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Aliases for PKD1L1 Gene

Aliases for PKD1L1 Gene

  • Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting 2 3 5
  • Polycystin-1L1 2 3 4
  • Polycystic Kidney Disease 1 Like 1 2 3
  • PC1-Like 1 Protein 3 4
  • Polycystic Kidney Disease Protein 1-Like 1 3
  • PRO19563 3
  • HTX8 3

External Ids for PKD1L1 Gene

Previous GeneCards Identifiers for PKD1L1 Gene

  • GC07M047461
  • GC07M047555
  • GC07M047587
  • GC07M047780
  • GC07M047698

Summaries for PKD1L1 Gene

Entrez Gene Summary for PKD1L1 Gene

  • This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for PKD1L1 Gene

PKD1L1 (Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting) is a Protein Coding gene. Diseases associated with PKD1L1 include Dextrocardia With Situs Inversus and Visceral Heterotaxy. GO annotations related to this gene include calcium channel activity. An important paralog of this gene is MIR6511B1.

UniProtKB/Swiss-Prot for PKD1L1 Gene

  • Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKD1L1 Gene

Genomics for PKD1L1 Gene

Regulatory Elements for PKD1L1 Gene

Enhancers for PKD1L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F047939 1.7 FANTOM5 Ensembl ENCODE 14 +22.8 22835 4.4 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ENSG00000225507 PKD1L1 HUS1 C7orf57 UPP1 GC07M047823
GH07F048081 1.8 FANTOM5 Ensembl ENCODE 10.7 -126.4 -126417 18.7 ARID4B SIN3A DMAP1 FEZF1 YY1 ZNF207 FOS SP3 SP5 JUNB UPP1 HUS1 ENSG00000225507 PKD1L1 SUN3 ABCA13 LOC105375271
GH07F047991 1.5 FANTOM5 Ensembl ENCODE 11 -27.6 -27631 2.2 ELF3 MLX ARID4B ZNF48 RAD21 YY1 EGR1 ZNF143 EGR2 ZNF654 UPP1 PKD1L1 HUS1 ABCA13 LOC105375270 SUN3
GH07F047469 1.8 FANTOM5 Ensembl ENCODE 9 +484.8 484822 20.4 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 ENSG00000225507 TNS3 C7orf65 C7orf69 PKD1L1 HUS1 GC07P047460
GH07F047937 1.1 Ensembl ENCODE 13.7 +27.1 27133 0.6 HDGF PKNOX1 MXI1 TBL1XR1 BMI1 EBF1 RELA POLR2A EED ETV6 PKD1L1 HUS1 UPP1 ENSG00000225507 GC07M047823
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PKD1L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PKD1L1 Gene

Chromosome:
7
Start:
47,774,652 bp from pter
End:
47,964,635 bp from pter
Size:
189,984 bases
Orientation:
Minus strand

Genomic View for PKD1L1 Gene

Genes around PKD1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKD1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKD1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKD1L1 Gene

Proteins for PKD1L1 Gene

  • Protein details for PKD1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDX9-PK1L1_HUMAN
    Recommended name:
    Polycystic kidney disease protein 1-like 1
    Protein Accession:
    Q8TDX9
    Secondary Accessions:
    • Q6UWK1

    Protein attributes for PKD1L1 Gene

    Size:
    2849 amino acids
    Molecular mass:
    315435 Da
    Quaternary structure:
    • Heterodimer; heterodimerizes with PKD2 proteins to form a calcium channel. Interacts with PKD2L1; to form ciliary calcium channel. Interacts with PKD2.
    SequenceCaution:
    • Sequence=AAQ89117.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PKD1L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PKD1L1 Gene

Post-translational modifications for PKD1L1 Gene

  • Glycosylation at Asn 8, Asn 295, Asn 338, Asn 376, Asn 447, Asn 482, Asn 514, Asn 605, Asn 657, Asn 751, Asn 875, Asn 926, Asn 937, Asn 1233, Asn 1301, Asn 1306, Asn 1572, Asn 1681, Asn 1716, and Asn 2426
  • Modification sites at PhosphoSitePlus

Other Protein References for PKD1L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PKD1L1 Gene

Domains & Families for PKD1L1 Gene

Suggested Antigen Peptide Sequences for PKD1L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TDX9

UniProtKB/Swiss-Prot:

PK1L1_HUMAN :
  • Contains 1 GPS domain.
  • Belongs to the polycystin family.
Domain:
  • Contains 1 GPS domain.
  • Contains 2 PKD domains.
  • Contains 1 PLAT domain.
  • Contains 1 REJ domain.
Family:
  • Belongs to the polycystin family.
genes like me logo Genes that share domains with PKD1L1: view

No data available for Gene Families for PKD1L1 Gene

Function for PKD1L1 Gene

Molecular function for PKD1L1 Gene

UniProtKB/Swiss-Prot Function:
Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration. Forms a heterodimer with PKD2L1 in primary cilia and forms a calcium-permeant ciliary channel that regulates sonic hedgehog/SHH signaling and GLI2 transcription. Does not constitute the pore-forming subunit. Also involved in left/right axis specification downstream of nodal flow: forms a complex with PKD2 in cilia to facilitate flow detection in left/right patterning.

Gene Ontology (GO) - Molecular Function for PKD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity IEA,IDA 24336289
GO:0005515 protein binding IPI 24336289
genes like me logo Genes that share ontologies with PKD1L1: view
genes like me logo Genes that share phenotypes with PKD1L1: view

Animal Models for PKD1L1 Gene

MGI Knock Outs for PKD1L1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PKD1L1

miRNA for PKD1L1 Gene

miRTarBase miRNAs that target PKD1L1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PKD1L1 Gene

Localization for PKD1L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKD1L1 Gene

Cell projection, cilium membrane; Multi-pass membrane protein.

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 PKD1L1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for PKD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005929 cilium IEA,ISS --
GO:0016020 membrane IEA,TAS 11863367
GO:0016021 integral component of membrane IEA --
GO:0034704 calcium channel complex IDA 24336289
genes like me logo Genes that share ontologies with PKD1L1: view

Pathways & Interactions for PKD1L1 Gene

SuperPathways for PKD1L1 Gene

No Data Available

Interacting Proteins for PKD1L1 Gene

Selected Interacting proteins: Q8TDX9-PK1L1_HUMAN for PKD1L1 Gene via IID

Gene Ontology (GO) - Biological Process for PKD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003127 detection of nodal flow ISS --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0016337 single organismal cell-cell adhesion NAS 11863367
genes like me logo Genes that share ontologies with PKD1L1: view

No data available for Pathways by source and SIGNOR curated interactions for PKD1L1 Gene

Transcripts for PKD1L1 Gene

mRNA/cDNA for PKD1L1 Gene

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

Unigene Clusters for PKD1L1 Gene

Polycystic kidney disease 1 like 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PKD1L1 Gene

No ASD Table

Relevant External Links for PKD1L1 Gene

GeneLoc Exon Structure for
PKD1L1
ECgene alternative splicing isoforms for
PKD1L1

Expression for PKD1L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PKD1L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKD1L1 Gene

This gene is overexpressed in Heart - Left Ventricle (x6.3).

Protein differential expression in normal tissues from HIPED for PKD1L1 Gene

This gene is overexpressed in Liver (43.5) and Adrenal (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PKD1L1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PKD1L1 Gene:

PKD1L1

SOURCE GeneReport for Unigene cluster for PKD1L1 Gene:

Hs.195979

mRNA Expression by UniProt/SwissProt for PKD1L1 Gene:

Q8TDX9-PK1L1_HUMAN
Tissue specificity: Detected in testis and in fetal and adult heart.
genes like me logo Genes that share expression patterns with PKD1L1: view

Primer Products

No data available for Protein tissue co-expression partners for PKD1L1 Gene

Orthologs for PKD1L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PKD1L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PKD1L1 34 35
  • 98.89 (n)
rat
(Rattus norvegicus)
Mammalia Pkd1l1 34
  • 73.26 (n)
mouse
(Mus musculus)
Mammalia Pkd1l1 34 16 35
  • 72.73 (n)
dog
(Canis familiaris)
Mammalia PKD1L1 34 35
  • 70.36 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 56 (a)
OneToMany
-- 35
  • 47 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PKD1L1 35
  • 45 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 35
  • 17 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 16 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492056 34
  • 50.97 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101887130 34
  • 46.82 (n)
PKD1L1 35
  • 34 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta brv1 35
  • 13 (a)
OneToMany
brv3 35
  • 13 (a)
OneToMany
brv2 35
  • 12 (a)
OneToMany
Species where no ortholog for PKD1L1 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PKD1L1 Gene

ENSEMBL:
Gene Tree for PKD1L1 (if available)
TreeFam:
Gene Tree for PKD1L1 (if available)

Paralogs for PKD1L1 Gene

Paralogs for PKD1L1 Gene

genes like me logo Genes that share paralogs with PKD1L1: view

Variants for PKD1L1 Gene

Sequence variations from dbSNP and Humsavar for PKD1L1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs528302390 Pathogenic 47,831,214(+) CAGCT(-/CA)CCTGT splice-donor-variant
rs10215183 -- 47,900,644(+) AATAG(A/C)TTGAA intron-variant
rs10227397 -- 47,924,241(+) tccca(G/T)caggg intron-variant
rs10228763 -- 47,906,442(+) tacat(A/C)ccata intron-variant
rs10230592 -- 47,790,352(+) tgaga(C/T)ggagt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PKD1L1 Gene

Variant ID Type Subtype PubMed ID
dgv3533n106 CNV deletion 24896259
dgv6345n100 CNV loss 25217958
esv2734359 CNV deletion 23290073
esv2734360 CNV deletion 23290073
esv3305361 CNV mobile element insertion 20981092
esv3308100 CNV mobile element insertion 20981092
esv3341051 CNV insertion 20981092
esv3355250 CNV insertion 20981092
esv3384190 CNV insertion 20981092
esv3541595 CNV deletion 23714750
esv3613065 CNV gain 21293372
esv3613069 CNV gain 21293372
esv3613072 CNV loss 21293372
esv3613073 CNV gain 21293372
nsv1078987 CNV insertion 25765185
nsv365291 CNV deletion 16902084
nsv464442 CNV gain 19166990
nsv470221 CNV gain 18288195
nsv479213 CNV novel sequence insertion 20440878
nsv606892 CNV loss 21841781
nsv606893 CNV gain 21841781
nsv824090 CNV loss 20364138
nsv830990 CNV loss 17160897
nsv830991 CNV loss 17160897

Variation tolerance for PKD1L1 Gene

Residual Variation Intolerance Score: 99.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.15; 92.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PKD1L1 Gene

Human Gene Mutation Database (HGMD)
PKD1L1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PKD1L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKD1L1 Gene

Disorders for PKD1L1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PKD1L1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dextrocardia with situs inversus
  • situs inversus
visceral heterotaxy
  • heterotaxia
kidney disease
  • nephropathy
diaphanospondylodysostosis
  • defect in vertebral ossification with nephrogenic rests
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PKD1L1

Genetic Association Database (GAD)
PKD1L1
Human Genome Epidemiology (HuGE) Navigator
PKD1L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PKD1L1
genes like me logo Genes that share disorders with PKD1L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PKD1L1 Gene

Publications for PKD1L1 Gene

  1. The sequence, expression, and chromosomal localization of a novel polycystic kidney disease 1-like gene, PKD1L1, in human. (PMID: 11863367) Yuasa T. … Zhou J. (Genomics 2002) 2 3 4 22 64
  2. Direct recording and molecular identification of the calcium channel of primary cilia. (PMID: 24336289) DeCaen P.G. … Clapham D.E. (Nature 2013) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Polycystin-1L2 is a novel G-protein-binding protein. (PMID: 15203210) Yuasa T. … Zhou J. (Genomics 2004) 3 22 64
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64

Products for PKD1L1 Gene

Sources for PKD1L1 Gene

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