Gene Symbol | NPHS1 |
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Entrez Gene | 4868 |
Alt Symbol | CNF, NPHN, nephrin |
Species | Human |
Gene Type | protein-coding |
Description | nephrosis 1, congenital, Finnish type (nephrin) |
Other Description | nephrin|renal glomerulus-specific cell adhesion receptor |
Swissprots | C3RX61 O60500 A6NDH2 |
Accessions | AAB80768 O60500 AF035835 AAC39687 AF126957 AAF36451 AF190637 AAG17141 AK310731 BC156195 AAI56196 BC156935 AAI56936 BX103667 EU642886 ACH99862 EU642887 NM_004646 NP_004637 |
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 (By similarity). {ECO:0000250}. |
Subcellular Location | Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane. {ECO:0000269|PubMed:10393930, ECO:0000269|PubMed:10550324}. |
Tissue Specificity | Specifically expressed in podocytes of kidney glomeruli. |
nephrin CRISPR/Cas9 KO Plasmid (h) - sc-400368 from Santa Cruz Biotechnology
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nephrin HDR Plasmid (h) - sc-400368-HDR from Santa Cruz Biotechnology
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nephrin Double Nickase Plasmid (h) - sc-400368-NIC from Santa Cruz Biotechnology
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nephrin Double Nickase Plasmid (h2) - sc-400368-NIC-2 from Santa Cruz Biotechnology
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nephrin CRISPR Activation Plasmid (h) - sc-400368-ACT from Santa Cruz Biotechnology
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nephrin CRISPR Activation Plasmid (h2) - sc-400368-ACT-2 from Santa Cruz Biotechnology
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nephrin Lentiviral Activation Particles (h) - sc-400368-LAC from Santa Cruz Biotechnology
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nephrin Lentiviral Activation Particles (h2) - sc-400368-LAC-2 from Santa Cruz Biotechnology
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nephrin siRNA (h) - sc-36030 from Santa Cruz Biotechnology
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nephrin shRNA Plasmid (h) - sc-36030-SH from Santa Cruz Biotechnology
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nephrin shRNA (h) Lentiviral Particles - sc-36030-V from Santa Cruz Biotechnology
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MISSION® esiRNA - EHU094491 from Sigma-Aldrich
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MISSION® esiRNA - EHU096091 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN15454 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND15454 from Sigma-Aldrich
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MISSION® 3′UTR Lenti GoClone™ - HUTR05584 from Sigma-Aldrich
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NPHS1 siRNA (Human) - CRH3237 from Cohesion Biosciences
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shRNA set against Human NPHS1 (NM_004646.3) - SHH354248 from Creative biogene
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nephrin CRISPR/Cas9 KO Plasmid (h2) - sc-400368-KO-2 from Santa Cruz Biotechnology
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nephrin HDR Plasmid (h2) - sc-400368-HDR-2 from Santa Cruz Biotechnology
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Human NPHS1 siRNA - orb263739 from Biorbyt
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NPHS1 shRNA Plasmid (Human) - CHH3237 from Cohesion Biosciences
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NPHS1 miRNA 3'UTR clone - MiUTR3H-05263 from Creative biogene
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