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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NPHP1 Gene

protein-coding   GIFtS: 57
GCID: GC02M110879

nephronophthisis 1 (juvenile)


(Previous symbol: NPH1)
 Explore 46 diseases affiliated with
NPHP1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NPHP1    

Aliases
for NPHP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Nephronophthisis 1 (Juvenile)1 2     SLSN12 5
NPH11 2 3 5     Nephrocystin 12
JBTS41 2 5     Nephrocystin-11
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


Summaries
for NPHP1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NPHP1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022135.16  
Regulatory elements:
   SABiosciences 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 plasmid: NPHP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NPHP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for NPHP1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: 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
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

Post-translational modifications:

  • Phosphorylation by CK2 is required for the interaction with PACS1 and the targeting to the base region of cilia1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15259

    • NPHP1 Protein expression data from MOPED and PaxDb:    About this image 
    NPHP1 Protein Expression
    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  

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    Uscn Proteins for NPHP1

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

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

    NPHP1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for NPHP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NPHP1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry O15259

    ProtoNet protein and cluster: O15259

    1 Blocks protein family: 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


    Function
    for NPHP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS12006559
    GO:0005515protein binding IPI12872122
         
    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:
         Mouse knock-outs for NPHP1: Nphp1tm1.1Hung Nphp1tm1Jgg
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NPHP1 

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Pathways & Interactions
    for NPHP1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NPHP1

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

    5/25 Interacting proteins for NPHP1 (O152592, 3 ENSP000003131694) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADAM15Q134442, 3, ENSP000003494364MINT-2792990 MINT-2792478 I2D: score=2 STRING: ENSP00000349436
    PKD1P981612, 3, ENSP000002623044MINT-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
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2861336 I2D: score=3 STRING: ENSP00000357292
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (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



    Drugs & Compounds
    for NPHP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NPHP1 for compounds           About GeneDecksing

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    Browse Tocris compounds for NPHP1
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about NPHP1 

    Transcripts
    for NPHP1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 

    24/71 AceView cDNA sequences (see all 71):

    BG677160 BM670494 BM700307 BQ189358 AA400187 T25861 AA400345 AA405605 
    AI863603 NM_000272 AL079574 BI759629 BE465333 BU689802 BC062574 BQ182594 
    AA609854 NM_207181 N99115 AI800360 BM970238 BE467874 AI433852 BU620132 

    GeneLoc Exon Structure


    Expression
    for NPHP1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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

    NPHP1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)

    See NPHP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NPHP1

    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)

        SABiosciences Expression via Pathway-Focused PCR Array including NPHP1: 
              Primary Cilia in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for NPHP1 gene

    (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
    This gene was present in the common ancestor of animals.

    Orthologs for NPHP1 gene from 6/17 species (see all 17)    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 78.27(n)1
    77.34(a)1    		   2 (62.09 cM)5
    538851  NM_016902.31  NP_058598.11 
     1277407325 
    chicken
    (Gallus gallus)    		 Aves NPHP11 nephronophthisis 1 (juvenile) 66.62(n)
    60.27(a)    		   421223  NM_001199429.1  NP_001186358.1 
    lizard
    (Anolis carolinensis)    		 Reptilia NPHP16
    		 --
    		 64(a)
    		 1 ↔ 1
    		 GL343727.1(111975-146576)
    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 57.09(n)
    50.23(a)    		   100002391  NM_001077170.1  NP_001070638.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea nphp-11 Protein NPHP-1 42.25(n)
    28.52(a)    		   174643  NM_063897.3  NP_496298.1 


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

    Paralogs
    for NPHP1 gene

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

    Genomic Variants
    for NPHP1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1185 NCBI SNPs in NPHP1 are shown (see all 1185)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219078991,2
    		Cpathogenic104060957(-) AGGAAA/GGTAAT 8 R G mis10--------
    rs1142574311,2
    		C,F--104020819(+) TATACA/GTGGTA 4 -- ds50011Minor allele frequency- G:0.03WA 118
    rs739546121,2
    		C--104020905(+) TCTTCG/AGCGGT 4 -- ds50012Minor allele frequency- A:0.18WA 120
    rs739546131,2
    		C--104021004(+) ATTAAC/TGCAGG 4 -- ds50012Minor allele frequency- T:0.18WA 120
    rs133998501,2
    		C,H--104021156(+) CAGAGC/TACTTA 4 -- ds5001 ese34Minor allele frequency- T:0.00NS EA 416
    rs1143934081,2
    		C,F--104021226(+) ACATTC/TAAGTA 4 -- ds50011Minor allele frequency- T:0.02WA 118
    rs793329921,2
    		--104022096(+) GGATGG/AAGGGT 4 -- int12Minor allele frequency- A:0.10CSA WA 120
    rs124702951,2
    		C,H--104022816(+) GTTTCC/TTAATT 4 -- int10--------
    rs2008709481,2
    		C--104023000(-) TAACAA/CAAAAG 4 -- int10--------
    rs101778221,2
    		C,F--104024067(+) TGAGTA/TAATAT 4 -- int12Minor allele frequency- T:0.08WA NA 238

    HapMap Linkage Disequilibrium report for NPHP1 (110879888 - 110962643 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 18 variations for NPHP1
         15/18 CNVs (see all 18): 8383 50251 53344 2404 50253 50256 53943 34511 53565 50254 8954 9960 48026 50255 8953
    Human Gene Mutation Database (HGMD): NPHP1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NPHP1
    DNA2.0 Custom Variant and Variant Library Synthesis for NPHP1

    Disorders / Diseases
    for NPHP1 gene

    (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
    NPHP1 for disorders           About GeneDecksing

    OMIM gene information: 607100   
    OMIM disorders: 256100  266900  609583  
    UniProtKB/Swiss-Prot: NPHP1_HUMAN, O15259
  • Defects in NPHP1 are the cause of nephronophthisis type 1 (NPHP1) [MIM:256100]; also known as familial
    • juvenile nephronophthisis 1. NPHP1 is 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
  • Defects in NPHP1 are the cause of Senior-Loken syndrome type 1 (SLSN1) [MIM:266900]; also known as juvenile
    • nephronophthisis with Leber amaurosis. SLSN is a renal-retinal disorder characterized by progressive wasting of the
    filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Typically
    this disorder becomes apparent during the first year of life
  • Defects in NPHP1 are the cause of Joubert syndrome type 4 (JBTS4) [MIM:609583]. JBTS is an autosomal recessive
    • 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. JBTS4 is a phenotypically mild form

    20/46 diseases for NPHP1 (see all 46):    About MalaCards
    senior-loken syndrome    nephronophthisis    oculomotor apraxia    nephronophthisis 1, juvenile
    nephronophthisis 1    joubert syndrome    apraxia    pontine tegmental cap dysplasia
    senior-loken syndrome 1    cerebellar ataxia    eye disease    cone-rod dystrophy
    familial juvenile hyperuricemic nephropathy    retinitis    ataxia    asphyxiating thoracic dystrophy
    situs inversus    nephronophthisis 4    joubert syndrome and related disorders    hyperuricemic nephropathy

    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

    10/11 Novoseek 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
    Joubert Syndrome

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

    Export disorders for NPHP1 gene to outside databases

    Publications
    for NPHP1 gene

    (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

    PubMed articles for NPHP1 gene, integrated from 9 sources (see all 113):
    (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. (2004)
    2. 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. (2006)
    3. 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. (2005)
    4. Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct. (PubMed id 18477472)1, 2, 9 Eley L....Sayer J.A. (2008)
    5. 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. (2003)
    6. 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. (2002)
    7. 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. (2000)
    8. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. (PubMed id 18633336)1, 2, 9 Eley L....Sayer J.A. (2008)
    9. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. (PubMed id 9326933)1, 2, 9 Hildebrandt F.... Brandis M. (1997)
    10. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. (PubMed id 12872122)1, 2, 9 Olbrich H.... Omran H. (2003)

    External Searches for NPHP1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    Genome Databases showing NPHP1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4867 HGNC: 7905 AceView: NPHP1 Ensembl:ENSG00000144061 euGenes: HUgn4867
    ECgene: NPHP1 H-InvDB: NPHP1

    Other Databases showing NPHP1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NPHP1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NPHP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NPHP1

    Intellectual Property
    for NPHP1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for NPHP1 gene:
    Search GeneIP for patents involving NPHP1

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