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Protein

Nephrin

Gene

Nphs1

Organism
Rattus norvegicus (Rat)
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.2 Publications

GO - Molecular functioni

  • alpha-actinin binding Source: RGD
  • protein domain specific binding Source: RGD
  • spectrin binding Source: RGD

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • glomerular filtration Source: UniProtKB
  • muscle organ development Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell adhesion, Myogenesis

Enzyme and pathway databases

ReactomeiR-RNO-373753. Nephrin interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Nephrin
Alternative name(s):
Renal glomerulus-specific cell adhesion receptor
Gene namesi
Name:Nphs1
Synonyms:Nphn
OrganismiRattus norvegicus (Rat)
Taxonomic identifieri10116 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeRattus
Proteomesi
  • UP000002494 Componenti: Unplaced

Organism-specific databases

RGDi620460. Nphs1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini36 – 10781043ExtracellularSequence analysisAdd
BLAST
Transmembranei1079 – 109921HelicalSequence analysisAdd
BLAST
Topological domaini1100 – 1252153CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: RGD
  • membrane raft Source: RGD
  • plasma membrane Source: UniProtKB
  • protein complex Source: RGD
  • slit diaphragm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3535Sequence analysisAdd
BLAST
Chaini36 – 12521217NephrinPRO_0000015054Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi54 – 541N-linked (GlcNAc...)Sequence analysis
Disulfide bondi67 ↔ 125PROSITE-ProRule annotation
Disulfide bondi174 ↔ 231PROSITE-ProRule annotation
Disulfide bondi279 ↔ 331PROSITE-ProRule annotation
Glycosylationi370 – 3701N-linked (GlcNAc...)Sequence analysis
Disulfide bondi375 ↔ 431PROSITE-ProRule annotation
Modified residuei446 – 4461PhosphoserineBy similarity
Disulfide bondi479 ↔ 542PROSITE-ProRule annotation
Glycosylationi561 – 5611N-linked (GlcNAc...)Sequence analysis
Glycosylationi578 – 5781N-linked (GlcNAc...)Sequence analysis
Disulfide bondi581 ↔ 637PROSITE-ProRule annotation
Glycosylationi591 – 5911N-linked (GlcNAc...)Sequence analysis
Glycosylationi722 – 7221N-linked (GlcNAc...)Sequence analysis
Disulfide bondi775 ↔ 830PROSITE-ProRule annotation
Disulfide bondi877 ↔ 934PROSITE-ProRule annotation
Modified residuei1112 – 11121PhosphoserineCombined sources
Modified residuei1115 – 11151PhosphothreonineCombined sources
Modified residuei1119 – 11191PhosphoserineCombined sources
Modified residuei1204 – 12041Phosphotyrosine; by FYN1 Publication

Post-translational modificationi

Phosphorylated at Tyr-1204 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9R044.
PRIDEiQ9R044.

PTM databases

iPTMnetiQ9R044.
PhosphoSiteiQ9R044.

Expressioni

Tissue specificityi

Strongly expressed in the podocytes of kidney glomeruli (at protein level) and at lower levels in the spleen.2 Publications

Inductioni

Following injection with puromycin which induces nephrosis, down-regulated by 40% 3 days post-injection and by 80% at day 10. Also down-regulated by HgCl2 with rapid decrease at day 3.1 Publication

Gene expression databases

BgeeiENSRNOG00000020873.

Interactioni

Subunit structurei

Interacts with NPHS2 and with CD2AP (via C-terminal domain). 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 (By similarity). Interacts with MAGI1 (via PDZ 2 and 3 domains) forming a tripartite complex with IGSF5/JAM4. Interacts with DDN; the interaction is direct. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1.By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
SirpaP977102EBI-7945021,EBI-7945080

GO - Molecular functioni

  • alpha-actinin binding Source: RGD
  • protein domain specific binding Source: RGD
  • spectrin binding Source: RGD

Protein-protein interaction databases

BioGridi249144. 8 interactions.
IntActiQ9R044. 1 interaction.
MINTiMINT-8384233.
STRINGi10116.ENSRNOP00000049922.

Structurei

3D structure databases

ProteinModelPortaliQ9R044.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini39 – 144106Ig-like C2-type 1Add
BLAST
Domaini149 – 24799Ig-like C2-type 2Add
BLAST
Domaini256 – 34792Ig-like C2-type 3Add
BLAST
Domaini354 – 44895Ig-like C2-type 4Add
BLAST
Domaini454 – 554101Ig-like C2-type 5Add
BLAST
Domaini558 – 64992Ig-like C2-type 6Add
BLAST
Domaini754 – 84693Ig-like C2-type 7Add
BLAST
Domaini852 – 953102Ig-like C2-type 8Add
BLAST
Domaini957 – 105296Fibronectin type-IIIPROSITE-ProRule annotationAdd
BLAST

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.
HOGENOMiHOG000113844.
HOVERGENiHBG031752.
InParanoidiQ9R044.
PhylomeDBiQ9R044.

Family and domain databases

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.
[Graphical view]
PfamiPF08205. C2-set_2. 5 hits.
PF00041. fn3. 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 (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: Q9R044-1) [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
MGAKRVTVRG ARTSPIHRMS SLTPLLLMGM LTSGLAESPV PTSAPRGFWA
60 70 80 90 100
LSENLTAVEG TTVKLWCGVR APGSVVQWAK DGLLLGPNPK MPGFPRYSLE
110 120 130 140 150
GDRAKGEFHL LIEACDLSDD AEYECQVGRS ELGPELVSPK VILSILVSPK
160 170 180 190 200
VLLLTPEAGS TVTWVAGQEY VVTCVSGDAK PAPDITFIQS GRTILDVSSN
210 220 230 240 250
VNEGSEEKLC ITEAEARVIP QSSDNGQLLV CEGSNPALDT PIKASFTMNI
260 270 280 290 300
LFPPGPPVID WPGLNEGHVR AGENLELPCT ARGGNPPATL QWLKNGKPVS
310 320 330 340 350
TAWGTEHAQA VAHSVLVMTV RPEDHGARLS CQSYNSVSAG TQERSITLQV
360 370 380 390 400
TFPPSAITIL GSVSQSENKN VTLCCLTKSS RPRVLLRWWL GGRQLLPTDE
410 420 430 440 450
TVMDGLHGGH ISMSNLTFLV RREDNGLPLT CEAFSDAFSK ETFKKSLTLN
460 470 480 490 500
VKYPAQKLWI EGPPEGQYIR TGTRVRLVCL AIGGNPDPSL IWFKDSRPVS
510 520 530 540 550
EPRQPQEPRR VQLGSVEKSG STFSRELVLI IGPPDNRAKF SCKAGQLSAS
560 570 580 590 600
TQLVVQFPPT NLTILANSSA LRPGDALNLT CVSISSNPPV NLSWDKEGER
610 620 630 640 650
LEDVAAKPQS APFKGSAASR SVFLRVSSRD HGQRVTCRAH SEALRETVSS
660 670 680 690 700
FYRFNVLYPP EFLGEQVRAV TVVEQGQVLL PVSVSANPAP EAFNWTFRGY
710 720 730 740 750
RLSPAGGPRH RILSGGALQL WNVTRADDGF YQLHCQNSEG TAEALLKLDV
760 770 780 790 800
HYAPTIRALR DPTEVNVGGS VDIVCTVDAN PILPEMFSWE RLGEEEEDLN
810 820 830 840 850
LDDMEKVSKG STGRLRIRQA KLSQAGAYQC IVDNGVAPAA RGLVRLVVRF
860 870 880 890 900
APQVDQPTPL TKVAAAGDST SSATLHCRAR GVPNIDFTWT KNGVPLDLQD
910 920 930 940 950
PRYTEHRYHQ GVVHSSLLTI ANVSAAQDYA LFKCTATNAL GSDHTNIQLV
960 970 980 990 1000
SISRPDPPLG LKVVSISPHS VGLEWKPGFD GGLPQRFQIR YEALETPGFL
1010 1020 1030 1040 1050
HVDVLPTQAT TFTLTGLKPS TRYRIWLLAS NALGDSGLTD KGIQVSVTTP
1060 1070 1080 1090 1100
GPDQAPEDTD HQLPTELPPG PPRLPLLPVL FAVGGLLLLS NASCVGGLLW
1110 1120 1130 1140 1150
RRRLRRLAEE ISEKTEAGSE DRIRNEYEES QWTGDRDTRS STVSTAEVDP
1160 1170 1180 1190 1200
NYYSMRDFSP QLPPTLEEVL YHQGAEGEDM AFPGHLHDEV ERAYGPPGAW
1210 1220 1230 1240 1250
GPLYDEVRMD PYDLRWPEVQ CEDPRGIYDQ VAADMDAVEA SSLPFELRGH

LV
Length:1,252
Mass (Da):136,281
Last modified:March 8, 2011 - v2
Checksum:i6A3550AB907883EC
GO
Isoform 2 (identifier: Q9R044-2) [UniParc]FASTAAdd to basket
Also known as: Alpha

The sequence of this isoform differs from the canonical sequence as follows:
     1070-1082: Missing.

Show »
Length:1,239
Mass (Da):134,910
Checksum:i8127731D79F1F183
GO
Isoform 3 (identifier: Q9R044-3) [UniParc]FASTAAdd to basket
Also known as: Beta

The sequence of this isoform differs from the canonical sequence as follows:
     1070-1155: Missing.

Show »
Length:1,166
Mass (Da):126,646
Checksum:iC22AF65387FAD4B5
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti19 – 191M → T in AAF14884 (PubMed:10792613).Curated
Sequence conflicti46 – 461R → Q in AAF14884 (PubMed:10792613).Curated
Sequence conflicti1229 – 12291D → N in AAF12734 (PubMed:10487848).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1070 – 115586Missing in isoform 3. 1 PublicationVSP_002600Add
BLAST
Alternative sequencei1070 – 108213Missing in isoform 2. 1 PublicationVSP_002599Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF172255 mRNA. Translation: AAF91086.1.
AF161715 mRNA. Translation: AAF14884.1.
AF125521 mRNA. Translation: AAF12734.1.
RefSeqiNP_072150.1. NM_022628.1.
UniGeneiRn.48745.

Genome annotation databases

GeneIDi64563.
KEGGirno:64563.
UCSCiRGD:620460. rat. [Q9R044-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF172255 mRNA. Translation: AAF91086.1.
AF161715 mRNA. Translation: AAF14884.1.
AF125521 mRNA. Translation: AAF12734.1.
RefSeqiNP_072150.1. NM_022628.1.
UniGeneiRn.48745.

3D structure databases

ProteinModelPortaliQ9R044.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi249144. 8 interactions.
IntActiQ9R044. 1 interaction.
MINTiMINT-8384233.
STRINGi10116.ENSRNOP00000049922.

PTM databases

iPTMnetiQ9R044.
PhosphoSiteiQ9R044.

Proteomic databases

PaxDbiQ9R044.
PRIDEiQ9R044.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi64563.
KEGGirno:64563.
UCSCiRGD:620460. rat. [Q9R044-1]

Organism-specific databases

CTDi4868.
RGDi620460. Nphs1.

Phylogenomic databases

eggNOGiKOG3515. Eukaryota.
ENOG410XRJN. LUCA.
HOGENOMiHOG000113844.
HOVERGENiHBG031752.
InParanoidiQ9R044.
PhylomeDBiQ9R044.

Enzyme and pathway databases

ReactomeiR-RNO-373753. Nephrin interactions.

Miscellaneous databases

PROiQ9R044.

Gene expression databases

BgeeiENSRNOG00000020873.

Family and domain databases

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.
[Graphical view]
PfamiPF08205. C2-set_2. 5 hits.
PF00041. fn3. 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_RAT
AccessioniPrimary (citable) accession number: Q9R044
Secondary accession number(s): Q9JIX2, Q9QXX7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: March 8, 2011
Last modified: September 7, 2016
This is version 137 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. 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.