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Browse NPHS1

Summary
SymbolNPHS1
Namenephrosis 1, congenital, Finnish type (nephrin)
Aliases CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location19q12-q13.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location Cell membrane Single-pass type I membrane protein Note=Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.
Domain PF08205 CD80-like C2-set immunoglobulin domain
PF00041 Fibronectin type III domain
PF07686 Immunoglobulin V-set domain
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).

> Gene Ontology
 
Biological Process GO:0000768 syncytium formation by plasma membrane fusion
GO:0001655 urogenital system development
GO:0001822 kidney development
GO:0002064 epithelial cell development
GO:0006949 syncytium formation
GO:0007015 actin filament organization
GO:0007254 JNK cascade
GO:0007517 muscle organ development
GO:0007519 skeletal muscle tissue development
GO:0007520 myoblast fusion
GO:0007588 excretion
GO:0008064 regulation of actin polymerization or depolymerization
GO:0008154 actin polymerization or depolymerization
GO:0014706 striated muscle tissue development
GO:0014902 myotube differentiation
GO:0030041 actin filament polymerization
GO:0030198 extracellular matrix organization
GO:0030832 regulation of actin filament length
GO:0030833 regulation of actin filament polymerization
GO:0030838 positive regulation of actin filament polymerization
GO:0031098 stress-activated protein kinase signaling cascade
GO:0031334 positive regulation of protein complex assembly
GO:0032271 regulation of protein polymerization
GO:0032273 positive regulation of protein polymerization
GO:0032535 regulation of cellular component size
GO:0032835 glomerulus development
GO:0032836 glomerular basement membrane development
GO:0032956 regulation of actin cytoskeleton organization
GO:0032970 regulation of actin filament-based process
GO:0035418 protein localization to synapse
GO:0035850 epithelial cell differentiation involved in kidney development
GO:0042692 muscle cell differentiation
GO:0043062 extracellular structure organization
GO:0043254 regulation of protein complex assembly
GO:0044057 regulation of system process
GO:0044062 regulation of excretion
GO:0044089 positive regulation of cellular component biogenesis
GO:0051146 striated muscle cell differentiation
GO:0051258 protein polymerization
GO:0051403 stress-activated MAPK cascade
GO:0051493 regulation of cytoskeleton organization
GO:0051495 positive regulation of cytoskeleton organization
GO:0060537 muscle tissue development
GO:0060538 skeletal muscle organ development
GO:0061005 cell differentiation involved in kidney development
GO:0061318 renal filtration cell differentiation
GO:0072001 renal system development
GO:0072006 nephron development
GO:0072009 nephron epithelium development
GO:0072010 glomerular epithelium development
GO:0072015 glomerular visceral epithelial cell development
GO:0072073 kidney epithelium development
GO:0072112 glomerular visceral epithelial cell differentiation
GO:0072310 glomerular epithelial cell development
GO:0072311 glomerular epithelial cell differentiation
GO:0090066 regulation of anatomical structure size
Molecular Function GO:0017022 myosin binding
Cellular Component GO:0036056 filtration diaphragm
GO:0036057 slit diaphragm
> KEGG and Reactome Pathway
 
KEGG -
Reactome R-HSA-1500931: Cell-Cell communication
R-HSA-373753: Nephrin interactions
Summary
SymbolNPHS1
Namenephrosis 1, congenital, Finnish type (nephrin)
Aliases CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location19q12-q13.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between NPHS1 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 

There is no record.
Summary
SymbolNPHS1
Namenephrosis 1, congenital, Finnish type (nephrin)
Aliases CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location19q12-q13.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of NPHS1 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolNPHS1
Namenephrosis 1, congenital, Finnish type (nephrin)
Aliases CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location19q12-q13.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of NPHS1 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)14120.1690.583
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)650.5430.416
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.1120.815
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160.5940.567
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590.1580.921
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 471.1360.522
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.4840.54
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15111.2910.405
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 1112-0.2530.891
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 48-0.2170.79
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 28-0.7830.456
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.8080.029
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of NPHS1 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 141714.3014.30.196
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 103100101
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 414250250.222
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 277311.11.49.70.0589
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 275911.11.79.40.0895
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)211714.3014.30.238
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)8612.5012.51
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)131115.4015.40.482
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91611.16.24.91
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59011.1-11.11
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47250250.364
1329033130MelanomaallAnti-PD-1 (nivolumab) 38277.907.90.26
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22139.109.10.519
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16146.206.21
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolNPHS1
Namenephrosis 1, congenital, Finnish type (nephrin)
Aliases CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location19q12-q13.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of NPHS1. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolNPHS1
Namenephrosis 1, congenital, Finnish type (nephrin)
Aliases CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location19q12-q13.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of NPHS1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by NPHS1.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolNPHS1
Namenephrosis 1, congenital, Finnish type (nephrin)
Aliases CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location19q12-q13.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of NPHS1. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolNPHS1
Namenephrosis 1, congenital, Finnish type (nephrin)
Aliases CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location19q12-q13.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of NPHS1 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolNPHS1
Namenephrosis 1, congenital, Finnish type (nephrin)
Aliases CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location19q12-q13.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between NPHS1 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolNPHS1
Namenephrosis 1, congenital, Finnish type (nephrin)
Aliases CNF; NPHN; nephrin; renal glomerulus-specific cell adhesion receptor
Chromosomal Location19q12-q13.1
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting NPHS1 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.