Human Gene PKD1L1 (ENST00000289672.7) from GENCODE V44
  Description: Homo sapiens polycystin 1 like 1, transient receptor potential channel interacting (PKD1L1), mRNA. (from RefSeq NM_138295)
RefSeq Summary (NM_138295): 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].
Gencode Transcript: ENST00000289672.7
Gencode Gene: ENSG00000158683.10
Transcript (Including UTRs)
   Position: hg38 chr7:47,774,614-47,948,466 Size: 173,853 Total Exon Count: 57 Strand: -
Coding Region
   Position: hg38 chr7:47,775,143-47,948,440 Size: 173,298 Coding Exon Count: 57 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:47,774,614-47,948,466)mRNA (may differ from genome)Protein (2849 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHGNC
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Polycystic kidney disease protein 1-like 1; AltName: Full=PC1-like 1 protein; AltName: Full=Polycystin-1L1;
FUNCTION: May have a role in the heart and in the male reproductive system.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
TISSUE SPECIFICITY: Detected in testis and in fetal and adult heart.
SIMILARITY: Belongs to the polycystin family.
SIMILARITY: Contains 1 GPS domain.
SIMILARITY: Contains 2 PKD domains.
SIMILARITY: Contains 1 PLAT domain.
SIMILARITY: Contains 1 REJ domain.
SEQUENCE CAUTION: Sequence=AAQ89117.1; Type=Erroneous initiation;

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: PKD1L1
Diseases sorted by gene-association score: heterotaxy, visceral, 8, autosomal* (1229), visceral heterotaxy* (775), dextrocardia with situs inversus* (750), heterotaxy* (428), polycystic kidney disease 1 (32), polycystic kidney disease (18), kidney disease (13), diaphanospondylodysostosis (8), polycystic kidney disease 2 (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.83 RPKM in Testis
Total median expression: 7.02 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.2026-0.200 Picture PostScript Text
3' UTR -110.30529-0.209 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008976 - Lipase_LipOase
IPR001024 - LipOase_LH2
IPR022409 - PKD/Chitinase_dom
IPR002859 - PKD/REJ-like
IPR013122 - PKD1_2_channel
IPR000601 - PKD_dom
IPR014010 - REJ-like

Pfam Domains:
PF00801 - PKD domain
PF08016 - Polycystin cation channel
PF01477 - PLAT/LH2 domain
PF02010 - REJ domain

ModBase Predicted Comparative 3D Structure on Q8TDX9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005262 calcium channel activity
GO:0005515 protein binding

Biological Process:
GO:0003127 detection of nodal flow
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0050982 detection of mechanical stimulus
GO:0070588 calcium ion transmembrane transport
GO:0070986 left/right axis specification
GO:0098609 cell-cell adhesion

Cellular Component:
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0034704 calcium channel complex
GO:0042995 cell projection
GO:0060170 ciliary membrane
GO:0097730 non-motile cilium

-  Descriptions from all associated GenBank mRNAs
  AB061683 - Homo sapiens PKD1L1 mRNA for polycystin-1L1, complete cds.
AY358757 - Homo sapiens clone DNA96861 PKD1L1 (UNQ5785) mRNA, complete cds.
JD020435 - Sequence 1459 from Patent EP1572962.
JD031545 - Sequence 12569 from Patent EP1572962.
JD035999 - Sequence 17023 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000289672.1, ENST00000289672.2, ENST00000289672.3, ENST00000289672.4, ENST00000289672.5, ENST00000289672.6, NM_138295, PK1L1_HUMAN, Q6UWK1, Q8TDX9, uc003tny.1, uc003tny.2, uc003tny.3, uc003tny.4, UNQ5785/PRO19563
UCSC ID: ENST00000289672.7
RefSeq Accession: NM_138295
Protein: Q8TDX9 (aka PK1L1_HUMAN or P1L1_HUMAN)
CCDS: CCDS34633.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.