PKD1L1 - polycystin 1 like 1, transient receptor potential channel interacting Gene
Also Known as HTX8; PRO19563
Species: Homo sapiens
About PKD1L1
This gene has 8 transcripts (splice variants), 128 orthologues, 10 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.
Summary
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]
PKD1L1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_138295.5 | NP_612152.1 | polycystic kidney disease protein 1-like 1 |
PKD1L1 Protein Structure
PKD: PKD domain (599 - 662)
REJ: REJ domain (707 - 1318)
PLAT: PLAT/LH2 domain (1798 - 1903)
PKD_channel: Polycystin cation channel (2441 - 2667)
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- 2500
- 2849 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
polycystic kidney disease protein 1-like 1 |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Heterotaxy, Visceral, 8, Autosomal |
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| Dextrocardia With Situs Inversus |
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| Visceral Heterotaxy |
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| Situs Inversus |
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| Polycystic Kidney Disease |
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| Kidney Disease |
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| Diaphanospondylodysostosis |
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| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
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| Ascending Cholangitis |
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| Bardet-Biedl Syndrome |
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| Autosomal Dominant Polycystic Kidney Disease |
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| Cystic Kidney Disease |
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| Transposition Of The Great Arteries, Dextro-Looped |
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| Primary Ciliary Dyskinesia |
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| Polycystic Liver Disease |
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