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Summary Expression Gene Literature (141) GO Terms (14) Nucleotides (83) Proteins (33) Interactants (201) Wiki
XB-GENEPAGE-486282
Gene Symbol:
nphp1

Gene Name:
nephronophthisis 1 (juvenile)

Synonyms:
nephrocystin1 , nephrocystin 1 , nephrocystin ( Add synonyms , Nomenclature history )

Gene Function:
zinc finger transcription factor

Protein Function :



Interactants:
Loading ...

Diseases: 


Disease Ontology:
Senior-Loken syndrome [+]

OMIM:
JOUBERT SYNDROME 4; JBTS4 [+]

External Links:
 
Xenbase Gene ID XB-GENE-486283 XB-GENE-865595 XB-GENE-17346351
Gene Symbol nphp1 nphp1.L nphp1.S
Chromosome Chr5 chr5L
Molecules X. tropicalis X. laevis.L X. laevis.S
Genomic Sequence Version 10.0 Version 9.1
CDS Gene model Gene model
Entrez Gene 100494715
432293
mRNA NCBI Nucleotide NCBI Nucleotide
Protein NCBI Protein TrEMBL NCBI Protein RefSeq  More..
Genomic
X. tropicalis X. laevis.L X. laevis.S
Genome Browser
(Click image to open in Genome Browser)
Genomic Synteny Genomicus PANTHER
Expression                  Development Stages    Embryonic TissuesAdult Tissues
Summary for
More Information
Xenbase Expression Details In situ images Single cell data at SPRING Ensembl In situ: Single cell: RNA-Seq:
Proteomics X. tropicalis X. laevis.L X. laevis.S
Embryonic Protein Expression Stage profile:
Data Mining X. tropicalis X. laevis.L X. laevis.S
XenMine nphp1 nphp1.L nphp1.S
Orthology
Knowledgebases Entrez Gene Genetic Phenotypes Gene Expression
human
HGNC AGR, OMIM:Gene, GeneCards NPHP1 OMIM Ensembl, Allen Brain Atlas, Protein Atlas
mouse
MGI, AGR Nphp1 MGI, IMPC Ensembl, Allen Brain Atlas, Eurexpress, MGI
rat
RGD, AGR Nphp1 Ensembl
zebrafish
ZFIN, AGR nphp1 ZFIN Ensembl
chicken
GEISHA NPHP1 Ensembl
fruit fly
worm
Publications
First Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia., Am J Hum Genet 2008  
Most Recent The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development., J Biol Chem 2018              
All View All Papers 1 paper(s) referencing morpholinos 3 paper(s) referencing OMIMs 5 paper(s) referencing Disease Ontology
Functional Ontologies X. tropicalis X. laevis.L X. laevis.S
GO 13 terms 2 terms 0 term
PANTHER nphp1
KEGG Pathways K19657 K19657
KOG [K] Transcription factor containing C2HC type Zn finger
Reagents X. tropicalis X. laevis.L X. laevis.S
CRISPRscan Tracks nphp1
ORFs nphp1.L ORF1
Clones Horizon Source BioScience Horizon Source BioScience
Plasmids Addgene Addgene

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