Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NPHP3-ACAD11 Gene

Subcategory (RNA class) for NPHP3-ACAD11 Gene

ncRNA

Quality Score for this RNA gene is

3

Aliases for NPHP3-ACAD11 Gene

  • NPHP3-ACAD11 Readthrough (NMD Candidate) 2 3
  • KIAA2000 4
  • NPHP3 4

External Ids for NPHP3-ACAD11 Gene

Previous GeneCards Identifiers for NPHP3-ACAD11 Gene

  • GC03U901738
  • GC03M132278

Summaries for NPHP3-ACAD11 Gene

Entrez Gene Summary for NPHP3-ACAD11 Gene

  • This locus represents naturally occurring read-through transcription between the neighboring NPHP3 (nephronophthisis 3, adolescent) and ACAD11 (acyl-CoA dehydrogenase family, member 11) genes on chromosome 3. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]

GeneCards Summary for NPHP3-ACAD11 Gene

NPHP3-ACAD11 (NPHP3-ACAD11 Readthrough (NMD Candidate)) is an RNA Gene, and is affiliated with the ncRNA class. Diseases associated with NPHP3-ACAD11 include nephronophthisis 3 and renal-hepatic-pancreatic dysplasia 1.

UniProtKB/Swiss-Prot for NPHP3-ACAD11 Gene

  • Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPHP3-ACAD11 Gene

Genomics for NPHP3-ACAD11 Gene

Genomic Location for NPHP3-ACAD11 Gene

Chromosome:
3
Start:
132,558,138 bp from pter
End:
132,722,459 bp from pter
Size:
164,322 bases
Orientation:
Minus strand

Genomic View for NPHP3-ACAD11 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NPHP3-ACAD11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPHP3-ACAD11 Gene

No data available for Regulatory Elements for NPHP3-ACAD11 Gene

Proteins for NPHP3-ACAD11 Gene

  • Protein details for NPHP3-ACAD11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z494-NPHP3_HUMAN
    Recommended name:
    Nephrocystin-3
    Protein Accession:
    Q7Z494
    Secondary Accessions:
    • Q5JPE3
    • Q5JPE6
    • Q68D99
    • Q6NVH3
    • Q7Z492
    • Q7Z493
    • Q8N9R2
    • Q8NCM5
    • Q96N70
    • Q96NK2

    Protein attributes for NPHP3-ACAD11 Gene

    Size:
    1330 amino acids
    Molecular mass:
    150864 Da
    Quaternary structure:
    • Interacts with NPHP1 and INVS/NPHP2. Interacts (when myristoylated) with UNC119 and UNC119B; interaction is required for localization to cilium. Interacts with CEP164. Component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme.
    • Interacts with NPHP1 and INVS/NPHP2. Interacts (when myristoylated) with UNC119 and UNC119B; interaction is required for localization to cilium. Interacts with CEP164. Component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme.
    SequenceCaution:
    • Sequence=BAB70891.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC02709.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC04268.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for NPHP3-ACAD11 Gene

neXtProt entry for NPHP3-ACAD11 Gene

Proteomics data for NPHP3-ACAD11 Gene at MOPED

Post-translational modifications for NPHP3-ACAD11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NPHP3-ACAD11 Gene

No data available for DME Specific Peptides for NPHP3-ACAD11 Gene

Domains & Families for NPHP3-ACAD11 Gene

Protein Domains for NPHP3-ACAD11 Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z494

UniProtKB/Swiss-Prot:

NPHP3_HUMAN :
  • Contains 11 TPR repeats.
Similarity:
  • Contains 11 TPR repeats.
genes like me logo Genes that share domains with NPHP3-ACAD11: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for NPHP3-ACAD11 Gene

Function for NPHP3-ACAD11 Gene

Molecular function for NPHP3-ACAD11 Gene

UniProtKB/Swiss-Prot Function:
Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.

Gene Ontology (GO) - Molecular Function for NPHP3-ACAD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with NPHP3-ACAD11: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NPHP3-ACAD11 Gene

Localization for NPHP3-ACAD11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPHP3-ACAD11 Gene

Cell projection, cilium. Note=Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.

Gene Ontology (GO) - Cellular Components for NPHP3-ACAD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol --
GO:0005929 cilium --
GO:0072372 primary cilium --
genes like me logo Genes that share ontologies with NPHP3-ACAD11: view

No data available for Subcellular locations from COMPARTMENTS for NPHP3-ACAD11 Gene

Pathways & Interactions for NPHP3-ACAD11 Gene

SuperPathways for NPHP3-ACAD11 Gene

No Data Available

Interacting Proteins for NPHP3-ACAD11 Gene

Selected Interacting proteins: Q7Z494-NPHP3_HUMAN for NPHP3-ACAD11 Gene via MINT I2D UniProtKB

Gene Ontology (GO) - Biological Process for NPHP3-ACAD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development --
GO:0001947 heart looping --
GO:0003283 atrial septum development --
GO:0006996 organelle organization --
GO:0007368 determination of left/right symmetry --
genes like me logo Genes that share ontologies with NPHP3-ACAD11: view

No data available for Pathways by source and SIGNOR curated interactions for NPHP3-ACAD11 Gene

Drugs & Compounds for NPHP3-ACAD11 Gene

No Compound Related Data Available

Transcripts for NPHP3-ACAD11 Gene

mRNA/cDNA for NPHP3-ACAD11 Gene

(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for NPHP3-ACAD11 Gene

No ASD Table

Relevant External Links for NPHP3-ACAD11 Gene

GeneLoc Exon Structure for
NPHP3-ACAD11
ECgene alternative splicing isoforms for
NPHP3-ACAD11

Expression for NPHP3-ACAD11 Gene

mRNA Expression by UniProt/SwissProt for NPHP3-ACAD11 Gene

Q7Z494-NPHP3_HUMAN
Tissue specificity: Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung.

Primer Products

In Situ Assay Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for NPHP3-ACAD11 Gene

Orthologs for NPHP3-ACAD11 Gene

Evolution for NPHP3-ACAD11 Gene

ENSEMBL:
Gene Tree for NPHP3-ACAD11 (if available)
TreeFam:
Gene Tree for NPHP3-ACAD11 (if available)

No data available for Orthologs for NPHP3-ACAD11 Gene

Paralogs for NPHP3-ACAD11 Gene

No data available for Paralogs for NPHP3-ACAD11 Gene

Variants for NPHP3-ACAD11 Gene

Sequence variations from dbSNP and Humsavar for NPHP3-ACAD11 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs7340563 -- 132,679,742(+) TAAAT(G/T)ACTTG intron-variant
rs16839512 -- 132,679,969(+) CACTA(C/T)AGTGC intron-variant
rs58245704 -- 132,679,168(+) GAGGC(G/T)GAGGC intron-variant
rs62292465 -- 132,678,948(+) CCCAG(C/G)CAAGA intron-variant
rs111510101 -- 132,679,715(+) AAACC(A/G)AACAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NPHP3-ACAD11 Gene

Variant ID Type Subtype PubMed ID
nsv829728 CNV Gain 17160897
esv2675190 CNV Deletion 23128226
esv2669271 CNV Deletion 23128226
nsv4014 CNV Insertion 18451855

Relevant External Links for NPHP3-ACAD11 Gene

HapMap Linkage Disequilibrium report
NPHP3-ACAD11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NPHP3-ACAD11 Gene

Disorders for NPHP3-ACAD11 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NPHP3-ACAD11 Gene - From: GeneCards

Disorder Aliases PubMed IDs
nephronophthisis 3
  • adolescent nephronophthisis
renal-hepatic-pancreatic dysplasia 1
  • rhpd
meckel syndrome 7
  • dandy-walker cyst with renal-hepatic-pancreatic dysplasia
renal-hepatic-pancreatic dysplasia
  • ivemark's syndrome
encephalocele
  • bifid cranium
- elite association

UniProtKB/Swiss-Prot

NPHP3_HUMAN
  • Meckel syndrome 7 (MKS7) [MIM:267010]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269 PubMed:18371931}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nephronophthisis 3 (NPHP3) [MIM:604387]: An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction. {ECO:0000269 PubMed:12872122}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Renal-hepatic-pancreatic dysplasia 1 (RHPD1) [MIM:208540]: A disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates. {ECO:0000269 PubMed:18371931}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NPHP3-ACAD11

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NPHP3-ACAD11
genes like me logo Genes that share disorders with NPHP3-ACAD11: view

No data available for Genatlas for NPHP3-ACAD11 Gene

Publications for NPHP3-ACAD11 Gene

  1. Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. (PMID: 23418306) Frank V. … Bergmann C. (Hum. Mol. Genet. 2013) 67
  2. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. (PMID: 23793029) Hoff S. … Lienkamp S.S. (Nat. Genet. 2013) 67
  3. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. (PMID: 22863007) Chaki M. … Hildebrandt F. (Cell 2012) 67
  4. An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. (PMID: 22085962) Wright K.J. … Jackson P.K. (Genes Dev. 2011) 67
  5. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T. … Taylor T.D. (PLoS ONE 2010) 67

Products for NPHP3-ACAD11 Gene

Sources for NPHP3-ACAD11 Gene

Back to Top

Content