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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. NPHP1, nephronophthisis 1 (juvenile)
Sequence ID:NM_000272
NM_001128178
NM_001128179
NM_207181
RefSeqGene ID:NG_008287
Entrez Gene ID:4867
Ensembl ID:ENSG00000144061

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
JOUBERT SYNDROME 4 
NEPHRONOPHTHISIS 1, JUVENILE 
SENIOR-LOKEN SYNDROME-1 

Cytogenetic Location (from UniGene)

Cytogenetic Location:2q13Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:2: 110879903 - 110962540

 Exon Info From UCSC:
NM_000272
NM_001128178
NM_001128179
NM_207181

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
5187280Full LengthBC062574nephronophthisis 1 (juvenile)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000263  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000272 NP_000263   SH3_1
SH3_2
NM_001128178 NP_001121650    
NM_001128179 NP_001121651    
NM_207181 NP_997064 O15259  

Related Sequences

 
mRNAGenPeptSwissProt
AF023674 AAC51771 O15259
BC062574 AAH62574 O15259
HQ447938 ADQ32422  
AK299011 BAG61092 B4DQY0
AJ001815 CAA05030 O15259
BX571745 CAE11870 Q7Z2W3

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens NPHP1 NP_000263 R.norvegicus Nphp1 296136   NP_001099976 86
M.musculus Nphp1 53885 Gene Info NP_058598 77
C.elegans nph-1 174643   NP_496298 29

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)