We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
Fields »
 

Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Tissue

Detectable

Cell line

Detectable

Category

Score

Score

Score

Antibodies

Column

 
 
ABOUT
HELP
BLOG
  • THE HUMAN PROTEOME
  • THE HUMAN TISSUES
  • THE HUMAN CELL
  • PROTEIN CLASSES
  • PROTEIN EVIDENCE
    • NEWS
    • BLOG
    • EVENTS
    • PRESS ROOM
    • LEARN
    • DICTIONARY
    • METHODS
    • CELL LINES
  • THE PROJECT
  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS
  • PUBLICATION DATA
  • ANTIBODY SUBMISSION
  • ANTIBODY AVAILABILITY
  • LINKS
  • CONTACT
  • TECHNICAL DATA
  • ANTIBODY VALIDATION
  • ASSAYS & ANNOTATION
  • DISCLAIMER
  • DOWNLOADABLE DATA
  • HELP & FAQ
  • LICENCE & CITATION
  • PRIVACY STATEMENT
  • RELEASE HISTORY
NPHS1
  • premium

    TISSUE

  • CELL

  • CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

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
SHOW MORE

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
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
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
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

Contact

  • BLOG
  • PRESS ROOM
  • contact@proteinatlas.org

The Project

  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS
  • DOWNLOADABLE DATA

The Human Protein Atlas

  • ANTIBODY AVAILABILITY
  • LICENCE & CITATION
  • HELP & FAQ
The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.