NPHP3

GENE INFORMATION

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Gene name

NPHP3 (HGNC Symbol)

Synonyms

FLJ30691, FLJ36696, KIAA2000, MKS7, NPH3

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 (Chromosome progress)

Cytoband

q22.1

Chromosome location (bp)

132276986 - 132441303

Ensembl

ENSG00000113971 (version 73.37)

Entrez gene

27031

UniProt

Q7Z494 (UniProt - Evidence at protein level)

neXtProt

NX_Q7Z494

Antibodypedia

NPHP3 antibodies
 

PROTEIN VIEW

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NPHP3-001
 
NPHP3-002
 
NPHP3-003
 
NPHP3-006
 
NPHP3-011
 
NPHP3-201
 
NPHP3-202
 
NPHP3-203
 
 
 
 
 

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)

NPHP3-001 ENSP00000419763
ENST00000471702
Q7Z494
Show all »
Show » 636 71.1 No 0
NPHP3-002 ENSP00000419907
ENST00000465756
F2Z3A8
Show all »
538 60.5 No 0
NPHP3-003 ENSP00000418664
ENST00000469232
Q7Z494
Show all »
Show » 123 14.4 No 0
NPHP3-006 ENSP00000338766
ENST00000337331
Q7Z494
Show all »
Show » Show » 1330 150.9 No 0
NPHP3-011 ENSP00000427666
ENST00000512094
H0YAM4
Show all »
Show » 87 10 No 0
NPHP3-201 ENSP00000319909
ENST00000326682
Q7Z494
Show all »
Show » 704 79.1 No 0
NPHP3-202 ENSP00000344802
ENST00000343113
Q7Z494
Show all »
Show » 239 26.3 No 0
NPHP3-203 ENSP00000372769
ENST00000383282
Q7Z494
Show all »
Show » 150 15.8 No 0