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Q9QZS7

- NPHN_MOUSE

UniProt

Q9QZS7 - NPHN_MOUSE

Protein

Nephrin

Gene

Nphs1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 2 (08 Mar 2011)
      Previous versions | rss
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    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

    1. protein binding Source: MGI

    GO - Biological processi

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

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Cell adhesion, Myogenesis

    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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 7

    Organism-specific databases

    MGIiMGI:1859637. Nphs1.

    Subcellular locationi

    Cell membrane Curated; Single-pass type I membrane protein Curated
    Note: Located at podocyte slit diaphragm between podocyte foot processes.1 Publication

    GO - Cellular componenti

    1. cell projection Source: UniProtKB
    2. integral component of membrane Source: MGI
    3. integral component of plasma membrane Source: MGI
    4. membrane raft Source: Ensembl
    5. plasma membrane Source: UniProtKB
    6. protein complex Source: Ensembl
    7. slit diaphragm Source: UniProtKB

    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)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3535Sequence AnalysisAdd
    BLAST
    Chaini36 – 12561221NephrinPRO_0000015053Add
    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
    Glycosylationi415 – 4151N-linked (GlcNAc...)Sequence Analysis
    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 residuei1208 – 12081Phosphotyrosine; by FYNBy similarity

    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

    PhosphoSiteiQ9QZS7.

    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

    ArrayExpressiQ9QZS7.
    BgeeiQ9QZS7.
    CleanExiMM_NPHS1.
    GenevestigatoriQ9QZS7.

    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 KIRREL/NEPH1 and KIRREL2; the interaction with KIRREL is dependent on KIRREL glycosylation.By similarity6 Publications

    Protein-protein interaction databases

    BioGridi207694. 1 interaction.
    STRINGi10090.ENSMUSP00000006825.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9QZS7.
    SMRiQ9QZS7. Positions 47-1036.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini36 – 10781043ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1100 – 1256157CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1079 – 109921HelicalSequence AnalysisAdd
    BLAST

    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 – 105195Fibronectin 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

    eggNOGiNOG251936.
    GeneTreeiENSGT00550000074545.
    HOVERGENiHBG031752.
    InParanoidiQ9ET59.
    OMAiNVNEGSQ.
    OrthoDBiEOG7RBZ7J.
    PhylomeDBiQ9QZS7.
    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. 2 hits.
    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. 8 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: 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

    MGAKEATVRG PGASPVHRTC HLIPLLLAGM LTTGLAQSPV PTSAPRGFWA     50
    LSENLTVVEG STVKLWCGVR APGSVVQWAK DGLLLGPNPK IPGFPRYSLE 100
    GDSAKGEFHL LIEACDLSDD AEYECQVGRS ELGPELVSPS VILSILVSPK 150
    VLQLTPEAGS TVTWVAGQEY VVTCVSGDAK PAPDIIFIQG GRTVEDVSSS 200
    VNEGSEEKLF FTEAEARVTP QSSDNGQLLV CEGSNPALAT PIKASFTMNI 250
    LFPPGPPVID WPGLNEGHVR AGENLELPCI ARGGNPPATL QWLKNGKPVS 300
    IAWGTEHAQA VAHSVLVMTV RPEDHGARLS CQSYNSVSAE TQERSITLQV 350
    TFPPSAVTIL GSTSQSENKN VTLCCLTKSS RPRVLLRWWL GGRQLLPTDE 400
    TVMDGLHGGH ISMSNLTLLV KREDNGLSLT CEAFSDAFSK ETFKKSLTLN 450
    VKYPAQKLWI EGPPEGQSIR TGTRVRLVCL AIGGNPEPSL TWLKDSRPVN 500
    DPRQSQEPRR VQLGSVEKSG STFSRELVLI IGPPDNLAKF SCKAGQLSAS 550
    TQLVVQFPPT NLTILANSSA LRPGDALNLT CVSISSNPPV NLSLDKEGER 600
    LDDVAAKPQS APFKGSAASR SVFLRVSSRD HGHRVTCRAH SEALRETVSS 650
    FYRLNVLYPP EFLGEQVRAV TVVEQGQALL PVSVSANPAP EAFNWTFRGY 700
    RLSPAGGPRH RILSGGALQL WNVTRADDGF YQLHCQNSEG TAEALLKLDV 750
    HYAPTIRALK DPTEVNVGGS VDIVCTVDAN PILPEMFSWE RLGEDEEELN 800
    LDDMEKMSKG STGRLRIRQA KLSQAGAYQC IVDNGVAPAA RGLVRLVVRF 850
    APQVDHPTPL TKVAAAGDST SSATLHCRAR GVPNIDFTWT KNGVPLDLQD 900
    PRYTEHKYHQ GVVHSSLLTI ANVSAAQDYA LFKCTATNAL GSDHTNIQLV 950
    SISRPDPPLG LKVVSVSPHS VGLEWKPGFD GGLPQRFQIR YEALESPGFL 1000
    YMDVLPAQAT TFTLTGLKPS TRYRIWLLAS NALGDSGLTD KGIQVSITTP 1050
    GLDQAPEDTD QPLPTEQPPG PPRLPLLPVL FAVGGLLLLS NASCVGGLLW 1100
    RRRLRRLAEE ISEKTEAGSE EDRIRNEYEE SQWTGDRDTR SSTVSTAEVD 1150
    PHYYSMRDFS PQLPPTLEEV SYRQAFTGIE DEDMAFPGHL YDEVERVYGP 1200
    PGVWGPLYDE VQMDPYDLRW PEVKYEDPRG IYDQVAADMD AGEPGSLPFE 1250
    LRGHLV 1256
    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1 – 2424MGAKE…CHLIP → MALGTTLRAS in AAF03368. (PubMed:10504499)CuratedAdd
    BLAST
    Sequence conflicti6 – 61A → V in AAF91087. (PubMed:10820162)Curated
    Sequence conflicti21 – 211H → R in AAF91087. (PubMed:10820162)Curated
    Sequence conflicti43 – 431S → P in AAF91085. (PubMed:10820162)Curated
    Sequence conflicti43 – 431S → P in AAG17142. (PubMed:12039968)Curated
    Sequence conflicti43 – 431S → P in AAK38483. (PubMed:12039968)Curated
    Sequence conflicti43 – 431S → P in BAI63574. (PubMed:19887377)Curated
    Sequence conflicti63 – 631V → I in AAF03368. (PubMed:10504499)Curated
    Sequence conflicti63 – 631V → I in AAF91087. (PubMed:10820162)Curated
    Sequence conflicti140 – 1401S → R in AAF03368. (PubMed:10504499)Curated
    Sequence conflicti140 – 1401S → R in AAF91087. (PubMed:10820162)Curated
    Sequence conflicti145 – 1451I → V in AAF03368. (PubMed:10504499)Curated
    Sequence conflicti145 – 1451I → V in AAF91087. (PubMed:10820162)Curated
    Sequence conflicti148 – 1481S → P in AAF03368. (PubMed:10504499)Curated
    Sequence conflicti148 – 1481S → P in AAF91087. (PubMed:10820162)Curated
    Sequence conflicti178 – 1781D → G in AAF03368. (PubMed:10504499)Curated
    Sequence conflicti178 – 1781D → G in AAF91087. (PubMed:10820162)Curated
    Sequence conflicti763 – 7631T → A in AAF03368. (PubMed:10504499)Curated
    Sequence conflicti996 – 9961S → T in AAF03368. (PubMed:10504499)Curated
    Sequence conflicti996 – 9961S → T in AAF91087. (PubMed:10820162)Curated
    Sequence conflicti1076 – 10761L → Q in AAF03368. (PubMed:10504499)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3333MGAKE…GMLTT → MEKWRAWDPQSIQRRKTAK in isoform 2. 1 PublicationVSP_040676Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006540278.1. XM_006540215.1. [Q9QZS7-2]
    UniGeneiMm.437830.

    Genome annotation databases

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

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS39884.1. [Q9QZS7-1 ]
    RefSeqi NP_062332.2. NM_019459.2. [Q9QZS7-1 ]
    XP_006540278.1. XM_006540215.1. [Q9QZS7-2 ]
    UniGenei Mm.437830.

    3D structure databases

    ProteinModelPortali Q9QZS7.
    SMRi Q9QZS7. Positions 47-1036.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 207694. 1 interaction.
    STRINGi 10090.ENSMUSP00000006825.

    PTM databases

    PhosphoSitei Q9QZS7.

    Proteomic databases

    PaxDbi Q9QZS7.
    PRIDEi Q9QZS7.

    Protocols and materials databases

    DNASUi 54631.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000006825 ; ENSMUSP00000006825 ; ENSMUSG00000006649 . [Q9QZS7-1 ]
    GeneIDi 54631.
    KEGGi mmu:54631.
    UCSCi uc009gem.1. mouse. [Q9QZS7-2 ]
    uc009gen.1. mouse. [Q9QZS7-1 ]

    Organism-specific databases

    CTDi 4868.
    MGIi MGI:1859637. Nphs1.

    Phylogenomic databases

    eggNOGi NOG251936.
    GeneTreei ENSGT00550000074545.
    HOVERGENi HBG031752.
    InParanoidi Q9ET59.
    OMAi NVNEGSQ.
    OrthoDBi EOG7RBZ7J.
    PhylomeDBi Q9QZS7.
    TreeFami TF327139.

    Miscellaneous databases

    NextBioi 311448.
    PROi Q9QZS7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9QZS7.
    Bgeei Q9QZS7.
    CleanExi MM_NPHS1.
    Genevestigatori Q9QZS7.

    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. 2 hits.
    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. 8 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Nephrin localizes to the slit pore of the glomerular epithelial cell."
      Holzman L.B., St John P.L., Kovari I.A., Verma R., Holthoefer H., Abrahamson D.R.
      Kidney Int. 56:1481-1491(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION.
    2. "Primary structure of mouse and rat nephrin cDNA and structure and expression of the mouse gene."
      Putaala H., Sainio K., Sariola H., Tryggvason K.
      J. Am. Soc. Nephrol. 11:991-1001(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Kidney.
    3. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-494 (ISOFORM 1), FUNCTION, DISRUPTION PHENOTYPE.
      Strain: 129/SvEv and C57BL/6J.
    4. "Ptf1a directly controls expression of immunoglobulin superfamily molecules Nephrin and Neph3 in the developing central nervous system."
      Nishida K., Hoshino M., Kawaguchi Y., Murakami F.
      J. Biol. Chem. 285:373-380(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), SELF-ASSOCIATION, INTERACTION WITH KIRREL2, TISSUE SPECIFICITY.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    6. "Alternatively used promoters and distinct elements direct tissue-specific expression of nephrin."
      Beltcheva O., Kontusaari S., Fetissov S., Putaala H., Kilpelainen P., Hokfelt T., Tryggvason K.
      J. Am. Soc. Nephrol. 14:352-358(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-19 (ISOFORM 2), TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
      Strain: 129/Sv.
    7. "CD2AP localizes to the slit diaphragm and binds to nephrin via a novel C-terminal domain."
      Shih N.Y., Li J., Cotran R., Mundel P., Miner J.H., Shaw A.S.
      Am. J. Pathol. 159:2303-2308(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CD2AP.
    8. "The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death."
      Putaala H., Soininen R., Kilpelainen P., Wartiovaara J., Tryggvason K.
      Hum. Mol. Genet. 10:1-8(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.
    9. "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin."
      Schwarz K., Simons M., Reiser J., Saleem M.A., Faul C., Kriz W., Shaw A.S., Holzman L.B., Mundel P.
      J. Clin. Invest. 108:1621-1629(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CD2AP AND NPHS2.
    10. "NEPH1 defines a novel family of podocin interacting proteins."
      Sellin L., Huber T.B., Gerke P., Quack I., Pavenstaedt H., Walz G.
      FASEB J. 17:115-117(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH KIRREL1.
      Strain: Swiss Webster.
      Tissue: Brain.
    11. "Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1."
      Gerke P., Huber T.B., Sellin L., Benzing T., Walz G.
      J. Am. Soc. Nephrol. 14:918-926(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: SELF-ASSOCIATION, INTERACTION WITH KIRREL.
    12. "Nuclear relocation of the nephrin and CD2AP-binding protein dendrin promotes apoptosis of podocytes."
      Asanuma K., Campbell K.N., Kim K., Faul C., Mundel P.
      Proc. Natl. Acad. Sci. U.S.A. 104:10134-10139(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DDN.
    13. "A role for nephrin, a renal protein, in vertebrate skeletal muscle cell fusion."
      Sohn R.L., Huang P., Kawahara G., Mitchell M., Guyon J., Kalluri R., Kunkel L.M., Gussoni E.
      Proc. Natl. Acad. Sci. U.S.A. 106:9274-9279(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.

    Entry informationi

    Entry nameiNPHN_MOUSE
    AccessioniPrimary (citable) accession number: Q9QZS7
    Secondary accession number(s): D2KXA7
    , Q811S5, Q925S5, Q9ESC6, Q9ET59, Q9JIX1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 16, 2002
    Last sequence update: March 8, 2011
    Last modified: October 1, 2014
    This is version 115 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. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3