PKD1L1 gene

polycystin 1 like 1, transient receptor potential channel interacting

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Heterotaxy, visceral, 8, autosomal

From UniProt:

Heterotaxy, visceral, 8, autosomal (HTX8): A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with a variety of congenital defects including cardiac malformations. HTX8 inheritance is autosomal recessive. [MIM:617205]

Cytogenetic Location: 7p12.3, which is the short (p) arm of chromosome 7 at position 12.3

Molecular Location: base pairs 47,774,603 to 47,958,622 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p12.3, which is the short (p) arm of chromosome 7 at position 12.3
  • HTX8
  • PRO19563