InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: NPHP3

Summary

InnateDB Gene

IDBG-56896.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NPHP3

Gene Name

nephronophthisis 3 (adolescent)

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000113971

Encoded Proteins

IDBP-56902

nephronophthisis 3 (adolescent)

IDBP-56908

nephronophthisis 3 (adolescent)

IDBP-480042

nephronophthisis 3 (adolescent)

IDBP-480867

nephronophthisis 3 (adolescent)

IDBP-474391

nephronophthisis 3 (adolescent)

IDBP-482505

nephronophthisis 3 (adolescent)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:132680609-132722442

Strand

Reverse strand

Band

q22.1

Transcripts

ENST00000337331	ENSP00000338766
ENST00000383282	ENSP00000372769
ENST00000471702	ENSP00000419763
ENST00000474871
ENST00000493732
ENST00000490993
ENST00000465756	ENSP00000419907
ENST00000512094	ENSP00000427666
ENST00000515289
ENST00000469232	ENSP00000418664
ENST00000476742
ENST00000471145

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	11 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0001822	kidney development
GO:0001947	heart looping
GO:0003283	atrial septum development
GO:0007368	determination of left/right symmetry
GO:0016055	Wnt signaling pathway
GO:0030324	lung development
GO:0035469	determination of pancreatic left/right asymmetry
GO:0045494	photoreceptor cell maintenance
GO:0048496	maintenance of organ identity
GO:0060027	convergent extension involved in gastrulation
GO:0060271	cilium morphogenesis
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry
GO:0060993	kidney morphogenesis
GO:0071908	determination of intestine left/right asymmetry
GO:0071909	determination of stomach left/right asymmetry
GO:0071910	determination of liver left/right asymmetry
GO:0072189	ureter development
GO:0090090	negative regulation of canonical Wnt signaling pathway
GO:2000095	regulation of Wnt signaling pathway, planar cell polarity pathway
GO:2000167	regulation of planar cell polarity pathway involved in neural tube closure

Cellular Component

GO:0005929	cilium
GO:0072372	primary cilium

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000032558

View Gene Order

ENSBTAG00000005769

Not yet available

Cross-References

SwissProt

Q7Z494

TrEMBL

F2Z3A8 H0YAM4

UniProt Splice Variant

Entrez Gene

27031

UniGene

Hs.511991

RefSeq

NM_153240

HUGO

HGNC:7907

OMIM

608002

CCDS

CCDS3078

HPRD

IMGT

EMBL

AB082531 AC020632 AC055732 AK055253 AK055893 AK094015 AL832863 AL832877 AY257864 AY257865 AY257866 BC068082 CR749498

GenPept

AAH68082 AAP83423 AAP83424 AAP83425 BAB70891 BAB71038 BAC02709 BAC04268 CAH18321 CAI46200 CAI46202

RNA Seq Atlas

27031