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Aliases for PKD1L3 Gene

Aliases for PKD1L3 Gene

  • Polycystin 1 Like 3, Transient Receptor Potential Channel Interacting 2 3 5
  • Polycystic Kidney Disease 1-Like 3 2 3
  • PC1-Like 3 Protein 3 4
  • Polycystin-1L3 3 4
  • Polycystic Kidney Disease Protein 1-Like 3 3

External Ids for PKD1L3 Gene

Previous GeneCards Identifiers for PKD1L3 Gene

  • GC16M071698
  • GC16M071739
  • GC16M070520
  • GC16M057730

Summaries for PKD1L3 Gene

Entrez Gene Summary for PKD1L3 Gene

  • This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]

GeneCards Summary for PKD1L3 Gene

PKD1L3 (Polycystin 1 Like 3, Transient Receptor Potential Channel Interacting) is a Protein Coding gene. Diseases associated with PKD1L3 include Polycystic Kidney Disease and Polycystic Kidney Disease 1. Among its related pathways are Taste transduction. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and calcium channel activity. An important paralog of this gene is PKDREJ.

UniProtKB/Swiss-Prot for PKD1L3 Gene

  • Component of a calcium channel. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect.

Additional gene information for PKD1L3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKD1L3 Gene

Genomics for PKD1L3 Gene

GeneHancer (GH) Regulatory Elements for PKD1L3 Gene

Promoters and enhancers for PKD1L3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I071999 Promoter 0.6 EPDnew 550.8 0.0 -49 0.1 SOX5 PKD1L3 ENSG00000263311
GH16I071982 Enhancer 0.8 ENCODE 0.4 +17.9 17861 0.1 ELF3 FOXA2 MLX NFIB ARID4B RARA TCF12 CREM MIXL1 MXD4 RPL39P31 PKD1L3 GC16P071931
GH16I071961 Enhancer 0.8 ENCODE 0.3 +38.4 38371 0.2 ELF3 PKNOX1 ATF1 FOXA2 ARID4B SIN3A ZSCAN9 RAD21 ZNF335 ARID2 MARVELD3 IST1 ZNF23 RPL39P31 GC16P071931 PKD1L3
GH16I071926 Enhancer 0.8 ENCODE 0.2 +71.6 71597 3.5 NFIB JUN MZF1 ZBTB40 ZEB1 HIC1 FOSL1 GATA3 ZNF366 POLR2A GC16P071931 IST1 HP MARVELD3 HPR PIR48135 PKD1L3
GH16I071933 Enhancer 0.5 ENCODE 0.2 +65.7 65704 0.6 SSRP1 ZNF316 RFX1 NFE2 MAFK EMSY IST1 GC16P071931 RPL39P31 PKD1L3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PKD1L3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PKD1L3 gene promoter:

Genomic Locations for PKD1L3 Gene

Genomic Locations for PKD1L3 Gene
70,441 bases
Minus strand

Genomic View for PKD1L3 Gene

Genes around PKD1L3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKD1L3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKD1L3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKD1L3 Gene

Proteins for PKD1L3 Gene

  • Protein details for PKD1L3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Polycystic kidney disease protein 1-like 3
    Protein Accession:

    Protein attributes for PKD1L3 Gene

    1732 amino acids
    Molecular mass:
    195894 Da
    Quaternary structure:
    • Calcium channels are probably composed of 3 subunit of PKD2L1 and 1 subunit of PKD1L3.

neXtProt entry for PKD1L3 Gene

Post-translational modifications for PKD1L3 Gene

  • Glycosylation at Asn286, Asn363, isoforms=515, isoforms=537, and isoforms=575
  • Modification sites at PhosphoSitePlus

Other Protein References for PKD1L3 Gene

No data available for DME Specific Peptides for PKD1L3 Gene

Domains & Families for PKD1L3 Gene

Gene Families for PKD1L3 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for PKD1L3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the polycystin family.
  • Belongs to the polycystin family.
genes like me logo Genes that share domains with PKD1L3: view

Function for PKD1L3 Gene

Molecular function for PKD1L3 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
The calcium channel is gated following an off-response property by acid: gated open after the removal of acid stimulus, but not during acid application.
UniProtKB/Swiss-Prot Function:
Component of a calcium channel. May act as a sour taste receptor by forming a calcium channel with PKD1L3 in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect.

Phenotypes From GWAS Catalog for PKD1L3 Gene

Gene Ontology (GO) - Molecular Function for PKD1L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005261 contributes_to cation channel activity ISS --
GO:0005262 calcium channel activity IBA --
GO:0005515 protein binding IPI 20538909
GO:0008324 contributes_to cation transmembrane transporter activity ISS --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with PKD1L3: view
genes like me logo Genes that share phenotypes with PKD1L3: view

Animal Models for PKD1L3 Gene

MGI Knock Outs for PKD1L3:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PKD1L3 Gene

Localization for PKD1L3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKD1L3 Gene

Cell membrane; Multi-pass membrane protein. Note=Interaction with PKD2L1 is required for localization to the cell membrane.

Gene Ontology (GO) - Cellular Components for PKD1L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,IEA 20538909
GO:0009986 colocalizes_with cell surface ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0034703 cation channel complex ISS --
genes like me logo Genes that share ontologies with PKD1L3: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for PKD1L3 Gene

Pathways & Interactions for PKD1L3 Gene

SuperPathways for PKD1L3 Gene

SuperPathway Contained pathways
1 Taste transduction
genes like me logo Genes that share pathways with PKD1L3: view

Pathways by source for PKD1L3 Gene

1 KEGG pathway for PKD1L3 Gene

Interacting Proteins for PKD1L3 Gene

Selected Interacting proteins: Q7Z443-PK1L3_HUMAN for PKD1L3 Gene via IID MINT

Gene Ontology (GO) - Biological Process for PKD1L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001581 NOT detection of chemical stimulus involved in sensory perception of sour taste ISS --
GO:0001822 kidney development IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport ISS --
genes like me logo Genes that share ontologies with PKD1L3: view

No data available for SIGNOR curated interactions for PKD1L3 Gene

Drugs & Compounds for PKD1L3 Gene

(2) Drugs for PKD1L3 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Citrate Approved Pharma Transporter, substrate 0
Calcium Phosphate Approved Pharma Transporter, substrate 0
genes like me logo Genes that share compounds with PKD1L3: view

Transcripts for PKD1L3 Gene

mRNA/cDNA for PKD1L3 Gene

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

Unigene Clusters for PKD1L3 Gene

Polycystic kidney disease 1-like 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PKD1L3 Gene

No ASD Table

Relevant External Links for PKD1L3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PKD1L3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PKD1L3 Gene

mRNA differential expression in normal tissues according to GTEx for PKD1L3 Gene

This gene is overexpressed in Liver (x12.2).

Protein differential expression in normal tissues from HIPED for PKD1L3 Gene

This gene is overexpressed in Ovary (43.0), Liver (8.9), and Monocytes (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PKD1L3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PKD1L3 Gene:


SOURCE GeneReport for Unigene cluster for PKD1L3 Gene:


mRNA Expression by UniProt/SwissProt for PKD1L3 Gene:

Tissue specificity: Highly expressed in placenta, weakly in heart and lung.
genes like me logo Genes that share expression patterns with PKD1L3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PKD1L3 Gene

Orthologs for PKD1L3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PKD1L3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PKD1L3 33
  • 98.88 (n)
(Canis familiaris)
Mammalia PKD1L3 33
  • 81.27 (n)
(Bos Taurus)
Mammalia PKD1L3 33
  • 78.78 (n)
(Mus musculus)
Mammalia Pkd1l3 33 16
  • 75.16 (n)
(Rattus norvegicus)
Mammalia LOC100362565 33
  • 74.65 (n)
Species where no ortholog for PKD1L3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PKD1L3 Gene

Gene Tree for PKD1L3 (if available)
Gene Tree for PKD1L3 (if available)

Paralogs for PKD1L3 Gene

Paralogs for PKD1L3 Gene

(1) SIMAP similar genes for PKD1L3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PKD1L3: view

Variants for PKD1L3 Gene

Sequence variations from dbSNP and Humsavar for PKD1L3 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000000653 -- 71,996,506(-) C/A intron_variant
rs1000111891 -- 71,934,254(-) C/G genic_downstream_transcript_variant, intron_variant
rs1000144387 -- 71,934,412(-) T/G genic_downstream_transcript_variant, intron_variant
rs1000193443 -- 71,980,116(-) T/C coding_sequence_variant, missense_variant
rs1000237985 -- 71,944,489(-) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PKD1L3 Gene

Variant ID Type Subtype PubMed ID
esv2600685 CNV insertion 19546169
esv2661001 CNV deletion 23128226
esv2664876 CNV deletion 23128226
esv2714683 CNV deletion 23290073
esv2758654 CNV gain 17122850
esv3367740 CNV duplication 20981092
esv3582295 CNV loss 25503493
esv3582296 CNV loss 25503493
esv3638985 CNV loss 21293372
esv3638986 CNV loss 21293372
esv3638987 CNV loss 21293372
esv3638988 CNV loss 21293372
nsv103854 CNV deletion 16902084
nsv1055854 CNV loss 25217958
nsv1144773 CNV deletion 24896259
nsv1862 CNV insertion 18451855
nsv428329 CNV gain 18775914
nsv513454 CNV insertion 21212237
nsv516948 CNV loss 19592680
nsv521097 CNV loss 19592680
nsv572950 CNV loss 21841781
nsv7285 OTHER inversion 18451855
nsv833273 CNV loss 17160897
nsv958811 CNV deletion 24416366

Additional Variant Information for PKD1L3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for PKD1L3 Gene

Disorders for PKD1L3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PKD1L3 Gene - From: HGMD and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PKD1L3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PKD1L3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PKD1L3 Gene

Publications for PKD1L3 Gene

  1. Interaction between PKD1L3 and PKD2L1 through their transmembrane domains is required for localization of PKD2L1 at taste pores in taste cells of circumvallate and foliate papillae. (PMID: 20538909) Ishimaru Y … Abe K (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010) 2 3 4 58
  2. Identification of two novel polycystic kidney disease-1-like genes in human and mouse genomes. (PMID: 12782129) Li A … Somlo S (Genomics 2003) 2 3 4 58
  3. Molecular mechanism of the assembly of an acid-sensing receptor ion channel complex. (PMID: 23212381) Yu Y … Yang J (Nature communications 2012) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Sour ageusia in two individuals implicates ion channels of the ASIC and PKD families in human sour taste perception at the anterior tongue. (PMID: 19812697) Huque T … Brand JG (PloS one 2009) 3 4 58

Products for PKD1L3 Gene

Sources for PKD1L3 Gene

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