NPHS1

GENERAL INFORMATION

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Gene name

NPHS1

Gene description

Nephrosis 1, congenital, Finnish type (nephrin)

Protein class

Disease related genes
Plasma proteins
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

Membrane,Secreted

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (kidney, pancreas)
GTEx:Group enriched (kidney, pancreas)

Protein evidence

Evidence at protein level

Protein localization

High cytoplasmic expression in podocytes in kidney.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
CAB035555
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (kidney, pancreas)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (kidney, pancreas)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

4868

UniProt

O60500 (UniProt - Evidence at protein level)

neXtProt

NX_O60500

Antibodypedia

NPHS1 antibodies


PROTEIN BROWSER

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ENST00000353632
 
ENST00000378910
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NPHS1-001 ENSP00000368190
ENST00000378910
O60500
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Show » Show » 1241 134.7 Yes 1
NPHS1-002 ENSP00000343634
ENST00000353632
O60500
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Show » Show » 1201 130.5 Yes 0