.1
Natural variantiVAR_013042447E → K2 PublicationsCorresponds to variant dbSNP:rs28939695Ensembl.1
Natural variantiVAR_064209460R → Q in NPHS1. 3 PublicationsCorresponds to variant dbSNP:rs386833880Ensembl.1
Natural variantiVAR_013043465C → Y in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833881Ensembl.1
Natural variantiVAR_064210519P → S in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833884Ensembl.1
Natural variantiVAR_013044528C → F in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833885Ensembl.1
Natural variantiVAR_064211558R → C in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs386833886Ensembl.1
Natural variantiVAR_064212569S → R in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833888Ensembl.1
Natural variantiVAR_064213572S → N in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833889Ensembl.1
Natural variantiVAR_064214575P → Q in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833890Ensembl.1
Natural variantiVAR_064215586R → G in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs730880174Ensembl.1
Natural variantiVAR_064216587L → R in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833892Ensembl.1
Natural variantiVAR_072378608V → I in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs367976914Ensembl.1
Natural variantiVAR_013045610L → Q in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833894Ensembl.1
Natural variantiVAR_064217617H → R Found in patients with nephrotic syndrome; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs764058957Ensembl.1
Natural variantiVAR_013046623C → F in NPHS1; lack of protein expression on the cell surface. 4 PublicationsCorresponds to variant dbSNP:rs386833895Ensembl.1
Natural variantiVAR_064218673N → K in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs191807913Ensembl.1
Natural variantiVAR_064219681W → C in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833900Ensembl.1
Natural variantiVAR_064220709V → G in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833902Ensembl.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 dbSNP:rs386833905Ensembl.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 dbSNP:rs386833907Ensembl.1
Natural variantiVAR_067252742I → T in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833908Ensembl.1
Natural variantiVAR_013048743R → C in NPHS1; does not affect protein expression on the cell surface. 4 PublicationsCorresponds to variant dbSNP:rs386833909Ensembl.1
Natural variantiVAR_013050802R → P in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs114203578Ensembl.1
Natural variantiVAR_013049802R → W in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833911Ensembl.1
Natural variantiVAR_013051806A → D in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833912Ensembl.1
Natural variantiVAR_013052819D → V in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs387906357Ensembl.1
Natural variantiVAR_064223822V → M in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs267606918Ensembl.1
Natural variantiVAR_013053831R → C in NPHS1; lack of protein expression on the cell surface. 2 PublicationsCorresponds to variant dbSNP:rs386833915Ensembl.1
Natural variantiVAR_064224832L → P in NPHS1; the mutant protein is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs386833916Ensembl.1
Natural variantiVAR_064225834V → F in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833917Ensembl.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 dbSNP:rs143649022Ensembl.1
Natural variantiVAR_072162912A → T in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs763162233Ensembl.1
Natural variantiVAR_064228976R → S in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs138656762Ensembl.1
Natural variantiVAR_049972991V → L. Corresponds to variant dbSNP:rs34736717Ensembl.1
Natural variantiVAR_0723791016S → N in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs367986918Ensembl.1
Natural variantiVAR_0721631020G → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs749003854Ensembl.1
Natural variantiVAR_0130541077N → S3 PublicationsCorresponds to variant dbSNP:rs4806213Ensembl.1
Natural variantiVAR_0130551140R → C in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs143092783Ensembl.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]
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