Expression of NPHS1 in cancer - Summary

CANCER ATLAS

Gene description

Nephrosis 1, congenital, Finnish type (nephrin)

Protein class

Disease related genes, Plasma proteins, Predicted membrane proteins, Predicted secreted proteins

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

CAB035555

GENE INFORMATION
Gene name	NPHS1 (HGNC Symbol)
Synonyms	CNF, NPHN
Description	Nephrosis 1, congenital, Finnish type (nephrin) (HGNC Symbol)
Entrez gene 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]
Chromosome	19
Cytoband	q13.12
Chromosome location (bp)	35825964 - 35869287
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000161270 (version 83.38)
Entrez gene	4868
UniProt	O60500 (UniProt - Evidence at protein level)
neXtProt	NX_O60500
Antibodypedia	NPHS1 antibodies

PROTEIN BROWSER

NPHS1-001	NPHS1-002

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
NPHS1-001 ENSP00000368190 ENST00000378910	O60500 [Direct mapping] Nephrin Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000165 [MAPK cascade] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0007155 [cell adhesion] GO:0007254 [JNK cascade] GO:0007519 [skeletal muscle tissue development] GO:0007520 [myoblast fusion] GO:0007588 [excretion] GO:0017022 [myosin binding] GO:0030838 [positive regulation of actin filament polymerization] GO:0032836 [glomerular basement membrane development] GO:0035418 [protein localization to synapse] GO:0036057 [slit diaphragm] GO:0042995 [cell projection] GO:0044062 [regulation of excretion] GO:0070062 [extracellular exosome] GO:0072015 [glomerular visceral epithelial cell development] Show all	1241 aa 134.7 kDa	Yes	1
NPHS1-002 ENSP00000343634 ENST00000353632	O60500 [Direct mapping] Nephrin Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0007588 [excretion] GO:0017022 [myosin binding] GO:0032836 [glomerular basement membrane development] GO:0035418 [protein localization to synapse] GO:0036057 [slit diaphragm] GO:0070062 [extracellular exosome] GO:0072015 [glomerular visceral epithelial cell development] Show all	1201 aa 130.5 kDa	Yes	0