Version 5.4
Bos taurus Gene: NPHP3
Summary
InnateDB Gene IDBG-639019.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NPHP3
Gene Name nephrocystin-3
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000005769
Encoded Proteins
IDBP-691147
nephronophthisis 3 (adolescent)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000113971:
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 1:137902568-137957297
Strand Forward strand
Band
Transcripts
ENSBTAT00000007584 ENSBTAP00000007584
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
Predicted by orthology
Total 14 [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:0006629 lipid metabolic process
GO:0007163 establishment or maintenance of cell polarity
GO:0007368 determination of left/right symmetry
GO:0030198 extracellular matrix organization
GO:0030324 lung development
GO:0030814 regulation of cAMP metabolic process
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: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
Cellular Component
GO:0005929 cilium
GO:0072372 primary cilium
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000113971
View Gene Order
ENSMUSG00000032558
View Gene Order
Cross-References
SwissProt
TrEMBL E1BP93
UniProt Splice Variant
Entrez Gene 507522
UniGene Bt.105674
RefSeq NM_001192152 XM_005201951
HUGO HGNC:48351
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02003092
GenPept
RNA Seq Atlas 507522

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca