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Protein

Nephrin

Gene

Nphs1

Organism
Mus musculus (Mouse)
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.3 Publications

GO - Molecular functioni

GO - Biological processi

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

Keywordsi

Molecular functionDevelopmental protein
Biological processCell adhesion, Myogenesis

Enzyme and pathway databases

ReactomeiR-MMU-373753 Nephrin family interactions

Names & Taxonomyi

Protein namesi
Recommended name:
Nephrin
Alternative name(s):
Renal glomerulus-specific cell adhesion receptor
Gene namesi
Name:Nphs1
Synonyms:Nphn
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 7

Organism-specific databases

MGIiMGI:1859637 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 – 1256CytoplasmicSequence analysisAdd BLAST157

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Disruption phenotypei

Death by postnatal day 2 associated with proteinuria, edema and massive glomerular vascular leak. Kidneys display enlarged Bowman's spaces, dilated tubuli, effacement of podocyte foot processes and an absence of the glomerular epithelial slit diaphragm. Impaired skeletal muscle development characterized by incomplete myoblast fusion.3 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 35Sequence analysisAdd BLAST35
ChainiPRO_000001505336 – 1256NephrinAdd BLAST1221

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
Glycosylationi415N-linked (GlcNAc...) asparagineSequence analysis1
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 residuei1112PhosphoserineBy similarity1
Modified residuei1115PhosphothreonineBy similarity1
Modified residuei1119PhosphoserineBy similarity1
Modified residuei1208Phosphotyrosine; by FYNBy similarity1

Post-translational modificationi

Phosphorylated at Tyr-1208 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9QZS7
PRIDEiQ9QZS7

PTM databases

iPTMnetiQ9QZS7
PhosphoSitePlusiQ9QZS7

Expressioni

Tissue specificityi

Expressed in kidney glomeruli. In the embryo, expressed in the mesonephric kidney at E11 with strong expression in cranial tubules with podocyte-like structures. Expression is observed in the podocytes of the developing kidney from E13. High expression is also detected in the developing cerebellum, hindbrain, spinal cord, retina and hypothalamus. Expressed in skeletal muscle during myoblast fusion such as in the adult following acute injury and in the embryo but not detected in uninjured adult skeletal muscle. Isoform 1 and isoform 2 are expressed in the newborn brain and developing cerebellum. Isoform 1 is the predominant isoform in adult kidney.5 Publications

Gene expression databases

BgeeiENSMUSG00000006649 Expressed in 42 organ(s), highest expression level in glomerular tuft
CleanExiMM_NPHS1
ExpressionAtlasiQ9QZS7 baseline and differential
GenevisibleiQ9QZS7 MM

Interactioni

Subunit structurei

Interacts with NPHS2 and with CD2AP (via C-terminal domain). Interacts with MAGI1 (via PDZ 2 and 3 domains) forming a tripartite complex with IGSF5/JAM4. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1 (By similarity). Interacts with DDN; the interaction is direct. Self-associates (via the Ig-like domains). Also interacts (via the Ig-like domains) with KIRREL1 and KIRREL2; the interaction with KIRREL1 is dependent on KIRREL1 glycosylation. Interacts with KIRREL3 (PubMed:15843475, PubMed:18752272).By similarity8 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi207694, 2 interactors
CORUMiQ9QZS7
DIPiDIP-61265N
IntActiQ9QZS7, 3 interactors
STRINGi10090.ENSMUSP00000006825

Structurei

3D structure databases

ProteinModelPortaliQ9QZS7
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 – 1051Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST95

Sequence similaritiesi

Belongs to the immunoglobulin superfamily.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3515 Eukaryota
ENOG410XRJN LUCA
GeneTreeiENSGT00550000074545
HOVERGENiHBG031752
InParanoidiQ9QZS7
OMAiYSVGLEW
OrthoDBiEOG091G00UN
PhylomeDBiQ9QZS7
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
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, 5 hits
PF00041 fn3, 1 hit
SMARTiView protein in SMART
SM00060 FN3, 1 hit
SM00409 IG, 8 hits
SM00408 IGc2, 6 hits
SUPFAMiSSF48726 SSF48726, 9 hits
SSF49265 SSF49265, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit
PS50835 IG_LIKE, 8 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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9QZS7-1) [UniParc]FASTAAdd to basket
Also known as: NephrinA

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
MGAKEATVRG PGASPVHRTC HLIPLLLAGM LTTGLAQSPV PTSAPRGFWA
60 70 80 90 100
LSENLTVVEG STVKLWCGVR APGSVVQWAK DGLLLGPNPK IPGFPRYSLE
110 120 130 140 150
GDSAKGEFHL LIEACDLSDD AEYECQVGRS ELGPELVSPS VILSILVSPK
160 170 180 190 200
VLQLTPEAGS TVTWVAGQEY VVTCVSGDAK PAPDIIFIQG GRTVEDVSSS
210 220 230 240 250
VNEGSEEKLF FTEAEARVTP QSSDNGQLLV CEGSNPALAT PIKASFTMNI
260 270 280 290 300
LFPPGPPVID WPGLNEGHVR AGENLELPCI ARGGNPPATL QWLKNGKPVS
310 320 330 340 350
IAWGTEHAQA VAHSVLVMTV RPEDHGARLS CQSYNSVSAE TQERSITLQV
360 370 380 390 400
TFPPSAVTIL GSTSQSENKN VTLCCLTKSS RPRVLLRWWL GGRQLLPTDE
410 420 430 440 450
TVMDGLHGGH ISMSNLTLLV KREDNGLSLT CEAFSDAFSK ETFKKSLTLN
460 470 480 490 500
VKYPAQKLWI EGPPEGQSIR TGTRVRLVCL AIGGNPEPSL TWLKDSRPVN
510 520 530 540 550
DPRQSQEPRR VQLGSVEKSG STFSRELVLI IGPPDNLAKF SCKAGQLSAS
560 570 580 590 600
TQLVVQFPPT NLTILANSSA LRPGDALNLT CVSISSNPPV NLSLDKEGER
610 620 630 640 650
LDDVAAKPQS APFKGSAASR SVFLRVSSRD HGHRVTCRAH SEALRETVSS
660 670 680 690 700
FYRLNVLYPP EFLGEQVRAV TVVEQGQALL PVSVSANPAP EAFNWTFRGY
710 720 730 740 750
RLSPAGGPRH RILSGGALQL WNVTRADDGF YQLHCQNSEG TAEALLKLDV
760 770 780 790 800
HYAPTIRALK DPTEVNVGGS VDIVCTVDAN PILPEMFSWE RLGEDEEELN
810 820 830 840 850
LDDMEKMSKG STGRLRIRQA KLSQAGAYQC IVDNGVAPAA RGLVRLVVRF
860 870 880 890 900
APQVDHPTPL TKVAAAGDST SSATLHCRAR GVPNIDFTWT KNGVPLDLQD
910 920 930 940 950
PRYTEHKYHQ GVVHSSLLTI ANVSAAQDYA LFKCTATNAL GSDHTNIQLV
960 970 980 990 1000
SISRPDPPLG LKVVSVSPHS VGLEWKPGFD GGLPQRFQIR YEALESPGFL
1010 1020 1030 1040 1050
YMDVLPAQAT TFTLTGLKPS TRYRIWLLAS NALGDSGLTD KGIQVSITTP
1060 1070 1080 1090 1100
GLDQAPEDTD QPLPTEQPPG PPRLPLLPVL FAVGGLLLLS NASCVGGLLW
1110 1120 1130 1140 1150
RRRLRRLAEE ISEKTEAGSE EDRIRNEYEE SQWTGDRDTR SSTVSTAEVD
1160 1170 1180 1190 1200
PHYYSMRDFS PQLPPTLEEV SYRQAFTGIE DEDMAFPGHL YDEVERVYGP
1210 1220 1230 1240 1250
PGVWGPLYDE VQMDPYDLRW PEVKYEDPRG IYDQVAADMD AGEPGSLPFE

LRGHLV
Length:1,256
Mass (Da):136,336
Last modified:March 8, 2011 - v2
Checksum:i339A670F2AF000A2
GO
Isoform 2 (identifier: Q9QZS7-2) [UniParc]FASTAAdd to basket
Also known as: NephrinB

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: MGAKEATVRGPGASPVHRTCHLIPLLLAGMLTT → MEKWRAWDPQSIQRRKTAK

Show »
Length:1,242
Mass (Da):135,352
Checksum:i5DA81EAA712A3EBB
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F6RCI4F6RCI4_MOUSE
Nephrin
Nphs1
72Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1 – 24MGAKE…CHLIP → MALGTTLRAS in AAF03368 (PubMed:10504499).CuratedAdd BLAST24
Sequence conflicti6A → V in AAF91087 (PubMed:10820162).Curated1
Sequence conflicti21H → R in AAF91087 (PubMed:10820162).Curated1
Sequence conflicti43S → P in AAF91085 (PubMed:10820162).Curated1
Sequence conflicti43S → P in AAG17142 (PubMed:12039968).Curated1
Sequence conflicti43S → P in AAK38483 (PubMed:12039968).Curated1
Sequence conflicti43S → P in BAI63574 (PubMed:19887377).Curated1
Sequence conflicti63V → I in AAF03368 (PubMed:10504499).Curated1
Sequence conflicti63V → I in AAF91087 (PubMed:10820162).Curated1
Sequence conflicti140S → R in AAF03368 (PubMed:10504499).Curated1
Sequence conflicti140S → R in AAF91087 (PubMed:10820162).Curated1
Sequence conflicti145I → V in AAF03368 (PubMed:10504499).Curated1
Sequence conflicti145I → V in AAF91087 (PubMed:10820162).Curated1
Sequence conflicti148S → P in AAF03368 (PubMed:10504499).Curated1
Sequence conflicti148S → P in AAF91087 (PubMed:10820162).Curated1
Sequence conflicti178D → G in AAF03368 (PubMed:10504499).Curated1
Sequence conflicti178D → G in AAF91087 (PubMed:10820162).Curated1
Sequence conflicti763T → A in AAF03368 (PubMed:10504499).Curated1
Sequence conflicti996S → T in AAF03368 (PubMed:10504499).Curated1
Sequence conflicti996S → T in AAF91087 (PubMed:10820162).Curated1
Sequence conflicti1076L → Q in AAF03368 (PubMed:10504499).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0406761 – 33MGAKE…GMLTT → MEKWRAWDPQSIQRRKTAK in isoform 2. 1 PublicationAdd BLAST33

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF168466 mRNA Translation: AAF03368.1
AF172254
, AF172247, AF172248, AF172249, AF172250, AF172251, AF172252, AF172253 Genomic DNA Translation: AAF91085.1
AF172256 mRNA Translation: AAF91087.1
AF190638 Genomic DNA Translation: AAG17142.1
AF191090 mRNA Translation: AAK38483.1
AB513652 mRNA Translation: BAI63574.1
AC167970 mRNA No translation available.
AY183460 Genomic DNA Translation: AAO22850.1
CCDSiCCDS39884.1 [Q9QZS7-1]
RefSeqiNP_062332.2, NM_019459.2 [Q9QZS7-1]
XP_011248949.1, XM_011250647.1 [Q9QZS7-2]
UniGeneiMm.437830

Genome annotation databases

EnsembliENSMUST00000006825; ENSMUSP00000006825; ENSMUSG00000006649 [Q9QZS7-1]
ENSMUST00000126297; ENSMUSP00000116500; ENSMUSG00000006649 [Q9QZS7-2]
GeneIDi54631
KEGGimmu:54631
UCSCiuc009gem.1 mouse [Q9QZS7-2]
uc009gen.1 mouse [Q9QZS7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF168466 mRNA Translation: AAF03368.1
AF172254
, AF172247, AF172248, AF172249, AF172250, AF172251, AF172252, AF172253 Genomic DNA Translation: AAF91085.1
AF172256 mRNA Translation: AAF91087.1
AF190638 Genomic DNA Translation: AAG17142.1
AF191090 mRNA Translation: AAK38483.1
AB513652 mRNA Translation: BAI63574.1
AC167970 mRNA No translation available.
AY183460 Genomic DNA Translation: AAO22850.1
CCDSiCCDS39884.1 [Q9QZS7-1]
RefSeqiNP_062332.2, NM_019459.2 [Q9QZS7-1]
XP_011248949.1, XM_011250647.1 [Q9QZS7-2]
UniGeneiMm.437830

3D structure databases

ProteinModelPortaliQ9QZS7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi207694, 2 interactors
CORUMiQ9QZS7
DIPiDIP-61265N
IntActiQ9QZS7, 3 interactors
STRINGi10090.ENSMUSP00000006825

PTM databases

iPTMnetiQ9QZS7
PhosphoSitePlusiQ9QZS7

Proteomic databases

PaxDbiQ9QZS7
PRIDEiQ9QZS7

Protocols and materials databases

DNASUi54631
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000006825; ENSMUSP00000006825; ENSMUSG00000006649 [Q9QZS7-1]
ENSMUST00000126297; ENSMUSP00000116500; ENSMUSG00000006649 [Q9QZS7-2]
GeneIDi54631
KEGGimmu:54631
UCSCiuc009gem.1 mouse [Q9QZS7-2]
uc009gen.1 mouse [Q9QZS7-1]

Organism-specific databases

CTDi4868
MGIiMGI:1859637 Nphs1

Phylogenomic databases

eggNOGiKOG3515 Eukaryota
ENOG410XRJN LUCA
GeneTreeiENSGT00550000074545
HOVERGENiHBG031752
InParanoidiQ9QZS7
OMAiYSVGLEW
OrthoDBiEOG091G00UN
PhylomeDBiQ9QZS7
TreeFamiTF327139

Enzyme and pathway databases

ReactomeiR-MMU-373753 Nephrin family interactions

Miscellaneous databases

PROiPR:Q9QZS7
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000006649 Expressed in 42 organ(s), highest expression level in glomerular tuft
CleanExiMM_NPHS1
ExpressionAtlasiQ9QZS7 baseline and differential
GenevisibleiQ9QZS7 MM

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, 5 hits
PF00041 fn3, 1 hit
SMARTiView protein in SMART
SM00060 FN3, 1 hit
SM00409 IG, 8 hits
SM00408 IGc2, 6 hits
SUPFAMiSSF48726 SSF48726, 9 hits
SSF49265 SSF49265, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit
PS50835 IG_LIKE, 8 hits
ProtoNetiSearch...

Entry informationi

Entry nameiNPHN_MOUSE
AccessioniPrimary (citable) accession number: Q9QZS7
Secondary accession number(s): D2KXA7
, Q811S5, Q925S5, Q9ESC6, Q9ET59, Q9JIX1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: March 8, 2011
Last modified: November 7, 2018
This is version 151 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
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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