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Index > Protein center > NPHS1(Gene name) > Human
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  • NPHS1 (Gene name),
  • Nephrin (Protein name ),  NPHN_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    NPHS1(NPHN);
    Protein name:
    Nephrin;
    Alternative:
    Renal glomerulus-specific cell adhesion receptor;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    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.
    Function:
    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.
    Subcellular Location:
    Cell membrane Single-pass type I membrane protein Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.
    Protein Attributes:
    Sequence length:
    1241
    Sequence:
    50:
    MALGTTLRAS | LLLLGLLTEG | LAQLAIPASV | PRGFWALPEN | LTVVEGASVE | 
    100:
    LRCGVSTPGS | AVQWAKDGLL | LGPDPRIPGF | PRYRLEGDPA | RGEFHLHIEA | 
    150:
    CDLSDDAEYE | CQVGRSEMGP | ELVSPRVILS | ILVPPKLLLL | TPEAGTMVTW | 
    200:
    VAGQEYVVNC | VSGDAKPAPD | ITILLSGQTI | SDISANVNEG | SQQKLFTVEA | 
    250:
    TARVTPRSSD | NRQLLVCEAS | SPALEAPIKA | SFTVNVLFPP | GPPVIEWPGL | 
    300:
    DEGHVRAGQS | LELPCVARGG | NPLATLQWLK | NGQPVSTAWG | TEHTQAVARS | 
    350:
    VLVMTVRPED | HGAQLSCEAH | NSVSAGTQEH | GITLQVTFPP | SAIIILGSAS | 
    400:
    QTENKNVTLS | CVSKSSRPRV | LLRWWLGWRQ | LLPMEETVMD | GLHGGHISMS | 
    450:
    NLTFLARRED | NGLTLTCEAF | SEAFTKETFK | KSLILNVKYP | AQKLWIEGPP | 
    500:
    EGQKLRAGTR | VRLVCLAIGG | NPEPSLMWYK | DSRTVTESRL | PQESRRVHLG | 
    550:
    SVEKSGSTFS | RELVLVTGPS | DNQAKFTCKA | GQLSASTQLA | VQFPPTNVTI | 
    600:
    LANASALRPG | DALNLTCVSV | SSNPPVNLSW | DKEGERLEGV | AAPPRRAPFK | 
    650:
    GSAAARSVLL | QVSSRDHGQR | VTCRAHSAEL | RETVSSFYRL | NVLYRPEFLG | 
    700:
    EQVLVVTAVE | QGEALLPVSV | SANPAPEAFN | WTFRGYRLSP | AGGPRHRILS | 
    750:
    SGALHLWNVT | RADDGLYQLH | CQNSEGTAEA | RLRLDVHYAP | TIRALQDPTE | 
    800:
    VNVGGSVDIV | CTVDANPILP | GMFNWERLGE | DEEDQSLDDM | EKISRGPTGR | 
    850:
    LRIHHAKLAQ | AGAYQCIVDN | GVAPPARRLL | RLVVRFAPQV | EHPTPLTKVA | 
    900:
    AAGDSTSSAT | LHCRARGVPN | IVFTWTKNGV | PLDLQDPRYT | EHTYHQGGVH | 
    950:
    SSLLTIANVS | AAQDYALFTC | TATNALGSDQ | TNIQLVSISR | PDPPSGLKVV | 
    1000:
    SLTPHSVGLE | WKPGFDGGLP | QRFCIRYEAL | GTPGFHYVDV | VPPQATTFTL | 
    1050:
    TGLQPSTRYR | VWLLASNALG | DSGLADKGTQ | LPITTPGLHQ | PSGEPEDQLP | 
    1100:
    TEPPSGPSGL | PLLPVLFALG | GLLLLSNASC | VGGVLWQRRL | RRLAEGISEK | 
    1150:
    TEAGSEEDRV | RNEYEESQWT | GERDTQSSTV | STTEAEPYYR | SLRDFSPQLP | 
    1200:
    PTQEEVSYSR | GFTGEDEDMA | FPGHLYDEVE | RTYPPSGAWG | PLYDEVQMGP | 
    1241:
    WDLHWPEDTY | QDPRGIYDQV | AGDLDTLEPD | SLPFELRGHL | V
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    MIM:
    KEGG:
    Pfam:
    SMR:
    String:
    UniGene:
    Uniprot:
     
    FOR
    ELISA Kit for Human Nephrin
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    E0937h
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    ELISA Kit for Human Nephrin
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    E0937r
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    ELISA Kit for Human Nephrin
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    E0937m
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    CLIA Kit for Human Nephrin
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    U0937r
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    Packing:
    96T
    CLIA Kit for Human Nephrin
    Cat.:
    U0937h
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human Nephrin
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    U0937m
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human Nephrin
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    P0937Rb-h
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Nephrin
    Cat.:
    P0937Rb-m
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Nephrin
    Cat.:
    P0937Rb-r
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    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Nephrin
    Monoclonal Antibody for Human Nephrin
    Monoclonal Antibody for Human Nephrin
    Protein for Human Nephrin
    Protein for Human Nephrin
    Protein for Human Nephrin

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    References
    1. 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. Cell1:575-582(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);INVOLVEMENT IN NPHS1
    2. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT LYS-117
    3. 3.
      "Human nephrin (NPHS1) cDNA sequence."
      Grunkemeyer J.A. , Kumar N. , Kalluri R.
      Submitted (1999-09) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
    4. 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. , more...
      Nature428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    5. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1032-1134 (ISOFORM 2);SUBCELLULAR LOCATION
    6. 6.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION
    7. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH NPHS2
    8. 8.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-432;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
      tissue: Platelet.
    9. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPHS1 VAL-819;VARIANT LYS-447
    11. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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. 13.
      "A familial childhood-onset relapsing nephrotic syndrome."
      Kitamura A. , Tsukaguchi H. , Hiramoto R. , Shono A. , Doi T. , Kagami S. , Iijima K.
      Kidney Int.71:946-951(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPHS1 ARG-265 AND MET-822
    14. 14.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPHS1 VAL-96; THR-107; GLN-460; GLN-575; PRO-832 AND SER-976;CHARACTERIZATION OF VARIANT NPHS1 PRO-832
    15. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPHS1 TRP-256; CYS-367; CYS-412; SER-519; ARG-569 AND GLY-709
    16. 16.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPHS1 THR-742;VARIANT LYS-117
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