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] See more...

Aliases for PKD1L3 Gene

Aliases for PKD1L3 Gene

  • Polycystin 1 Like 3, Transient Receptor Potential Channel Interacting 2 3 5
  • Polycystic Kidney Disease Protein 1-Like 3 3 4
  • Polycystic Kidney Disease 1-Like 3 2 3
  • PC1-Like 3 Protein 3 4
  • Polycystin-1L3 3 4
  • PKD1L3 5

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 Kidney Disease. 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 Summary 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PKD1L3 Gene

Genomics for PKD1L3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PKD1L3 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
GH16J072012 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 600.4 -13.3 -13295 2.2 PRDM10 IKZF1 ZNF692 GABPA ZIC2 EP300 MGA ZBTB20 HMBOX1 EGR1 PKD1L3 TXNL4B HP HPR DHODH DHX38 piR-30361
GH16J072001 Enhancer 0.6 Ensembl 600.7 -1.8 -1800 1.2 PRDM10 RXRB CEBPA SCRT2 SCRT1 ATF4 NFIL3 THRB CEBPG SP5 PKD1L3 DHODH HPR ENSG00000263311
GH16J071999 Enhancer 0.4 Ensembl 606.9 +0.6 600 1.2 SOX13 ATF3 ATF4 SOX5 PKD1L3 lnc-PKD1L3-4 DHODH RPL39P31 ZNF821
GH16J072171 Enhancer 1.2 FANTOM5 Ensembl ENCODE 4.2 -173.0 -172999 4.8 RFX1 BACH1 JUND ZNF143 IKZF2 TRIM22 FOXJ2 PKNOX1 EED ZNF766 HPR HP PMFBP1 PKD1L3 IST1 AP1G1 ATXN1L DHX38 piR-34822-122 TXNL4B
GH16J072183 Enhancer 0.3 Ensembl 4.7 -182.7 -182700 0.6 CTCF HPR PKD1L3 PMFBP1 LOC105371341 LOC107984814
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PKD1L3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PKD1L3

Top Transcription factor binding sites by QIAGEN in the PKD1L3 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • CUTL1
  • Evi-1
  • GATA-2
  • NF-kappaB
  • NF-kappaB1
  • p300
  • POU3F2

Genomic Locations for PKD1L3 Gene

Genomic Locations for PKD1L3 Gene
chr16:71,929,538-72,000,401
(GRCh38/hg38)
Size:
70,864 bases
Orientation:
Minus strand
chr16:71,963,441-72,033,877
(GRCh37/hg19)
Size:
70,437 bases
Orientation:
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:
    Q7Z443-PK1L3_HUMAN
    Recommended name:
    Polycystic kidney disease protein 1-like 3
    Protein Accession:
    Q7Z443

    Protein attributes for PKD1L3 Gene

    Size:
    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, Asn515, Asn537, and Asn575
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PKD1L3 Gene

Domains & Families for PKD1L3 Gene

Gene Families for PKD1L3 Gene

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

Suggested Antigen Peptide Sequences for PKD1L3 Gene

GenScript: Design optimal peptide antigens:
  • Polycystin-1L3 (PK1L3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z443

UniProtKB/Swiss-Prot:

PK1L3_HUMAN :
  • Belongs to the polycystin family.
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 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.
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.

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 21873635
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKD1L3

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PKD1L3 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for PKD1L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,IDA 20538909
GO:0009986 colocalizes_with cell surface ISS --
GO:0016020 membrane IBA 21873635
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 the Human Protein Atlas (HPA) for PKD1L3 Gene

Pathways & Interactions for PKD1L3 Gene

PathCards logo

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

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:0006811 ion transport IEA --
GO:0006812 cation transport ISS --
GO:0006816 calcium ion transport IEA --
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

(3) Drugs for PKD1L3 Gene - From: DrugBank

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

Transcripts for PKD1L3 Gene

mRNA/cDNA for PKD1L3 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKD1L3

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

No ASD Table

Relevant External Links for PKD1L3 Gene

GeneLoc Exon Structure for
PKD1L3

Expression for PKD1L3 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PKD1L3

SOURCE GeneReport for Unigene cluster for PKD1L3 Gene:

Hs.675286

mRNA Expression by UniProt/SwissProt for PKD1L3 Gene:

Q7Z443-PK1L3_HUMAN
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
Chimpanzee
(Pan troglodytes)
Mammalia PKD1L3 30
  • 98.88 (n)
Dog
(Canis familiaris)
Mammalia PKD1L3 30
  • 81.27 (n)
Cow
(Bos Taurus)
Mammalia PKD1L3 30
  • 78.78 (n)
Mouse
(Mus musculus)
Mammalia Pkd1l3 30 17
  • 75.16 (n)
Rat
(Rattus norvegicus)
Mammalia LOC100362565 30
  • 74.65 (n)
Species where no ortholog for PKD1L3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for PKD1L3 (if available)
TreeFam:
Gene Tree for PKD1L3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PKD1L3: view image

Paralogs for PKD1L3 Gene

Paralogs for PKD1L3 Gene

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

  • PK1L3_HUMAN
genes like me logo Genes that share paralogs with PKD1L3: view

Variants for PKD1L3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PKD1L3 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
742314 Likely Benign: not provided 71,986,353(-) CTG/C FRAMESHIFT_VARIANT
768786 Benign: not provided 71,999,722(-) AC/A NONSENSE
769495 Benign: not provided 71,947,511(-) CTTTG/C FRAMESHIFT_VARIANT
770635 Benign: not provided 71,947,527(-) TTC/T FRAMESHIFT_VARIANT
774506 Likely Benign: not provided 71,954,233(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PKD1L3 Gene

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)
PKD1L3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PKD1L3

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

(7) MalaCards diseases for PKD1L3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
polycystic kidney disease
  • pkd
kidney disease
  • impaired renal function disease
spondyloepiphyseal dysplasia, maroteaux type
  • sed, maroteaux type
polycystic kidney disease 2 with or without polycystic liver disease
  • pkd2
parastremmatic dwarfism
  • parastremmatic dysplasia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PKD1L3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  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
  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
  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 41
  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

Products for PKD1L3 Gene

Sources for PKD1L3 Gene