PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting)
2012-11-01 AffiliationIdentity
HGNC
LOCATION
7p12.3
LOCUSID
ALIAS
HTX8,PRO19563
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 168507
MIM: 609721
HGNC: 18053
Ensembl: ENSG00000158683
Variants:
dbSNP: 168507
ClinVar: 168507
TCGA: ENSG00000158683
COSMIC: PKD1L1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000158683 | ENST00000289672 | Q8TDX9 |
| ENSG00000158683 | ENST00000433506 | H7C083 |
| ENSG00000158683 | ENST00000648482 | A0A3B3IRH7 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38247840 | 2024 | PKD1L1 Is Involved in Congenital Chylothorax. | 0 |
| 38247840 | 2024 | PKD1L1 Is Involved in Congenital Chylothorax. | 0 |
| 27348301 | 2016 | Atypical calcium regulation of the PKD2-L1 polycystin ion channel. | 31 |
| 27616478 | 2016 | Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. | 34 |
| 27348301 | 2016 | Atypical calcium regulation of the PKD2-L1 polycystin ion channel. | 31 |
| 27616478 | 2016 | Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. | 34 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting)
Atlas Genet Cytogenet Oncol Haematol. 2012-11-01
Online version: http://atlasgeneticsoncology.org/gene/53033/pkd1l1
