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O60500

- NPHN_HUMAN

UniProt

O60500 - NPHN_HUMAN

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Protein
Nephrin
Gene
NPHS1, NPHN
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. myosin binding Source: UniProtKB
  2. protein binding Source: IntAct

GO - Biological processi

  1. JNK cascade Source: Ensembl
  2. cell adhesion Source: ProtInc
  3. excretion Source: ProtInc
  4. glomerular basement membrane development Source: UniProtKB
  5. glomerular visceral epithelial cell development Source: UniProtKB
  6. myoblast fusion Source: Ensembl
  7. positive regulation of actin filament polymerization Source: Ensembl
  8. regulation of excretion Source: Ensembl
  9. skeletal muscle tissue development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell adhesion, Myogenesis

Enzyme and pathway databases

ReactomeiREACT_23832. Nephrin interactions.
SignaLinkiO60500.

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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:7908. NPHS1.

Subcellular locationi

Cell membrane; Single-pass type I membrane protein Reviewed prediction
Note: Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 10551033Extracellular Reviewed prediction
Add
BLAST
Transmembranei1056 – 107621Helical; Reviewed prediction
Add
BLAST
Topological domaini1077 – 1241165Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. cell projection Source: Ensembl
  2. extracellular vesicular exosome Source: UniProt
  3. integral component of plasma membrane Source: ProtInc
  4. membrane raft Source: Ensembl
  5. plasma membrane Source: UniProtKB
  6. protein complex Source: Ensembl
  7. slit diaphragm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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.10 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti64 – 641W → S in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013029
Natural varianti96 – 961L → V in NPHS1. 1 Publication
VAR_064194
Natural varianti107 – 1071A → T in NPHS1. 1 Publication
VAR_064195
Natural varianti107 – 1071A → V in NPHS1. 1 Publication
VAR_064196
Natural varianti167 – 1671P → L in NPHS1. 1 Publication
VAR_064197
Natural varianti171 – 1711I → N in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013031
Natural varianti172 – 1721Missing in NPHS1. 3 Publications
VAR_013032
Natural varianti173 – 1731I → N in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013033
Natural varianti205 – 2073TPR → I in NPHS1.
VAR_013034
Natural varianti256 – 2561R → W in NPHS1. 1 Publication
VAR_064198
Natural varianti265 – 2651C → R in NPHS1. 1 Publication
VAR_064200
Natural varianti270 – 2701G → C in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013035
Natural varianti299 – 2991R → C in NPHS1. 1 Publication
VAR_064201
Natural varianti340 – 3401P → H in NPHS1. 1 Publication
VAR_064202
Natural varianti347 – 3471G → E in NPHS1. 1 Publication
VAR_064203
Natural varianti350 – 3501S → P in NPHS1; lack of protein expression on the cell surface. 4 Publications
VAR_013036
Natural varianti366 – 3661S → R in NPHS1; lack of protein expression on the cell surface; the mutant protein is retained in the endoplasmic reticulum. 4 Publications
VAR_013037
Natural varianti367 – 3671R → C in NPHS1; lack of protein expression on the cell surface. 5 Publications
VAR_013038
Natural varianti368 – 3681P → L in NPHS1. 1 Publication
VAR_064204
Natural varianti368 – 3681P → S in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013039
Natural varianti376 – 3761L → V in NPHS1; does not affect protein expression on the cell surface. 3 Publications
VAR_013040
Natural varianti379 – 3791R → W in NPHS1. 1 Publication
VAR_064205
Natural varianti407 – 4071R → W in NPHS1. 1 Publication
VAR_064206
Natural varianti408 – 4081R → Q in NPHS1; uncertain pathological significance; does not affect protein expression on the cell surface. 4 Publications
Corresponds to variant rs33950747 [ dbSNP | Ensembl ].
VAR_013041
Natural varianti412 – 4121G → C in NPHS1. 1 Publication
VAR_064207
Natural varianti417 – 4171C → F in NPHS1. 1 Publication
VAR_064208
Natural varianti460 – 4601R → Q in NPHS1. 3 Publications
VAR_064209
Natural varianti465 – 4651C → Y in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013043
Natural varianti519 – 5191P → S in NPHS1. 1 Publication
VAR_064210
Natural varianti528 – 5281C → F in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013044
Natural varianti558 – 5581R → C in NPHS1. 2 Publications
VAR_064211
Natural varianti569 – 5691S → R in NPHS1. 1 Publication
VAR_064212
Natural varianti572 – 5721S → N in NPHS1. 1 Publication
VAR_064213
Natural varianti575 – 5751P → Q in NPHS1. 1 Publication
VAR_064214
Natural varianti586 – 5861R → G in NPHS1. 1 Publication
VAR_064215
Natural varianti587 – 5871L → R in NPHS1. 1 Publication
VAR_064216
Natural varianti610 – 6101L → Q in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013045
Natural varianti623 – 6231C → F in NPHS1; lack of protein expression on the cell surface. 4 Publications
VAR_013046
Natural varianti673 – 6731N → K in NPHS1. 1 Publication
Corresponds to variant rs191807913 [ dbSNP | Ensembl ].
VAR_064218
Natural varianti681 – 6811W → C in NPHS1. 1 Publication
VAR_064219
Natural varianti709 – 7091V → G in NPHS1. 1 Publication
VAR_064220
Natural varianti724 – 7241S → C in NPHS1; does not affect protein expression on the cell surface. 3 Publications
VAR_013047
Natural varianti739 – 7391A → V in NPHS1. 1 Publication
VAR_064222
Natural varianti742 – 7421I → T in NPHS1. 1 Publication
VAR_067252
Natural varianti743 – 7431R → C in NPHS1; does not affect protein expression on the cell surface. 4 Publications
VAR_013048
Natural varianti802 – 8021R → P in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013050
Natural varianti802 – 8021R → W in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013049
Natural varianti806 – 8061A → D in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013051
Natural varianti819 – 8191D → V in NPHS1. 2 Publications
VAR_013052
Natural varianti822 – 8221V → M in NPHS1. 1 Publication
VAR_064223
Natural varianti831 – 8311R → C in NPHS1; lack of protein expression on the cell surface. 2 Publications
VAR_013053
Natural varianti832 – 8321L → P in NPHS1; the mutant protein is retained in the endoplasmic reticulum. 1 Publication
VAR_064224
Natural varianti834 – 8341V → F in NPHS1. 1 Publication
VAR_064225
Natural varianti910 – 9101S → P in NPHS1. 1 Publication
VAR_064227
Natural varianti976 – 9761R → S in NPHS1. 2 Publications
VAR_064228
Natural varianti1140 – 11401R → C in NPHS1; does not affect protein expression on the cell surface. 3 Publications
VAR_013055

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi256300. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222 Reviewed prediction
Add
BLAST
Chaini23 – 12411219Nephrin
PRO_0000015052Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi40 – 401N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi53 ↔ 111 Reviewed prediction
Disulfide bondi160 ↔ 217 Reviewed prediction
Disulfide bondi265 ↔ 317 Reviewed prediction
Glycosylationi356 – 3561N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi361 ↔ 417 Reviewed prediction
Glycosylationi401 – 4011N-linked (GlcNAc...) Reviewed prediction
Modified residuei432 – 4321Phosphoserine1 Publication
Disulfide bondi465 ↔ 528 Reviewed prediction
Glycosylationi547 – 5471N-linked (GlcNAc...) Reviewed prediction
Glycosylationi553 – 5531N-linked (GlcNAc...) Reviewed prediction
Glycosylationi564 – 5641N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi567 ↔ 623 Reviewed prediction
Glycosylationi577 – 5771N-linked (GlcNAc...) Reviewed prediction
Glycosylationi680 – 6801N-linked (GlcNAc...) Reviewed prediction
Glycosylationi708 – 7081N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi761 ↔ 816 Reviewed prediction
Disulfide bondi863 ↔ 920 Reviewed prediction
Glycosylationi908 – 9081N-linked (GlcNAc...) Reviewed prediction
Modified residuei1193 – 11931Phosphotyrosine; by FYN By similarity

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.
PRIDEiO60500.

PTM databases

PhosphoSiteiO60500.

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

BgeeiO60500.
CleanExiHS_NPHS1.
GenevestigatoriO60500.

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. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1 By similarity. Interacts with NPHS2.1 Publication

Binary interactionsi

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

Protein-protein interaction databases

BioGridi110928. 17 interactions.
IntActiO60500. 7 interactions.
STRINGi9606.ENSP00000368190.

Structurei

3D structure databases

ProteinModelPortaliO60500.
SMRiO60500. Positions 32-1022.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini27 – 130104Ig-like C2-type 1
Add
BLAST
Domaini143 – 23492Ig-like C2-type 2
Add
BLAST
Domaini242 – 33392Ig-like C2-type 3
Add
BLAST
Domaini340 – 43495Ig-like C2-type 4
Add
BLAST
Domaini440 – 540101Ig-like C2-type 5
Add
BLAST
Domaini544 – 63592Ig-like C2-type 6
Add
BLAST
Domaini740 – 83293Ig-like C2-type 7
Add
BLAST
Domaini838 – 939102Ig-like C2-type 8
Add
BLAST
Domaini943 – 103896Fibronectin type-III
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1160 – 124182Binds to NPHS2
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG251936.
HOGENOMiHOG000113844.
HOVERGENiHBG031752.
InParanoidiO60500.
OMAiNVNEGSQ.
OrthoDBiEOG7RBZ7J.
PhylomeDBiO60500.
TreeFamiTF327139.

Family and domain databases

Gene3Di2.60.40.10. 10 hits.
InterProiIPR013162. 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]
PfamiPF08205. C2-set_2. 5 hits.
PF00041. fn3. 1 hit.
PF07679. I-set. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 1 hit.
SM00409. IG. 5 hits.
SM00408. IGc2. 1 hit.
[Graphical view]
SUPFAMiSSF49265. 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. Align

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

MALGTTLRAS LLLLGLLTEG LAQLAIPASV PRGFWALPEN LTVVEGASVE     50
LRCGVSTPGS AVQWAKDGLL LGPDPRIPGF PRYRLEGDPA RGEFHLHIEA 100
CDLSDDAEYE CQVGRSEMGP ELVSPRVILS ILVPPKLLLL TPEAGTMVTW 150
VAGQEYVVNC VSGDAKPAPD ITILLSGQTI SDISANVNEG SQQKLFTVEA 200
TARVTPRSSD NRQLLVCEAS SPALEAPIKA SFTVNVLFPP GPPVIEWPGL 250
DEGHVRAGQS LELPCVARGG NPLATLQWLK NGQPVSTAWG TEHTQAVARS 300
VLVMTVRPED HGAQLSCEAH NSVSAGTQEH GITLQVTFPP SAIIILGSAS 350
QTENKNVTLS CVSKSSRPRV LLRWWLGWRQ LLPMEETVMD GLHGGHISMS 400
NLTFLARRED NGLTLTCEAF SEAFTKETFK KSLILNVKYP AQKLWIEGPP 450
EGQKLRAGTR VRLVCLAIGG NPEPSLMWYK DSRTVTESRL PQESRRVHLG 500
SVEKSGSTFS RELVLVTGPS DNQAKFTCKA GQLSASTQLA VQFPPTNVTI 550
LANASALRPG DALNLTCVSV SSNPPVNLSW DKEGERLEGV AAPPRRAPFK 600
GSAAARSVLL QVSSRDHGQR VTCRAHSAEL RETVSSFYRL NVLYRPEFLG 650
EQVLVVTAVE QGEALLPVSV SANPAPEAFN WTFRGYRLSP AGGPRHRILS 700
SGALHLWNVT RADDGLYQLH CQNSEGTAEA RLRLDVHYAP TIRALQDPTE 750
VNVGGSVDIV CTVDANPILP GMFNWERLGE DEEDQSLDDM EKISRGPTGR 800
LRIHHAKLAQ AGAYQCIVDN GVAPPARRLL RLVVRFAPQV EHPTPLTKVA 850
AAGDSTSSAT LHCRARGVPN IVFTWTKNGV PLDLQDPRYT EHTYHQGGVH 900
SSLLTIANVS AAQDYALFTC TATNALGSDQ TNIQLVSISR PDPPSGLKVV 950
SLTPHSVGLE WKPGFDGGLP QRFCIRYEAL GTPGFHYVDV VPPQATTFTL 1000
TGLQPSTRYR VWLLASNALG DSGLADKGTQ LPITTPGLHQ PSGEPEDQLP 1050
TEPPSGPSGL PLLPVLFALG GLLLLSNASC VGGVLWQRRL RRLAEGISEK 1100
TEAGSEEDRV RNEYEESQWT GERDTQSSTV STTEAEPYYR SLRDFSPQLP 1150
PTQEEVSYSR GFTGEDEDMA FPGHLYDEVE RTYPPSGAWG PLYDEVQMGP 1200
WDLHWPEDTY QDPRGIYDQV AGDLDTLEPD SLPFELRGHL V 1241
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti64 – 641W → S in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013029
Natural varianti96 – 961L → V in NPHS1. 1 Publication
VAR_064194
Natural varianti107 – 1071A → T in NPHS1. 1 Publication
VAR_064195
Natural varianti107 – 1071A → V in NPHS1. 1 Publication
VAR_064196
Natural varianti117 – 1171E → K.4 Publications
Corresponds to variant rs3814995 [ dbSNP | Ensembl ].
VAR_013030
Natural varianti167 – 1671P → L in NPHS1. 1 Publication
VAR_064197
Natural varianti171 – 1711I → N in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013031
Natural varianti172 – 1721Missing in NPHS1. 3 Publications
VAR_013032
Natural varianti173 – 1731I → N in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013033
Natural varianti205 – 2073TPR → I in NPHS1.
VAR_013034
Natural varianti233 – 2331T → A.
Corresponds to variant rs35238405 [ dbSNP | Ensembl ].
VAR_049970
Natural varianti256 – 2561R → W in NPHS1. 1 Publication
VAR_064198
Natural varianti264 – 2641P → R Found in patients with nephrotic syndrome; unknown pathological significance. 1 Publication
Corresponds to variant rs34982899 [ dbSNP | Ensembl ].
VAR_064199
Natural varianti265 – 2651C → R in NPHS1. 1 Publication
VAR_064200
Natural varianti270 – 2701G → C in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013035
Natural varianti299 – 2991R → C in NPHS1. 1 Publication
VAR_064201
Natural varianti340 – 3401P → H in NPHS1. 1 Publication
VAR_064202
Natural varianti347 – 3471G → E in NPHS1. 1 Publication
VAR_064203
Natural varianti350 – 3501S → P in NPHS1; lack of protein expression on the cell surface. 4 Publications
VAR_013036
Natural varianti366 – 3661S → R in NPHS1; lack of protein expression on the cell surface; the mutant protein is retained in the endoplasmic reticulum. 4 Publications
VAR_013037
Natural varianti367 – 3671R → C in NPHS1; lack of protein expression on the cell surface. 5 Publications
VAR_013038
Natural varianti368 – 3681P → L in NPHS1. 1 Publication
VAR_064204
Natural varianti368 – 3681P → S in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013039
Natural varianti376 – 3761L → V in NPHS1; does not affect protein expression on the cell surface. 3 Publications
VAR_013040
Natural varianti379 – 3791R → W in NPHS1. 1 Publication
VAR_064205
Natural varianti392 – 3921L → P.
Corresponds to variant rs34320609 [ dbSNP | Ensembl ].
VAR_049971
Natural varianti407 – 4071R → W in NPHS1. 1 Publication
VAR_064206
Natural varianti408 – 4081R → Q in NPHS1; uncertain pathological significance; does not affect protein expression on the cell surface. 4 Publications
Corresponds to variant rs33950747 [ dbSNP | Ensembl ].
VAR_013041
Natural varianti412 – 4121G → C in NPHS1. 1 Publication
VAR_064207
Natural varianti417 – 4171C → F in NPHS1. 1 Publication
VAR_064208
Natural varianti447 – 4471E → K.2 Publications
Corresponds to variant rs28939695 [ dbSNP | Ensembl ].
VAR_013042
Natural varianti460 – 4601R → Q in NPHS1. 3 Publications
VAR_064209
Natural varianti465 – 4651C → Y in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013043
Natural varianti519 – 5191P → S in NPHS1. 1 Publication
VAR_064210
Natural varianti528 – 5281C → F in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013044
Natural varianti558 – 5581R → C in NPHS1. 2 Publications
VAR_064211
Natural varianti569 – 5691S → R in NPHS1. 1 Publication
VAR_064212
Natural varianti572 – 5721S → N in NPHS1. 1 Publication
VAR_064213
Natural varianti575 – 5751P → Q in NPHS1. 1 Publication
VAR_064214
Natural varianti586 – 5861R → G in NPHS1. 1 Publication
VAR_064215
Natural varianti587 – 5871L → R in NPHS1. 1 Publication
VAR_064216
Natural varianti610 – 6101L → Q in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013045
Natural varianti617 – 6171H → R Found in patients with nephrotic syndrome; unknown pathological significance. 1 Publication
VAR_064217
Natural varianti623 – 6231C → F in NPHS1; lack of protein expression on the cell surface. 4 Publications
VAR_013046
Natural varianti673 – 6731N → K in NPHS1. 1 Publication
Corresponds to variant rs191807913 [ dbSNP | Ensembl ].
VAR_064218
Natural varianti681 – 6811W → C in NPHS1. 1 Publication
VAR_064219
Natural varianti709 – 7091V → G in NPHS1. 1 Publication
VAR_064220
Natural varianti724 – 7241S → C in NPHS1; does not affect protein expression on the cell surface. 3 Publications
VAR_013047
Natural varianti725 – 7251E → D Found in patients with nephrotic syndrome; unknown pathological significance. 1 Publication
VAR_064221
Natural varianti739 – 7391A → V in NPHS1. 1 Publication
VAR_064222
Natural varianti742 – 7421I → T in NPHS1. 1 Publication
VAR_067252
Natural varianti743 – 7431R → C in NPHS1; does not affect protein expression on the cell surface. 4 Publications
VAR_013048
Natural varianti802 – 8021R → P in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013050
Natural varianti802 – 8021R → W in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013049
Natural varianti806 – 8061A → D in NPHS1; lack of protein expression on the cell surface. 3 Publications
VAR_013051
Natural varianti819 – 8191D → V in NPHS1. 2 Publications
VAR_013052
Natural varianti822 – 8221V → M in NPHS1. 1 Publication
VAR_064223
Natural varianti831 – 8311R → C in NPHS1; lack of protein expression on the cell surface. 2 Publications
VAR_013053
Natural varianti832 – 8321L → P in NPHS1; the mutant protein is retained in the endoplasmic reticulum. 1 Publication
VAR_064224
Natural varianti834 – 8341V → F in NPHS1. 1 Publication
VAR_064225
Natural varianti851 – 8511A → V Found in patients with nephrotic syndrome; unknown pathological significance. 1 Publication
VAR_064226
Natural varianti910 – 9101S → P in NPHS1. 1 Publication
VAR_064227
Natural varianti976 – 9761R → S in NPHS1. 2 Publications
VAR_064228
Natural varianti991 – 9911V → L.
Corresponds to variant rs34736717 [ dbSNP | Ensembl ].
VAR_049972
Natural varianti1077 – 10771N → S.2 Publications
Corresponds to variant rs4806213 [ dbSNP | Ensembl ].
VAR_013054
Natural varianti1140 – 11401R → C in NPHS1; does not affect protein expression on the cell surface. 3 Publications
VAR_013055

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1056 – 109540Missing in isoform 2.
VSP_002598Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [O60500-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS32996.1. [O60500-1 ]
PIRi T37190.
RefSeqi NP_004637.1. NM_004646.3. [O60500-1 ]
UniGenei Hs.122186.

3D structure databases

ProteinModelPortali O60500.
SMRi O60500. Positions 32-1022.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110928. 17 interactions.
IntActi O60500. 7 interactions.
STRINGi 9606.ENSP00000368190.

PTM databases

PhosphoSitei O60500.

Proteomic databases

PaxDbi O60500.
PRIDEi O60500.

Protocols and materials databases

DNASUi 4868.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000353632 ; ENSP00000343634 ; ENSG00000161270 . [O60500-2 ]
ENST00000378910 ; ENSP00000368190 ; ENSG00000161270 . [O60500-1 ]
GeneIDi 4868.
KEGGi hsa:4868.
UCSCi uc002oby.3. human. [O60500-1 ]

Organism-specific databases

CTDi 4868.
GeneCardsi GC19M036316.
HGNCi HGNC:7908. NPHS1.
HPAi CAB035555.
MIMi 256300. phenotype.
602716. gene.
neXtProti NX_O60500.
Orphaneti 839. 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.
PharmGKBi PA31709.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG251936.
HOGENOMi HOG000113844.
HOVERGENi HBG031752.
InParanoidi O60500.
OMAi NVNEGSQ.
OrthoDBi EOG7RBZ7J.
PhylomeDBi O60500.
TreeFami TF327139.

Enzyme and pathway databases

Reactomei REACT_23832. Nephrin interactions.
SignaLinki O60500.

Miscellaneous databases

GeneWikii Nephrin.
GenomeRNAii 4868.
NextBioi 18748.
PROi O60500.
SOURCEi Search...

Gene expression databases

Bgeei O60500.
CleanExi HS_NPHS1.
Genevestigatori O60500.

Family and domain databases

Gene3Di 2.60.40.10. 10 hits.
InterProi IPR013162. 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 ]
Pfami PF08205. C2-set_2. 5 hits.
PF00041. fn3. 1 hit.
PF07679. I-set. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view ]
SMARTi SM00060. FN3. 1 hit.
SM00409. IG. 5 hits.
SM00408. IGc2. 1 hit.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 1 hit.
PROSITEi PS50853. FN3. 1 hit.
PS50835. IG_LIKE. 7 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. 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. Cited for: VARIANTS NPHS1 ARG-265 AND MET-822.
  14. 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. 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.

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: September 3, 2014
This is version 137 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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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