NPHP3

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 VIEW

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NPHP3-006
 
NPHP3-011
 
NPHP3-201
 
 
 
 
 

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