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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
  • GC16P016340

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 Polycystic Kidney Disease.

No data available for Entrez Gene Summary , CIViC 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 around PKD1P1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PKD1P1 Gene

Chromosome:
16
Start:
16,310,341 bp from pter
End:
16,350,608 bp from pter
Size:
40,268 bases
Orientation:
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

None

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 :
(2) 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
PKD1P1
ECgene alternative splicing isoforms for
PKD1P1

Expression for PKD1P1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:

PKD1P1

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 , 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 PKD1P1 Gene

Orthologs for PKD1P1 Gene

Evolution for PKD1P1 Gene

ENSEMBL:
Gene Tree for PKD1P1 (if available)
TreeFam:
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
rs1002739633 -- 16,321,842(+) CCTGC(C/T)CCTTC intron-variant
rs1002800483 -- 16,324,860(+) CCGCT(-/G)GGGGG nc-transcript-variant, downstream-variant-500B
rs1003754946 -- 16,331,363(+) CCTGC(A/C)GACGG nc-transcript-variant
rs1003807266 -- 16,333,401(+) CATCT(-/AA)AAAAA intron-variant
rs1004528090 -- 16,321,759(+) AACCC(A/C)TGATG intron-variant

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

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

Relevant External Links for PKD1P1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PKD1P1

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

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

- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PKD1P1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PKD1P1
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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