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NPHP1 (nephrocystin 1)

Identity

Alias (NCBI)JBTS4
NPH1
SLSN1
HGNC (Hugo) NPHP1
HGNC Alias symbJBTS4
SLSN1
HGNC Previous nameNPH1
HGNC Previous namenephronophthisis 1 (juvenile)
LocusID (NCBI) 4867
Atlas_Id 56524
Location 2q13  [Link to chromosome band 2q13]
Location_base_pair Starts at 110122327 and ends at 110205013 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CD109 (6q13) / NPHP1 (2q13)NPHP1 (2q13) / MALL (2q13)NPHP1 (2q13) / PARG (10q11.23)
NPHP1 (2q13) / RAMP2 (17q21.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)NPHP1   7905
Cards
Entrez_Gene (NCBI)NPHP1    nephrocystin 1
AliasesJBTS4; NPH1; SLSN1
GeneCards (Weizmann)NPHP1
Ensembl hg19 (Hinxton)ENSG00000144061 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144061 [Gene_View]  ENSG00000144061 [Sequence]  chr2:110122327-110205013 [Contig_View]  NPHP1 [Vega]
ICGC DataPortalENSG00000144061
TCGA cBioPortalNPHP1
AceView (NCBI)NPHP1
Genatlas (Paris)NPHP1
SOURCE (Princeton)NPHP1
Genetics Home Reference (NIH)NPHP1
Genomic and cartography
GoldenPath hg38 (UCSC)NPHP1  -     chr2:110122327-110205013 -  2q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NPHP1  -     2q13   [Description]    (hg19-Feb_2009)
GoldenPathNPHP1 - 2q13 [CytoView hg19]  NPHP1 - 2q13 [CytoView hg38]
ImmunoBaseENSG00000144061
Genome Data Viewer NCBINPHP1 [Mapview hg19]  
OMIM256100   266900   607100   609583   
Gene and transcription
Genbank (Entrez)AF023674 AI433852 AJ001815 AK225600 AK299011
RefSeq transcript (Entrez)NM_000272 NM_001128178 NM_001128179 NM_001374256 NM_001374257 NM_207181
Consensus coding sequences : CCDS (NCBI)NPHP1
Gene ExpressionNPHP1 [ NCBI-GEO ]   NPHP1 [ EBI - ARRAY_EXPRESS ]   NPHP1 [ SEEK ]   NPHP1 [ MEM ]
Gene Expression Viewer (FireBrowse)NPHP1 [ Firebrowse - Broad ]
GenevisibleExpression of NPHP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4867
GTEX Portal (Tissue expression)NPHP1
Human Protein AtlasENSG00000144061-NPHP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15259   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15259  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15259
PhosPhoSitePlusO15259
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)NPHP1    NPHP1_SH3    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam00018   
Domain families : Smart (EMBL)SH3 (SM00326)  
Conserved Domain (NCBI)NPHP1
PDB (RSDB)1S1N    6O1Q   
PDB Europe1S1N    6O1Q   
PDB (PDBSum)1S1N    6O1Q   
PDB (IMB)1S1N    6O1Q   
Structural Biology KnowledgeBase1S1N    6O1Q   
SCOP (Structural Classification of Proteins)1S1N    6O1Q   
CATH (Classification of proteins structures)1S1N    6O1Q   
SuperfamilyO15259
AlphaFold pdb e-kbO15259   
Human Protein Atlas [tissue]ENSG00000144061-NPHP1 [tissue]
HPRD02019
Protein Interaction databases
DIP (DOE-UCLA)O15259
IntAct (EBI)O15259
BioGRIDNPHP1
STRING (EMBL)NPHP1
ZODIACNPHP1
Ontologies - Pathways
QuickGOO15259
Ontology : AmiGOstructural molecule activity  protein binding  cytoplasm  cytosol  cytoskeleton  cell-cell junction  adherens junction  bicellular tight junction  cilium  signal transduction  excretion  visual behavior  membrane  cell projection organization  actin cytoskeleton organization  motile cilium  photoreceptor connecting cilium  spermatid differentiation  retina development in camera-type eye  protein localization involved in establishment of planar polarity  ciliary basal body-plasma membrane docking  cell-cell adhesion  positive regulation of bicellular tight junction assembly  
Ontology : EGO-EBIstructural molecule activity  protein binding  cytoplasm  cytosol  cytoskeleton  cell-cell junction  adherens junction  bicellular tight junction  cilium  signal transduction  excretion  visual behavior  membrane  cell projection organization  actin cytoskeleton organization  motile cilium  photoreceptor connecting cilium  spermatid differentiation  retina development in camera-type eye  protein localization involved in establishment of planar polarity  ciliary basal body-plasma membrane docking  cell-cell adhesion  positive regulation of bicellular tight junction assembly  
NDEx NetworkNPHP1
Atlas of Cancer Signalling NetworkNPHP1
Wikipedia pathwaysNPHP1
Orthology - Evolution
OrthoDB4867
GeneTree (enSembl)ENSG00000144061
Phylogenetic Trees/Animal Genes : TreeFamNPHP1
Homologs : HomoloGeneNPHP1
Homology/Alignments : Family Browser (UCSC)NPHP1
Gene fusions - Rearrangements
Fusion : QuiverNPHP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPHP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPHP1
dbVarNPHP1
ClinVarNPHP1
MonarchNPHP1
1000_GenomesNPHP1 
Exome Variant ServerNPHP1
GNOMAD BrowserENSG00000144061
Varsome BrowserNPHP1
ACMGNPHP1 variants
VarityO15259
Genomic Variants (DGV)NPHP1 [DGVbeta]
DECIPHERNPHP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNPHP1 
Mutations
ICGC Data PortalNPHP1 
TCGA Data PortalNPHP1 
Broad Tumor PortalNPHP1
OASIS PortalNPHP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPHP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNPHP1
Mutations and Diseases : HGMDNPHP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaNPHP1
DgiDB (Drug Gene Interaction Database)NPHP1
DoCM (Curated mutations)NPHP1
CIViC (Clinical Interpretations of Variants in Cancer)NPHP1
Cancer3DNPHP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM256100    266900    607100    609583   
Orphanet2824    3244    18917    12427   
DisGeNETNPHP1
MedgenNPHP1
Genetic Testing Registry NPHP1
NextProtO15259 [Medical]
GENETestsNPHP1
Target ValidationNPHP1
Huge Navigator NPHP1 [HugePedia]
ClinGenNPHP1
Clinical trials, drugs, therapy
MyCancerGenomeNPHP1
Protein Interactions : CTDNPHP1
Pharm GKB GenePA31706
PharosO15259
Clinical trialNPHP1
Miscellaneous
canSAR (ICR)NPHP1
HarmonizomeNPHP1
DataMed IndexNPHP1
Probes
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNPHP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:23:09 CEST 2021

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