Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Nephrin

Gene

Nphs1

Organism
Rattus norvegicus (Rat)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionDevelopmental protein
Biological processCell adhesion, Myogenesis

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeRattus
Proteomesi
  • UP000002494 Componenti: Unplaced

Organism-specific databases

RGDi620460 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 domaini36 – 1078ExtracellularSequence analysisAdd BLAST1043
Transmembranei1079 – 1099HelicalSequence analysisAdd BLAST21
Topological domaini1100 – 1252CytoplasmicSequence analysisAdd BLAST153

Keywords - Cellular componenti

Cell membrane, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 35Sequence analysisAdd BLAST35
ChainiPRO_000001505436 – 1252NephrinAdd BLAST1217

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi54N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi67 ↔ 125PROSITE-ProRule annotation
Disulfide bondi174 ↔ 231PROSITE-ProRule annotation
Disulfide bondi279 ↔ 331PROSITE-ProRule annotation
Glycosylationi370N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi375 ↔ 431PROSITE-ProRule annotation
Modified residuei446PhosphoserineBy similarity1
Disulfide bondi479 ↔ 542PROSITE-ProRule annotation
Glycosylationi561N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi578N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi581 ↔ 637PROSITE-ProRule annotation
Glycosylationi591N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi722N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi775 ↔ 830PROSITE-ProRule annotation
Disulfide bondi877 ↔ 934PROSITE-ProRule annotation
Modified residuei1112PhosphoserineCombined sources1
Modified residuei1115PhosphothreonineCombined sources1
Modified residuei1119PhosphoserineCombined sources1
Modified residuei1204Phosphotyrosine; by FYN1 Publication1

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
PhosphoSitePlusiQ9R044

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

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 KIRREL1/NEPH1 and KIRREL2; the interaction with KIRREL1 is dependent on KIRREL1 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

Protein-protein interaction databases

BioGridi249144, 8 interactors
CORUMiQ9R044
IntActiQ9R044, 1 interactor
MINTiQ9R044
STRINGi10116.ENSRNOP00000049922

Structurei

3D structure databases

ProteinModelPortaliQ9R044
SMRiQ9R044
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini39 – 144Ig-like C2-type 1Add BLAST106
Domaini149 – 247Ig-like C2-type 2Add BLAST99
Domaini256 – 347Ig-like C2-type 3Add BLAST92
Domaini354 – 448Ig-like C2-type 4Add BLAST95
Domaini454 – 554Ig-like C2-type 5Add BLAST101
Domaini558 – 649Ig-like C2-type 6Add BLAST92
Domaini754 – 846Ig-like C2-type 7Add BLAST93
Domaini852 – 953Ig-like C2-type 8Add BLAST102
Domaini957 – 1052Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST96

Sequence similaritiesi

Belongs to the immunoglobulin superfamily.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3515 Eukaryota
ENOG410XRJN LUCA
HOGENOMiHOG000113844
HOVERGENiHBG031752
InParanoidiQ9R044
PhylomeDBiQ9R044

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
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR003598 Ig_sub2
PfamiView protein in Pfam
PF08205 C2-set_2, 4 hits
PF00041 fn3, 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 (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.

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A140TAG4A0A140TAG4_RAT
Nephrin
Nphs1
1,252Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti19M → T in AAF14884 (PubMed:10792613).Curated1
Sequence conflicti46R → Q in AAF14884 (PubMed:10792613).Curated1
Sequence conflicti1229D → N in AAF12734 (PubMed:10487848).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0026001070 – 1155Missing in isoform 3. 1 PublicationAdd BLAST86
Alternative sequenceiVSP_0025991070 – 1082Missing in isoform 2. 1 PublicationAdd BLAST13

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

Similar proteinsi

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
SMRiQ9R044
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi249144, 8 interactors
CORUMiQ9R044
IntActiQ9R044, 1 interactor
MINTiQ9R044
STRINGi10116.ENSRNOP00000049922

PTM databases

iPTMnetiQ9R044
PhosphoSitePlusiQ9R044

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

Miscellaneous databases

PROiPR:Q9R044

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
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR003598 Ig_sub2
PfamiView protein in Pfam
PF08205 C2-set_2, 4 hits
PF00041 fn3, 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
ProtoNetiSearch...

Entry informationi

Entry nameiNPHN_RAT
AccessioniPrimary (citable) accession number: Q9R044
Secondary accession number(s): Q9JIX2, Q9QXX7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: March 8, 2011
Last modified: June 20, 2018
This is version 150 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again