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NPHS1

GENERAL INFORMATION

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

RNA tissue category
HPA:Tissue enhanced (kidney, pancreas, lymph node)
GTEx:Group enriched (kidney, pancreas)
FANTOM5:Not detected

Protein evidence

 Evidence at protein level

Protein expression

 Distinct cytoplasmic expression in podocytes in kidney.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
CAB035555
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (kidney, pancreas, lymph node)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (kidney, pancreas)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Not detected

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
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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)
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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]
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 1241 aa
134.7 kDa 		Yes 1
NPHS1-002
ENSP00000343634
ENST00000353632
O60500 [Direct mapping]
Nephrin
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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

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.