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Aliases for PKD1L1 Gene

Aliases for PKD1L1 Gene

  • Polycystic Kidney Disease 1 Like 1 2 3
  • Polycystin-1L1 2 3 4
  • PC1-Like 1 Protein 3 4
  • Polycystic Kidney Disease Protein 1-Like 1 3
  • PRO19563 3

External Ids for PKD1L1 Gene

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 (Polycystic Kidney Disease 1 Like 1) is a Protein Coding gene. Diseases associated with PKD1L1 include kidney disease and polycystic kidney disease. GO annotations related to this gene include calcium channel activity. An important paralog of this gene is PKD1.

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

Genomic Location for PKD1L1 Gene

Start:
47,774,652 bp from pter
End:
47,964,565 bp from pter
Size:
189,914 bases
Orientation:
Minus strand

Genomic View for PKD1L1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PKD1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKD1L1 Gene

Regulatory Elements 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

Proteomics data for PKD1L1 Gene at MOPED

Post-translational modifications for PKD1L1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn8, Asn295, Asn338, Asn376, Asn447, Asn482, Asn514, Asn605, Asn657, Asn751, Asn875, Asn926, Asn937, Asn1233, Asn1301, Asn1306, Asn1572, Asn1681, Asn1716, and Asn2426

Other Protein References for PKD1L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PKD1L1 Gene

Domains for PKD1L1 Gene

UniProtKB/Swiss-Prot:

PK1L1_HUMAN
Domain:
  • Contains 1 GPS domain.:
    • Q8TDX9
  • Contains 2 PKD domains.:
    • Q8TDX9
  • Contains 1 PLAT domain.:
    • Q8TDX9
  • Contains 1 REJ domain.:
    • Q8TDX9
Family:
  • Belongs to the polycystin family.:
    • Q8TDX9
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 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:

miRNA for PKD1L1 Gene

miRTarBase miRNAs that target PKD1L1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for PKD1L1 Gene COMPARTMENTS Subcellular localization image for PKD1L1 gene
Compartment Confidence
plasma membrane 3
cytosol 2
golgi apparatus 2
nucleus 2

Gene Ontology (GO) - Cellular Components for PKD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane --
GO:0005929 cilium ISS --
GO:0016020 membrane TAS 11863367
GO:0031513 nonmotile primary cilium IDA 24336289
GO:0034704 calcium channel complex IDA 24336289
genes like me logo Genes that share ontologies with PKD1L1: view

Pathways for PKD1L1 Gene

SuperPathways for PKD1L1 Gene

No Data Available

Interacting Proteins for PKD1L1 Gene

Gene Ontology (GO) - Biological Process for PKD1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003127 detection of nodal flow ISS --
GO:0016337 single organismal cell-cell adhesion NAS 11863367
GO:0050982 detection of mechanical stimulus IBA --
GO:0070588 calcium ion transmembrane transport IEA --
GO:0070986 left/right axis specification ISS --
genes like me logo Genes that share ontologies with PKD1L1: view

No data available for Pathways by source 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:

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 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 (6.3).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for PKD1L1 Gene

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 expressions with PKD1L1: view

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 36
  • 98.89 (n)
  • 97.92 (a)
PKD1L1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 17 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia PKD1L1 36
  • 70.36 (n)
  • 61.37 (a)
PKD1L1 37
  • 56 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pkd1l1 36
  • 72.73 (n)
  • 61.85 (a)
Pkd1l1 16
Pkd1l1 37
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 56 (a)
OneToMany
-- 37
  • 47 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PKD1L1 37
  • 45 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pkd1l1 36
  • 73.26 (n)
  • 64.01 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 16 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492056 36
  • 50.97 (n)
  • 38.62 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101887130 36
  • 46.82 (n)
  • 35.43 (a)
PKD1L1 37
  • 34 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta brv1 37
  • 13 (a)
OneToMany
brv2 37
  • 12 (a)
OneToMany
brv3 37
  • 13 (a)
OneToMany
Species with no ortholog for PKD1L1:
  • 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 MAF
rs753432 -- 47,876,627(+) CTGGG(A/C)CCTCT intron-variant
rs876467 -- 47,837,768(-) GAATT(A/G)GAACT intron-variant
rs884596 -- 47,887,805(+) CTGCT(C/G)GTGCC intron-variant
rs885337 -- 47,931,978(+) GTAGC(A/G)CACAG synonymous-codon, reference
rs885338 -- 47,932,029(+) CTTGC(A/G)ATTAT reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv888003 CNV Gain 21882294
nsv830990 CNV Loss 17160897
esv272374 CNV Insertion 20981092
esv269639 CNV Insertion 20981092
nsv830991 CNV Loss 17160897
esv2734359 CNV Deletion 23290073
nsv470221 CNV Gain 18288195
nsv464442 CNV Gain 19166990
nsv824090 CNV Loss 20364138
esv2734360 CNV Deletion 23290073
nsv365291 CNV Loss 16902084

Relevant External Links for PKD1L1 Gene

HapMap Linkage Disequilibrium report
PKD1L1
Human Gene Mutation Database (HGMD)
PKD1L1

Disorders for PKD1L1 Gene

(1) University of Copenhagen DISEASES for PKD1L1 Gene

Relevant External Links for PKD1L1

Genetic Association Database (GAD)
PKD1L1
Human Genome Epidemiology (HuGE) Navigator
PKD1L1
genes like me logo Genes that share disorders with PKD1L1: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. Polycystin-1L2 is a novel G-protein-binding protein. (PMID: 15203210) Yuasa T. … Zhou J. (Genomics 2004) 3 23
  3. 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
  4. 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 49
  5. Direct recording and molecular identification of the calcium channel of primary cilia. (PMID: 24336289) DeCaen P.G. … Clapham D.E. (Nature 2013) 3 4

Products for PKD1L1 Gene

Sources for PKD1L1 Gene

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