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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
  • GC16P016345
  • GC16P016350

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 and Polycystic Kidney Disease.

Additional gene information for PKD1P1 Gene

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

GeneHancer (GH) Regulatory Elements for PKD1P1 Gene

Promoters and enhancers for PKD1P1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I016309 Promoter 0.5 Ensembl 550.8 0.0 -40 1.8 ENSG00000257366 PKD1P1 MIR3180-2 PIR52576 LOC105371099
GH16I015792 Enhancer 0.8 dbSUPER 56.5 -516.7 -516663 3.4 SMAD1 ZNF473 NFIB INSM2 ZNF195 ZBTB40 NCOA2 ZNF121 ZNF366 ZNF350 ENSG00000280429 ENSG00000183458 PKD1P1 LOC100505915 ENSG00000277920 FOPNL NPIPA1 PKD1P6 NPIPA5 NPIPP1
GH16I015638 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.6 -667.4 -667354 9 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 SSRP1 GLIS1 GC16P015643 MARF1 NDE1 MIR484 ENSG00000263335 ENSG00000183458 PKD1P1 LOC100505915 PKD1P6 ENSG00000227827
GH16I015588 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -719.0 -719019 5.4 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 PARN ENSG00000263335 BFAR LOC100505915 RRN3 ABCC1 PKD1P6 ENSG00000262171 NDE1 PKD1P1
GH16I015487 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -819.2 -819168 7.6 PKNOX1 SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A YY1 ZNF766 FOS LOC100505915 PARN RRN3 C16orf45 PKD1P6 PKD1P1 BFAR ENSG00000183458 PDXDC1 ENSG00000207425
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PKD1P1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PKD1P1 gene promoter:

Genomic Locations for PKD1P1 Gene

Genomic Locations for PKD1P1 Gene
chr16:16,310,341-16,350,608
(GRCh38/hg38)
Size:
40,268 bases
Orientation:
Plus strand
chr16:16,411,301-16,444,465
(GRCh37/hg19)

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 From GWAS Catalog 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

Clone 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 , Subcellular locations from the Human Protein Atlas (HPA) 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 :
(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:

Clone Products

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 Variation AA Info Type
rs1002739633 -- 16,321,842(+) C/T intron_variant
rs1002800483 -- 16,324,861(+) GGGGGG/GGGGGGG non_coding_transcript_variant
rs1003754946 -- 16,331,363(+) A/C non_coding_transcript_variant
rs1003807266 -- 16,333,401(+) AAAAAAAAAAAAAA/AAAAAAAAAAAA/AAAAAAAAAAAAAAA intron_variant
rs1004528090 -- 16,321,759(+) C/A 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

Additional Variant Information 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: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 58
  2. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus BJ … Adams MD (Genomics 1999) 2 3 58
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  4. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H … Vidal M (Nature methods 2011) 3 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 58

Products for PKD1P1 Gene

Sources for PKD1P1 Gene

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