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Aliases for PKD1P1 Gene

Aliases for PKD1P1 Gene

  • Polycystin 1, Transient Receptor Potential Channel Interacting Pseudogene 1 2 3 5
  • Polycystic Kidney Disease 1 (Autosomal Dominant) Pseudogene 1 2 3
  • Nuclear Pore Complex-Interacting Protein 3
  • KIAA0220-Like Protein 3
  • NPIP-Like Protein 1 3
  • NPIP 3
  • HG1 3

External Ids for PKD1P1 Gene

Previous GeneCards Identifiers for PKD1P1 Gene

  • GC16P016331
  • GC16P016416
  • GC16P016370
  • GC16P016311
  • GC16P016411
  • GC16P016318
  • GC16P016321
  • GC16P016330
  • GC16P016336

Summaries for PKD1P1 Gene

GeneCards Summary for PKD1P1 Gene

PKD1P1 (Polycystin 1, Transient Receptor Potential Channel Interacting Pseudogene 1) is a Pseudogene. Diseases associated with PKD1P1 include Polycystic Kidney Disease 1, Autosomal Dominant and Kidney Disease.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKD1P1 Gene

Genomics for PKD1P1 Gene

Regulatory Elements for PKD1P1 Gene

Enhancers for PKD1P1 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
GH16F015970 1.6 FANTOM5 Ensembl ENCODE 29.6 -336.0 -336042 8.2 ZFP64 ETS1 CBX5 GATA2 ZNF143 FOS ZNF263 ZNF202 NFYC REST LOC100505915 PKD1P1 PKD1P6 ABCC1 RRN3 FOPNL NPIPA5 ENSG00000227827 NDE1 GC16P016010
GH16F015588 1.9 FANTOM5 Ensembl ENCODE 11.1 -719.0 -719019 5.4 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF548 ZNF263 SP3 TBX21 MEF2D BFAR ENSG00000263335 LOC100505915 RRN3 PKD1P6 RPL17P40 ENSG00000270734 LOC105371095 ENSG00000263029 NDE1
GH16F015992 1.7 FANTOM5 Ensembl ENCODE 12.2 -313.4 -313428 8.6 MLX SIN3A ARID4B DMAP1 SLC30A9 FOS SP5 MXD4 KAT8 MEF2D ABCC1 ENSG00000183889 PKD1P1 RNU6-213P FOPNL LOC100505915 ENSG00000227827 NPIPA5 PKD1P6 NDE1
GH16F015487 1.7 FANTOM5 Ensembl ENCODE 12.2 -819.2 -819168 7.6 ATF1 PKNOX1 ZNF133 ARID4B YBX1 BRCA1 YY1 ZNF121 FOS SP5 C16orf45 ENSG00000183889 ENSG00000183458 PKD1P1 NPIPA3 ENSG00000261819 LOC100505915 NPIPA5 ENSG00000227827 NPIPA2
GH16F015670 1.5 FANTOM5 ENCODE 12.2 -637.4 -637403 4.5 PKNOX1 MLX ZFP64 ARID4B FEZF1 DMAP1 YBX1 ZNF2 YY1 SLC30A9 ENSG00000263335 NDE1 KIAA0430 ENSG00000183889 MIR484 MIR6506 ENSG00000183458 PKD1P1 NPIPA3 ENSG00000261819
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PKD1P1 on UCSC Golden Path with GeneCards custom track

Promoters for PKD1P1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001800007 159 2201

Genomic Location for PKD1P1 Gene

16,310,341 bp from pter
16,350,608 bp from pter
40,268 bases
Plus strand

Genomic View for PKD1P1 Gene

Genes around PKD1P1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKD1P1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKD1P1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKD1P1 Gene

Proteins for PKD1P1 Gene

Post-translational modifications for PKD1P1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PKD1P1 Gene

Domains & Families for PKD1P1 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for PKD1P1 Gene

Function for PKD1P1 Gene

Phenotypes for PKD1P1 Gene

GenomeRNAi human phenotypes for PKD1P1:
genes like me logo Genes that share phenotypes with PKD1P1: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PKD1P1 Gene

Localization for PKD1P1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for PKD1P1 Gene

Pathways & Interactions for PKD1P1 Gene

SuperPathways for PKD1P1 Gene

No Data Available

Interacting Proteins for PKD1P1 Gene

Gene Ontology (GO) - Biological Process for PKD1P1 Gene


No data available for Pathways by source and SIGNOR curated interactions for PKD1P1 Gene

Transcripts for PKD1P1 Gene

mRNA/cDNA for PKD1P1 Gene

(11) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PKD1P1 Gene

Polycystic kidney disease 1 (autosomal dominant) pseudogene 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PKD1P1 Gene

No ASD Table

Relevant External Links for PKD1P1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PKD1P1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PKD1P1 Gene

mRNA differential expression in normal tissues according to GTEx for PKD1P1 Gene

This gene is overexpressed in Brain - Cerebellum (x4.8).

NURSA nuclear receptor signaling pathways regulating expression of PKD1P1 Gene:


SOURCE GeneReport for Unigene cluster for PKD1P1 Gene:

genes like me logo Genes that share expression patterns with PKD1P1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PKD1P1 Gene

Orthologs for PKD1P1 Gene

Evolution for PKD1P1 Gene

Gene Tree for PKD1P1 (if available)
Gene Tree for PKD1P1 (if available)

No data available for Orthologs for PKD1P1 Gene

Paralogs for PKD1P1 Gene

No data available for Paralogs for PKD1P1 Gene

Variants for PKD1P1 Gene

Sequence variations from dbSNP and Humsavar for PKD1P1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs111577321 -- 16,339,280(+) AGGAC(A/C)GTTTT intron-variant
rs112057529 -- 16,348,265(+) GAGAC(A/G)GGGTT intron-variant
rs11544590 -- 16,331,694(+) CTGCG(A/T)TCTCC nc-transcript-variant
rs13330040 -- 16,334,387(+) gcctc(C/T)tgagt intron-variant
rs13332472 -- 16,343,343(+) gcctc(A/G)gcctc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PKD1P1 Gene

Variant ID Type Subtype PubMed ID
nsv978034 CNV duplication 23825009
nsv977920 CNV duplication 23825009
nsv977919 CNV duplication 23825009
nsv952939 CNV deletion 24416366
nsv952938 CNV deletion 24416366
nsv820818 CNV deletion 20802225
nsv509599 CNV insertion 20534489
nsv457428 CNV gain 19166990
nsv435664 CNV deletion 17901297
nsv428319 CNV loss 18775914
nsv1746 CNV insertion 18451855
nsv1151531 CNV duplication 26484159
nsv1141279 CNV duplication 24896259
nsv1139642 CNV duplication 24896259
nsv1125134 CNV deletion 24896259
nsv1118344 CNV deletion 24896259
nsv1049647 CNV gain+loss 25217958
nsv1048002 CNV gain 25217958
nsv1047898 CNV loss 25217958
esv3892799 CNV gain 25118596
esv3570398 CNV gain 25503493
esv3450000 CNV duplication 20981092
esv3392452 CNV duplication 20981092
esv33614 CNV gain+loss 17666407
esv28069 CNV gain+loss 19812545
esv2762276 CNV gain+loss 21179565
esv2758633 CNV gain+loss 17122850
esv2714015 CNV deletion 23290073
dgv4924n54 CNV gain 21841781
dgv2777n100 CNV loss 25217958
dgv2776n100 CNV gain+loss 25217958
dgv2775n100 CNV gain 25217958

Relevant External Links for PKD1P1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for PKD1P1 Gene

Disorders for PKD1P1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PKD1P1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PKD1P1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PKD1P1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PKD1P1 Gene

Publications for PKD1P1 Gene

  1. Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes. (PMID: 11414761) Bogdanova N. … Dworniczak B. (Genomics 2001) 2 3 64
  2. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus B.J. … Adams M.D. (Genomics 1999) 2 3 64
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  4. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H. … Vidal M. (Nat. Methods 2011) 3 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 64

Products for PKD1P1 Gene

Sources for PKD1P1 Gene

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