NPHP3

GENERAL INFORMATION

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Gene name

NPHP3

Gene description

Nephronophthisis 3 (adolescent)

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Normal tissues showed weak to moderate cytoplasmic positivity. Strong staining was observed in skin, neuronal cells and testis. Respiratory epithelia, lymphoid cells and subset of neuronal cells showed additional nuclear staining.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA009150
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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

Heart muscle

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:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

NPHP3 (HGNC Symbol)

Synonyms

CFAP31, FLJ30691, FLJ36696, KIAA2000, MKS7, NPH3, SLSN3

Description

Nephronophthisis 3 (adolescent) (HGNC Symbol)

Entrez gene summary

This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]

Chromosome

3

Cytoband

q22.1

Chromosome location (bp)

132680609 - 132722442

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000113971 (version 78.38)

Entrez gene

27031

UniProt

Q7Z494 (UniProt - Evidence at protein level)

neXtProt

NX_Q7Z494

Antibodypedia

NPHP3 antibodies


PROTEIN BROWSER

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ENST00000337331
 
ENST00000383282
 
ENST00000512094
 
 
 
 


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)

NPHP3-006 ENSP00000338766
ENST00000337331
Q7Z494
Show all »
Show » Show » 1330 150.9 No 0
NPHP3-011 ENSP00000427666
ENST00000512094
H0YAM4
Show all »
Show » Show » 87 10 No 0
NPHP3-201 ENSP00000372769
ENST00000383282
Show » 150 15.8 No 0