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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 5

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. An important paralog of this gene is NPHP3.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPHP3-ACAD11 Gene

Genomics for NPHP3-ACAD11 Gene

Regulatory Elements for NPHP3-ACAD11 Gene

Enhancers for NPHP3-ACAD11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G132721 1 ENCODE 0.7 -0.2 -221 2.8 HDGF ATF1 ARID4B SIN3A BRCA1 ZNF48 YY1 ETS1 ZNF121 GLIS2 NPHP3 NPHP3-ACAD11 LOC105374115
GH03G132726 0.7 ENCODE 0.7 -4.1 -4053 0.2 CTCF ZNF654 TEAD1 TEAD4 TRIM22 TEAD2 RAD21 RFX5 TEAD3 SMC3 NPHP3 NPHP3-ACAD11 LOC105374115
GH03G132731 0.6 ENCODE 0.4 -8.8 -8833 0.1 CTCF ZNF654 SMC3 FEZF1 REST RAD21 BFSP2 TFP1 TOPBP1 NPHP3-ACAD11 NPHP3 LOC105374115
GH03G132787 0.9 Ensembl ENCODE 0.2 -65.7 -65698 1.8 FOXA2 CEBPB CEBPG ATF2 ZNF766 ZNF589 JUND ATF3 FOXJ2 TRIM24 NPHP3 LOC105374115 NPHP3-ACAD11
GH03G132803 0.5 ENCODE 0.2 -82.1 -82088 1.8 CTCF GATA3 GATA2 ZSCAN29 RAD21 NPHP3 LOC105374115 NPHP3-ACAD11
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NPHP3-ACAD11 on UCSC Golden Path with GeneCards custom track

Promoters for NPHP3-ACAD11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000158546 259 2401 HDGF ATF1 ARID4B SIN3A BRCA1 ZNF48 YY1 ETS1 ZNF121 ELK1

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

Genes around NPHP3-ACAD11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPHP3-ACAD11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPHP3-ACAD11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPHP3-ACAD11 Gene

Proteins for NPHP3-ACAD11 Gene

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

    Protein Symbol:
    A0A0J9YXS1
    Recommended name:
    NPHP3-ACAD11 readthrough (NMD candidate)
    Protein Accession:
    A0A0J9YXS1

    Protein attributes for NPHP3-ACAD11 Gene

    Size:
    232 amino acids
    Molecular mass:
    26042 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NPHP3-ACAD11 Gene

Post-translational modifications for NPHP3-ACAD11 Gene

No Post-translational modifications

Other Protein References for NPHP3-ACAD11 Gene

ENSEMBL proteins:

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

genes like me logo Genes that share domains with NPHP3-ACAD11: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for NPHP3-ACAD11 Gene

Function for NPHP3-ACAD11 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NPHP3-ACAD11 Gene

Localization for NPHP3-ACAD11 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005871 kinesin complex IEA --
genes like me logo Genes that share ontologies with NPHP3-ACAD11: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and 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

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

None

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

(2) 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

No Expression Related Data Available

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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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

Paralogs for NPHP3-ACAD11 Gene

genes like me logo Genes that share paralogs with NPHP3-ACAD11: view

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
rs114925667 Pathogenic 132,675,903(+) CAGTG(A/G/T)CATAC intron-variant, nc-transcript-variant, reference, missense
rs119456959 Pathogenic 132,682,077(-) AGGAG(-/GAG)ATTTT nc-transcript-variant, cds-indel
rs119456960 Pathogenic 132,713,165(-) GAAAA(C/G)TTCTT nc-transcript-variant, reference, missense
rs119456961 Pathogenic 132,704,341(-) ACTTG(G/T)AGACT nc-transcript-variant, reference, stop-gained
rs119456962 Pathogenic 132,700,348(-) TTAAA(C/T)GACTA nc-transcript-variant, reference, stop-gained

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

Variant ID Type Subtype PubMed ID
esv2669271 CNV deletion 23128226
esv2675190 CNV deletion 23128226
esv3569006 CNV loss 25503493
esv3597827 CNV loss 21293372
esv3597828 CNV loss 21293372
esv3893774 CNV loss 25118596
nsv1073681 CNV deletion 25765185
nsv1109545 CNV deletion 24896259
nsv1110768 CNV insertion 24896259
nsv1133563 CNV deletion 24896259
nsv1144051 CNV deletion 24896259
nsv1150596 CNV duplication 26484159
nsv4014 CNV insertion 18451855
nsv591796 CNV loss 21841781
nsv591797 CNV loss 21841781
nsv591798 CNV loss 21841781
nsv591799 CNV gain 21841781
nsv829728 CNV gain 17160897
nsv965409 CNV deletion 23825009
nsv979879 CNV duplication 23825009
nsv998211 CNV loss 25217958

Relevant External Links for NPHP3-ACAD11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

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

Disorder Aliases PubMed IDs
nephronophthisis 3
  • nph3
- elite association - COSMIC cancer census association via MalaCards

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 UniProtKB/Swiss-Prot and Genatlas for NPHP3-ACAD11 Gene

Publications for NPHP3-ACAD11 Gene

  1. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T. … Taylor T.D. (PLoS ONE 2010) 3 64
  2. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. (PMID: 12872122) Olbrich H. … Omran H. (Nat. Genet. 2003) 3 64
  3. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PMID: 12056414) Ohara O. … Koseki H. (DNA Res. 2002) 3 64

Products for NPHP3-ACAD11 Gene

Sources for NPHP3-ACAD11 Gene

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