NPHS1 - NPHS1 adhesion molecule, nephrin Gene
Also Known as CNF; NPHN; nephrin
Species: Homo sapiens
About NPHS1
This gene has 5 transcripts (splice variants), 180 orthologues, 3 paralogues and is associated with 4 phenotypes. Biased expression in kidney (RPKM 12.8), pancreas (RPKM 3.0) and 1 other tissue.
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]
NPHS1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_004646.4 | NP_004637.1 | nephrin precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables myosin binding |
IPI
IPI: Inferred from physical interaction
|
21402783 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16525419 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in glomerular basement membrane development |
IEP
IEP: Inferred from expression pattern
|
17464107 | GOA |
| involved in podocyte development |
IEP
IEP: Inferred from expression pattern
|
17464107 | GOA |
| involved in protein localization to synapse |
IGI
IGI: Inferred from genetic interaction
|
21858180 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
17464107 | GOA |
NPHS1 Protein Structure
V-set: Immunoglobulin V-set domain (37 - 117)
C2-set_2: CD80-like C2-set immunoglobulin domain (142 - 226)
C2-set_2: CD80-like C2-set immunoglobulin domain (259 - 322)
C2-set_2: CD80-like C2-set immunoglobulin domain (348 - 426)
C2-set_2: CD80-like C2-set immunoglobulin domain (446 - 530)
C2-set_2: CD80-like C2-set immunoglobulin domain (561 - 632)
Ig_2: Immunoglobulin domain (740 - 832)
I-set: Immunoglobulin I-set domain (857 - 935)
fn3: Fibronectin type III domain (942 - 1022)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1241 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
nephrin |
|
NPHS1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
NPHS1 | O60500 | IQGAP1 | Homo sapiens | P46940 | 22662192 | |
|
Intra
|
NPHS1 | O60500 | IQGAP1 | Homo sapiens | P46940 | 22662192 | |
|
Intra
|
NPHS1 | O60500 | IQGAP1 | Homo sapiens | P46940 | 22662192 |
NPHS1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83743 | Nephrin Antibody (YA3472) | WB, IHC-P, IHC-F, IF-Tissue | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Nephrotic Syndrome, Type 1 |
|
|
| Focal Segmental Glomerulosclerosis |
|
|
| Familial Nephrotic Syndrome |
|
|
| Nephrotic Syndrome |
|
|
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
|
| Lipoid Nephrosis |
|
|
| Membranous Nephropathy |
|
|
| Frasier Syndrome |
|
|
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
|
| Nephrosclerosis |
|
|
| Kidney Hypertrophy |
|
|
| Glomerulonephritis |
|
|
| Denys-Drash Syndrome |
|
|
| Iga Glomerulonephritis |
|
|
| Kidney Disease |
|
|
| Idiopathic Nephrotic Syndrome |
|
|
| Pierson Syndrome |
|
|
| Membranoproliferative Glomerulonephritis |
|
|
| Diffuse Mesangial Sclerosis |
|
|
| Athetosis |
|
|
| Crescentic Glomerulonephritis |
|
|
| Acute Proliferative Glomerulonephritis |
|
|
| Microvascular Complications Of Diabetes 3 |
|
|
| Focal Segmental Glomerulosclerosis 2 |
|
|
| Nephrotic Syndrome, Type 2 |
|
|
| Focal Segmental Glomerulosclerosis 1 |
|
|
| Oligomeganephronia |
|
|
| Congenital Syphilis |
|
|
| Pre-Eclampsia |
|
|
| Hyperglycemia |
|
|
| Nephrotic Syndrome, Type 4 |
|
|
| Chronic Kidney Disease |
|
|
| Nail-Patella Syndrome |
|
|
| Alport Syndrome |
|
|
| Mesangial Proliferative Glomerulonephritis |
|
|
| Plexiform Neurofibroma |
|
|
| Renal Hypertension |
|
|
| Hematuria, Benign Familial |
|
|
| Analbuminemia |
|
|
| Nephrotic Syndrome, Type 10 |
|
|
| Galloway-Mowat Syndrome |
|
|
| Ureteral Disease |
|
|
| Autosomal Recessive Alport Syndrome |
|
|
| Autoimmune Disease Of Urogenital Tract |
|
|
| Rapidly Progressive Glomerulonephritis |
|
|
| Hemoglobin D Disease |
|
|
| Urinary Tract Obstruction |
|
|
| Galloway-Mowat Syndrome 1 |
|
|
| Goodpasture Syndrome |
|
|
| Wilms Tumor 1 |
|
|
| Pyelitis |
|
|
| Pseudohermaphroditism |
|
|
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
|
| Cakut |
|
|
| Hypertension, Essential |
|
|
| Cystic Kidney Disease |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Polycystic Kidney Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | NPHS1 | MGD | MGI:1859637 |
| Bos taurus | NPHS1 | VGNC | VGNC:50232 |
| Macaca mulatta | NPHS1 | VGNC | VGNC:103837 |
| Canis familiaris | NPHS1 | VGNC | VGNC:49930 |
| Felis catus | NPHS1 | VGNC | VGNC:68532 |
| Others | NPHS1 | NCBI |