GeneID: 280


Common Name: PKD1L1 Type: Gene
Chromosome: 7 (NC_000007.14) Locus: NG_052801.1 (PKD1L1)
HUGO Symbol: PKD1L1 Full Name: polycystin 1 like 1, transient receptor potential channel interacting
Exons: 57 Introns: 56

This gene encodes a transmembrane protein (TM) that belongs to the large family of polycystin proteins. All TM protein members of this family are characterized by a large extracellular N-terminus of putative cell adhesion domains and a GPCR proteolytic site. PKD1L1 interacts with PKD2L1 to form ion channels in several cell types. Cilia are a specialised calcium compartment regulated by PKD1L1/PKD2L1 channels, which regulate sonic hedgehog/SHH signalling and GLI2 transcription with downstream effect on cell division and growth. A variation in PKD1L1 associated with Hb F response to hydroxyurea in sickle cell disease cohorts.

Synonyms: HTX8 , PRO19563


Publications / Origin

  1. DeCaen PG, Delling M, Vien TN, Clapham DE, Direct recording and molecular identification of the calcium channel of primary cilia., Nature, 504(7479), 315-8, 2013
  2. Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014
Created on 2019-09-26 12:21:49, Last reviewed on (Show full history)

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