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 (B-12) - sc-377246 from Santa Cruz Biotechnology
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nephrin (E-1) - sc-376568 from Santa Cruz Biotechnology
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nephrin (G-20) - sc-32530 from Santa Cruz Biotechnology
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nephrin (G-8) - sc-376522 from Santa Cruz Biotechnology
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nephrin (H-300) - sc-28192 from Santa Cruz Biotechnology
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nephrin (C-17) - sc-32529 from Santa Cruz Biotechnology
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nephrin (N-20) - sc-19000 from Santa Cruz Biotechnology
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nephrin (N-16) - sc-32532 from Santa Cruz Biotechnology
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Anti-Nephrin (phospho Y1176 + Y1193) antibody [EPTPG1] - ab80299 from Abcam
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Anti-Nephrin (phospho Y1217) antibody [EPTPG3] - ab80298 from Abcam
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Anti-Nephrin antibody - ab58968 from Abcam
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Anti-Nephrin antibody - ab72908 from Abcam
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Anti-Nephrin antibody - ab85379 from Abcam
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Anti-Nephrin antibody - ab92887 from Abcam
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Anti-Nephrin antibody [G17-H] - ab136927 from Abcam
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Anti-Nephrin antibody, prediluted - ab82113 from Abcam
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Anti-Nephrin antibody [Y17-R] - ab136894 from Abcam
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Anti-Nephrin antibody - C-terminal - ab183099 from Abcam
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Anti-NPHS1 / Nephrin Antibody (aa23-383) - LS-C343979 from LifeSpan Bioscience
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Anti-NPHS1 / Nephrin Antibody - LS-C332338 from LifeSpan Bioscience
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Anti-NPHS1 / Nephrin Antibody (C-Terminus) IHC-plus⢠- LS-B1382 from LifeSpan Bioscience
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Anti-NPHS1 / Nephrin Antibody (aa23-1029) - LS-C37499 from LifeSpan Bioscience
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Anti-NPHS1 / Nephrin Antibody - LS-C83675 from LifeSpan Bioscience
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Anti-NPHS1 / Nephrin Antibody (C-Terminus) - LS-C83682 from LifeSpan Bioscience
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Anti-NPHS1 / Nephrin Antibody (aa1243-1256) - LS-C86180 from LifeSpan Bioscience
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