Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



NPHP1 Gene

protein-coding   GIFtS: 58
GCID: GC02M110879

Nephronophthisis 1 (Juvenile)


(Previous symbol: NPH1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Nephronophthisis 1 (Juvenile)1 2     JBTS42 5
NPH11 2 3 5     SLSN12 5
nephrocystin-11 2     Nephrocystin 12
Juvenile Nephronophthisis 1 Protein2 3     

External Ids:    HGNC: 79051   Entrez Gene: 48672   Ensembl: ENSG000001440617   OMIM: 6071005   UniProtKB: O152593   

Export aliases for NPHP1 gene to outside databases

Previous GC identifers: GC02M108543 GC02M109144 GC02M110427 GC02M110616 GC02M110237 GC02M104021


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for NPHP1 Gene:
This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated
substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix
adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based
structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving
both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also
referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease,
and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor
delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for NPHP1 Gene:
NPHP1 (nephronophthisis 1 (juvenile)) is a protein-coding gene. Diseases associated with NPHP1 include nephronophthisis, and joubert syndrome with renal anomalies. GO annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot: NPHP1_HUMAN, O15259
Function: Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the
organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not
seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix
adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role
in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina
development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and
WDR19. Involved in spermatogenesis (By similarity)

Gene Wiki entry for NPHP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NPHP1 gene promoter:
         HTF   XBP-1   IRF-1   LCR-F1   E47   CREB   Nkx6-1   SEF-1 (1)   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPHP1 promoter sequence
   Search Chromatin IP Primers for NPHP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NPHP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q13   Ensembl cytogenetic band:  2q13   HGNC cytogenetic band: 2q13

NPHP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPHP1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M110879:  view genomic region     (about GC identifiers)

Start:
110,879,888 bp from pter      End:
110,962,643 bp from pter
Size:
82,756 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: NPHP1_HUMAN, O15259 (See protein sequence)
Recommended Name: Nephrocystin-1  
Size: 732 amino acids; 83299 Da
Subunit: Interacts with BCAR1, PTK2B/PYK2 and tensin. Interacts with INVS and NPHP3. Interacts with PACS1; the
interaction is dependent on NPHP1 phosphorylation by CK2. Interacts with KIF7. Interacts with AHI1 and TNK2.
Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L. Interacts with IQCB1; the interaction
likely requires additional interactors
Developmental stage: During in vitro ciliogenesis translocalizes from the cytoplasm to the ciliary transition zone
during epithelial cell polarization
Miscellaneous: Nephronophthisis type 1 patients deficient for NPHP1 show normal overall integrity of respiratory
cilia
1 PDB 3D structure from and Proteopedia for NPHP1:
1S1N (3D)    
Secondary accessions: O14837
Alternative splicing: 4 isoforms:  O15259-1   O15259-2   O15259-3   O15259-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NPHP1: NX_O15259

Explore proteomics data for NPHP1 at MOPED

Post-translational modifications: 

  • Phosphorylation by CK2 is required for the interaction with PACS1 and the targeting to the base region of cilia1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NPHP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000263.2  NP_001121650.1  NP_001121651.1  NP_997064.2  

    ENSEMBL proteins: 
     ENSP00000313169   ENSP00000389879   ENSP00000376953   ENSP00000347452   ENSP00000402176  
     ENSP00000392562   ENSP00000412351   ENSP00000406453  

    NPHP1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NPHP1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for NPHP1
    GenScript Custom Purified and Recombinant Proteins Services for NPHP1
    Novus Biologicals NPHP1 Proteins
    Novus Biologicals NPHP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NPHP1

    NPHP1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for NPHP1
    Novus Biologicals NPHP1 Antibodies
    Abcam antibodies for NPHP1
    Cloud-Clone Corp. Antibodies for NPHP1
    Search ThermoFisher Antibodies for NPHP1
    LSBio Antibodies in human, mouse, rat for NPHP1

    NPHP1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NPHP1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NPHP1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NPHP1
    Cloud-Clone Corp. CLIAs for NPHP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry O15259

    ProtoNet protein and cluster: O15259

    1 Blocks protein domain: IPB001452 SH3 domain signature

    UniProtKB/Swiss-Prot: NPHP1_HUMAN, O15259
    Domain: The SH3 domain mediates the stable interaction with Cas (By similarity)
    Similarity: Belongs to the nephrocystin-1 family
    Similarity: Contains 1 SH3 domain


    NPHP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NPHP1_HUMAN, O15259
    Function: Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the
    organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not
    seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix
    adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role
    in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina
    development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and
    WDR19. Involved in spermatogenesis (By similarity)

         Genatlas biochemistry entry for NPHP1:
    gene of unknown function,maybe a component of tubular basal membrane

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS12006559
    GO:0005515protein binding IPI12244321
         
    NPHP1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NPHP1:
     Increased cell number in G2M,   Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nphp1):
     endocrine/exocrine gland  no phenotypic analysis  renal/urinary system  reproductive system  vision/eye 

    NPHP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NPHP1: Nphp1tm1.1Hung Nphp1tm1Jgg

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPHP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPHP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPHP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPHP1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat NPHP1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate NPHP1
    SwitchGear 3'UTR luciferase reporter plasmidNPHP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NPHP1
    Predesigned siRNA for gene silencing in human, mouse, rat NPHP1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NPHP1

    Clone
    Products:
         
    OriGene clones in human, mouse for NPHP1 (see all 27)
    OriGene ORF clones in mouse, rat for NPHP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): NPHP1 (NM_207181)
    Sino Biological Human cDNA Clone for NPHP1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPHP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPHP1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NPHP1
    Browse ESI BIO Cell Lines and PureStem Progenitors for NPHP1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPHP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    NPHP1_HUMAN, O15259: Cell junction, adherens junction (By similarity). Cell projection, cilium. Cytoplasm,
    cytoskeleton, cilium axoneme. Cell junction, tight junction. Note=Colocalizes with E-cadherin and BCAR1 at or
    near the cell-cell adherens junctions (By similarity). Localized to respiratory cilia axoneme. Localized to the
    transition zone of respiratory cilia, photoreceptor-connecting cilia and renal monocilia. In cultured renal
    cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral
    tight junctions
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    nucleus2
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005911cell-cell junction IDA--
    GO:0005912adherens junction IEA--
    GO:0005923tight junction IEA--

    NPHP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus




        Pathway & Disease-focused RT2 Profiler PCR Array including NPHP1: 
              Primary Cilia in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NPHP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for NPHP1 (O152591, 2, 3 ENSP000003131694) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADAM15Q134441, 2, 3, ENSP000003494364EBI-953828,EBI-77818 MINT-2792990 MINT-2792478 I2D: score=2 STRING: ENSP00000349436
    PKD1P981611, 2, 3, ENSP000002623044EBI-953828,EBI-1752013 MINT-8109642 MINT-8109661 I2D: score=1 STRING: ENSP00000262304
    ASAP1Q9ULH12, 3, ENSP000003502974MINT-7145706 I2D: score=1 STRING: ENSP00000350297
    MED28Q9H2042, 3, ENSP000002373804MINT-7041785 I2D: score=1 STRING: ENSP00000237380
    ENSG00000232575P074373, ENSP000004100714I2D: score=1 STRING: ENSP00000410071
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction NAS12244321
    GO:0007588excretion TAS9361039
    GO:0007632visual behavior NAS12205563
    GO:0016337cell-cell adhesion NAS12006559
    GO:0030030cell projection organization ISS--

    NPHP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NPHP1

    2 Novoseek inferred chemical compound relationships for NPHP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pemoline 65.2 9 11371609 (6), 10845454 (2)
    tyrosine 0 1 11493697 (1)



    NPHP1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for NPHP1 gene (4 alternative transcripts): 
    NM_000272.3  NM_001128178.1  NM_001128179.1  NM_207181.2  

    Unigene Cluster for NPHP1:

    Nephronophthisis 1 (juvenile)
    Hs.280388  [show with all ESTs]
    Unigene Representative Sequence: AF023674
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000316534 ENST00000445609 ENST00000393272(uc002tfm.4 uc002tfl.4 uc002tfn.4 uc002tfo.4 uc010ywx.2 uc010fjv.1 uc021vme.1)
    ENST00000496524 ENST00000461707 ENST00000355301 ENST00000417665 ENST00000422492
    ENST00000493051 ENST00000418527 ENST00000449600
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NPHP1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate NPHP1
    SwitchGear 3'UTR luciferase reporter plasmidNPHP1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NPHP1
    Predesigned siRNA for gene silencing in human, mouse, rat NPHP1
    Clone
    Products:
         
    OriGene clones in human, mouse for NPHP1 (see all 27)
    OriGene ORF clones in mouse, rat for NPHP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): NPHP1 (NM_207181)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPHP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPHP1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NPHP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPHP1
      QuantiTect SYBR Green Assays in human, mouse, rat NPHP1
      QuantiFast Probe-based Assays in human, mouse, rat NPHP1

    Additional mRNA sequence: 

    AF023674.1 AJ001815.1 AK225600.1 AK299011.1 AK307654.1 BC062574.1 

    11 DOTS entries:

    DT.412830  DT.95365517  DT.92004288  DT.95332128  DT.70105308  DT.92051830  DT.95091345  DT.97825741 
    DT.95365516  DT.100742309  DT.91743366 

    Selected AceView cDNA sequences (see all 71):

    BG677160 AA609854 BU689802 AI800360 N99115 NM_207181 BE467874 BC062574 
    AL079574 BQ182594 BM700307 NM_000272 AI863603 AA400345 BI759629 BE465333 
    BM970238 BM670494 T25861 AA400187 BQ189358 AA405605 BU620413 AA507044 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    NPHP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACCTTTTGA
    NPHP1 Expression
    About this image


    NPHP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Eye (Sensory Organs)
             Retina
     
     Ovary (Reproductive System)
     
     Testis (Reproductive System)
    NPHP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPHP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.280388

    UniProtKB/Swiss-Prot: NPHP1_HUMAN, O15259
    Tissue specificity: Widespread expression, with highest levels in pituitary gland, spinal cord, thyroid gland,
    testis, skeletal muscle, lymph node and trachea. Weakly expressed in heart, kidney and pancreas. Expressed in
    nasal epithelial cells (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including NPHP1: 
              Primary Cilia in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NPHP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPHP1
    QuantiTect SYBR Green Assays in human, mouse, rat NPHP1
    QuantiFast Probe-based Assays in human, mouse, rat NPHP1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPHP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for NPHP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nphp11 , 5 nephronophthisis 1 (juvenile) homolog (human)1, 5 79.39(n)1
    78.99(a)1
      2 (62.09 cM)5
    538851  NM_016902.31  NP_058598.11 
     1277407325 
    chicken
    (Gallus gallus)
    Aves NPHP11 nephronophthisis 1 (juvenile) 67.57(n)
    61.62(a)
      421223  NM_001199429.1  NP_001186358.1 
    lizard
    (Anolis carolinensis)
    Reptilia NPHP16
    nephronophthisis 1 (juvenile)
    63(a)
    1 ↔ 1
    GL343727.1(111975-149293)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.99552 Xenopus laevis transcribed sequence with weak similarity more 76.11(n)    BM262616.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nphp11 nephronophthisis 1 56.98(n)
    49.3(a)
      100002391  NM_001077170.1  NP_001070638.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nphp-16
    Protein NPHP-1 (nphp-1) mRNA, complete cds
    21(a)
    1 ↔ 1
    II(10648938-10652256) WBGene00010898


    ENSEMBL Gene Tree for NPHP1 (if available)
    TreeFam Gene Tree for NPHP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for NPHP1 gene
    1 SIMAP similar gene for NPHP1 using alignment to 5 protein entries:     NPHP1_HUMAN (see all proteins):
    DKFZp686L12109

    NPHP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for NPHP1 (see all 1426)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219078991,2,,4
    CNephronophthisis 1 (NPHP1)4 pathogenic1110426066(-) AGGAAA/GGTAAT 8 R G mis10--------
    rs1142574311,2
    C,F--110385899(+) TATACA/GTGGTA 4 -- ds50011Minor allele frequency- G:0.03WA 118
    rs739546121,2
    C,F--110385985(+) TCTTCG/AGCGGT 4 -- ds50012Minor allele frequency- A:0.18WA 120
    rs739546131,2
    C--110386084(+) ATTAAC/TGCAGG 4 -- ds50012Minor allele frequency- T:0.18WA 120
    rs133998501,2
    C,F,H--110386236(+) CAGAGC/TACTTA 4 -- ds5001 ese34Minor allele frequency- T:0.00NS EA 416
    rs1418013431,2
    C--110386270(+) AGCGAC/TTCTGT 4 -- ds50010--------
    rs1143934081,2
    C,F--110386306(+) ACATTC/TAAGTA 4 -- ds50011Minor allele frequency- T:0.02WA 118
    rs1505586831,2
    --110386558(+) AAGTAA/GCTGTT 4 -- ut310--------
    rs1399017001,2
    --110386602(+) TAACAC/GTATTC 4 -- ut310--------
    rs1894727931,2
    --110386614(+) TTATAA/GAAATT 4 -- ut310--------

    HapMap Linkage Disequilibrium report for NPHP1 (110879888 - 110962643 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NPHP1 (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663887CNV Deletion23128226
    nsv458984CNV Loss19166990
    nsv458973CNV Loss19166990
    esv33999CNV Loss18971310
    dgv472n27CNV Loss19166990
    dgv154e55CNV Loss17911159
    nsv818076CNV Loss17921354
    nsv458751CNV Loss19166990
    nsv2875CNV Loss18451855
    esv2751812CNV Loss17911159

    Human Gene Mutation Database (HGMD): NPHP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NPHP1
    DNA2.0 Custom Variant and Variant Library Synthesis for NPHP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 607100   
    OMIM disorders: 256100  266900  609583  
    UniProtKB/Swiss-Prot: NPHP1_HUMAN, O15259
  • Nephronophthisis 1 (NPHP1) [MIM:256100]: An autosomal recessive inherited disease characterized by
    anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving
    both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with
    characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal
    symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Senior-Loken syndrome 1 (SLSN1) [MIM:266900]: A renal-retinal disorder characterized by progressive
    wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease,
    and progressive eye disease. Typically this disorder becomes apparent during the first year of life. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Joubert syndrome 4 (JBTS4) [MIM:609583]: A disorder presenting with cerebellar ataxia, oculomotor
    apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is
    characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles,
    and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar
    tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 4 is
    a phenotypically mild form. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for NPHP1 (see all 47):    
    About MalaCards
    nephronophthisis    joubert syndrome with renal anomalies    nphp1-related joubert syndrome    pontine tegmental cap dysplasia
    nephronophthisis 1    senior-loken syndrome 1    nephronophthisis 1, juvenile    senior-loken syndrome
    nephronophthisis 4    apraxia    juvenile autosomal recessive medullary cystic kidney disease    cystic kidney
    eye disease    joubert syndrome and related disorders    familial juvenile hyperuricemic nephropathy    was-related disorders
    doid:4019    joubert syndrome    cerebellar ataxia    polymicrogyria

    9 diseases from the University of Copenhagen DISEASES database for NPHP1:
    Nephronophthisis     Cystic kidney     Kidney failure     Familial juvenile hyperuricemic nephropathy
    Apraxia     DOID:4019     Retinitis pigmentosa     Fundus dystrophy
    Situs inversus

    NPHP1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for NPHP1 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nphp1 99.4 150 17409309 (10), 15138899 (6), 10980528 (5), 10712196 (5) (see all 57)
    nphp2 97.8 7 17855640 (1), 18076122 (1), 18607645 (1), 11261687 (1) (see all 6)
    cystic kidney disease 94.4 9 16308564 (1), 10739664 (1), 19118152 (1), 17513324 (1) (see all 6)
    apraxia motor 82.2 1 10839884 (1)
    renal failure chronic 73.6 2 15723349 (1), 16782989 (1)
    retinitis pigmentosa 69.3 1 16900087 (1)
    renal fibrosis 68.5 1 15661758 (1)
    retinal degeneration 67.6 2 16885411 (1)
    renal disease 66.3 4 16900087 (1), 15723349 (1), 8825638 (1), 15661758 (1)
    renal failure 54.6 4 8995741 (1), 16885411 (1), 19208653 (1)

    Genatlas disease: NPHP1
    nephronophthisis,juvenile,autosomal recessive,characterized by progressive insidious polyuria due to reduced
    urinary concentrating ability preceding the decline of renal function and associated with an irregularly
    thickened tubular basement membrane (TBM) and focal interstitial fibrosis and later diffuse tubular-intersitial
    changes and medullary cystis,leading to renal failure and death in childhood unless treated with dialysis or
    renal transplantation

    GeneTests: NPHP1
    GeneReviews: NPHP1
    Genetic Association Database (GAD): NPHP1
    Human Genome Epidemiology (HuGE) Navigator: NPHP1 (7 documents)

    Export disorders for NPHP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for NPHP1 gene, integrated from 10 sources (see all 118):
    (articles sorted by number of sources associating them with NPHP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. (PubMed id 15138899)1, 2, 4, 9 Parisi M.A.... Glass I.A. (Am. J. Hum. Genet. 2004)
    2. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. (PubMed id 17409309)1, 4, 9 Tory K....Saunier S. (J. Am. Soc. Nephrol. 2007)
    3. Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. (PubMed id 16885411)1, 2, 9 Fliegauf M.... Omran H. (J. Am. Soc. Nephrol. 2006)
    4. Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. (PubMed id 16308564)1, 2, 9 Schermer B.... Benzing T. (EMBO J. 2005)
    5. Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct. (PubMed id 18477472)1, 2, 9 Eley L.... Sayer J.A. (Biochem. Biophys. Res. Commun. 2008)
    6. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. (PubMed id 12872123)1, 2, 9 Otto E.A.... Hildebrandt F. (Nat. Genet. 2003)
    7. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. (PubMed id 12244321)1, 2, 9 Mollet G....Saunier S. (Nat. Genet. 2002)
    8. Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. (PubMed id 10839884)1, 2, 9 Betz R....Hildebrandt F. (J. Pediatr. 2000)
    9. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. (PubMed id 18633336)1, 2, 9 Eley L....Sayer J.A. (Kidney Int. 2008)
    10. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. (PubMed id 9326933)1, 2, 9 Hildebrandt F.... Brandis M. (Nat. Genet. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 4867 HGNC: 7905 AceView: NPHP1 Ensembl:ENSG00000144061 euGenes: HUgn4867
    ECgene: NPHP1 H-InvDB: NPHP1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for NPHP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NPHP1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for NPHP1 gene:
    Search GeneIP for patents involving NPHP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for NPHP1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for NPHP1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for NPHP1  
     OriGene qSTAR qPCR primer pairs in human, mouse for NPHP1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for NPHP1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NPHP1   OriGene Custom Protein Services for NPHP1  

     
     
     Block miRNA regulation of human, mouse, rat NPHP1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing NPHP1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NPHP1 Predesigned siRNA for gene silencing in human, mouse, rat NPHP1
     QuantiFast Probe-based Assays in human, mouse, rat NPHP1 QuantiTect SYBR Green Assays in human, mouse, rat NPHP1
     PCR Arrays including human, mouse, rat NPHP1 Search Chromatin IP Primers for NPHP1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPHP1  GeneGlobe Interaction Network for NPHP1
     Regulatory tfbs in NPHP1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for NPHP1 GenScript cDNA clones with any tag delivered in your preferred vector for NPHP1
     GenScript Custom Assay Services for NPHP1 GenScript Custom overexpressing Cell Line Services for NPHP1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for NPHP1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for NPHP1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     NPHP1 antibodies
     NPHP1 proteins
     NPHP1 lysates
     Antibodies for NPHP1
     See all of Abcam's Antibodies, Kits and Proteins for NPHP1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for NPHP1
     Antibodies for NPHP1
     ELISAs for NPHP1
     CLIAs for NPHP1



     Browse ESI BIO Cell Lines and PureStem Progenitors for NPHP1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPHP1
     SwitchGear 3'UTR luciferase reporter plasmids for NPHP1
     SwitchGear Promoter luciferase reporter plasmids for NPHP1
     Search ThermoFisher Antibodies for NPHP1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPHP1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPHP1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPHP1
     LSBio Antibodies in human, mouse, rat for NPHP1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      NPHP1 gene at Home site.
    Version: 3.12.164 25 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4