PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting)

2012-11-01  

Identity

HGNC
PKD1L1
LOCATION
7p12.3
LOCUSID
168507
ALIAS
HTX8,PRO19563
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 168507
MIM: 609721
HGNC: 18053
Ensembl: ENSG00000158683

Variants:

dbSNP: 168507
ClinVar: 168507
TCGA: ENSG00000158683
COSMIC: PKD1L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158683ENST00000289672Q8TDX9
ENSG00000158683ENST00000433506H7C083
ENSG00000158683ENST00000648482A0A3B3IRH7

Expression (GTEx)

0
1
2
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
273483012016Atypical calcium regulation of the PKD2-L1 polycystin ion channel.18
276164782016Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.11

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