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Aliases for PKD1P1 Gene

Aliases for PKD1P1 Gene

  • Polycystin 1, Transient Receptor Potential Channel Interacting Pseudogene 1 2 3
  • Polycystic Kidney Disease 1 (Autosomal Dominant) Pseudogene 1 2 3 5
  • 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

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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around PKD1P1 on UCSC Golden Path with GeneCards custom track

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

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

Drugs & Compounds for PKD1P1 Gene

No Compound Related Data Available

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 for PKD1P1 Gene

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

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

SOURCE GeneReport for Unigene cluster for PKD1P1 Gene Hs.720303

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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
rs3883145 -- 16,334,828(+) ttaga(C/G)acagg intron-variant
rs4009275 -- 16,334,597(+) ATAAA(A/T)AGAAT intron-variant
rs4009276 -- 16,334,614(+) CCATA(C/G)TTTTG intron-variant
rs4009354 -- 16,334,540(+) tacag(A/G)cgtga intron-variant
rs208650 -- 16,334,357(+) ctccc(A/G)ggttc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv435664 CNV Deletion 17901297
esv2714015 CNV Deletion 23290073
nsv457428 CNV Gain 19166990
dgv817e1 CNV Complex 17122850
esv33614 CNV Gain+Loss 17666407
nsv905424 CNV Gain 21882294
nsv428319 CNV Loss 18775914
nsv905425 CNV Gain 21882294
dgv818e1 CNV Complex 17122850
nsv509599 CNV Insertion 20534489
esv28069 CNV Gain+Loss 19812545
nsv820818 CNV Deletion 20802225
nsv905426 CNV Gain 21882294
dgv2619n71 CNV Gain 21882294
dgv2620n71 CNV Gain 21882294
nsv1746 CNV Insertion 18451855

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

Disorders for PKD1P1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PKD1P1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
polycystic kidney disease
  • congenital biliary ectasias
kidney disease
  • nephropathy
- 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 67
  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
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H. … Vidal M. (Nat. Methods 2011) 3
  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

Products for PKD1P1 Gene

Sources for PKD1P1 Gene