Cell Biology Antibodies 3
Anti-NPHS1 Antibody (CAB12467)
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- SKU:
- CAB12467
- Product Type:
- Antibody
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
| Antibody Name: | Anti-NPHS1 Antibody |
| Antibody SKU: | CAB12467 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 1100 to the C-terminus of human NPHS1 (NP_004637.1). |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Mouse, Rat |
| Positive Samples: |
| Immunogen: | A synthetic peptide corresponding to a sequence within amino acids 1100 to the C-terminus of human NPHS1 (NP_004637.1). |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | KTEA GSEE DRVR NEYE ESQW TGER DTQS STVS TTEA EPYY RSLR DFSP QLPP TQEE VSYS RGFT GEDE DMAF PGHL YDEV ERTY PPSG AWGP LYDE VQMG PWDL HWPE DTYQ DPRG IYDQ VAGD LDTL EPDS LPFE LRGH LV |
| Gene ID: | 4868 |
| Uniprot: | O60500 |
| Cellular Location: | Cell membrane, Single-pass type I membrane protein |
| Calculated MW: | 130kDa/134kDa |
| Observed MW: | Refer to figures |
| Synonyms: | NPHS1, CNF, NPHN, nephrin |
| Background: | This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes. |
| UniProt Protein Function: | NPHS1: 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. 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. Interacts with NPHS2. Specifically expressed in podocytes of kidney glomeruli. Belongs to the immunoglobulin superfamily. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Immunoglobulin superfamily; Membrane protein, integral; Cell adhesion Chromosomal Location of Human Ortholog: 19q13.1 Cellular Component: integral to plasma membrane; plasma membrane Molecular Function:myosin binding; protein binding Biological Process: excretion; glomerular basement membrane development Disease: Nephrotic Syndrome, Type 1 |
| NCBI Summary: | This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] |
| UniProt Code: | O60500 |
| NCBI GenInfo Identifier: | 20177993 |
| NCBI Gene ID: | 4868 |
| NCBI Accession: | O60500.1 |
| UniProt Secondary Accession: | O60500,A6NDH2, C3RX61, |
| UniProt Related Accession: | O60500 |
| Molecular Weight: | 130,546 Da |
| NCBI Full Name: | Nephrin |
| NCBI Synonym Full Names: | NPHS1, nephrin |
| NCBI Official Symbol: | NPHS1 |
| NCBI Official Synonym Symbols: | CNF; NPHN; nephrin |
| NCBI Protein Information: | nephrin |
| UniProt Protein Name: | Nephrin |
| UniProt Synonym Protein Names: | Renal glomerulus-specific cell adhesion receptor |
| Protein Family: | Nephrin |
| UniProt Gene Name: | NPHS1 |
| UniProt Entry Name: | NPHN_HUMAN |
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