Cystin-1, also known as CYS1, is a novel cilia associated protein which in humans is encoded by the Cystin 1 gene on chromosome 2. The gene is highly expressed in the tissues of the kidneys. There are no known paralogs of Cystin-1 in humans, but has orthologs in mammals, birds, and some reptiles.

Gene

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The Cystin 1 gene is found on the negative strand of chromosome 2 in humans, with the exact location at 2p25.1. It contains 3 exons, spanning 3045 base pairs.[1]

Expression

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The gene is overwhelmingly expressed within tissues in the kidneys.[2] Lower expression levels are found in the ovaries, endometrium, lung, and gallbladder.

Clinical Significance

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Gene expression levels are increased in the ovary of those who experience ovarian endometriosis.[3] There are also studies that connect the expression of Cystin to polycystic kidney disease,[4] but direct impact is unknown.

Protein

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Cystin-1 consists of 158 amino acids and has a molecular weight of ~16.4kDa.[5]

Interactions

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There are not many known interacting proteins with Cystin-1. Table 1 shows just a few possible interactions.

Gene Abbreviation Functions
unc-119 lipid binding chaperone UNC119 Used to maintain localization
N-myritstoyltransferase 1 NMT1 Used to maintain localization
Phospholipase C gamme 1 PLCG2 Enable protein kinase activity
Regulator of Telomere elongation helicase 1 RTEL1 Enables ATP binding and DNA helicase activity
Epidermal growth factor receptor EGFR Biomarker for several diseases (including cancers)

Table 1. Interactions with Cystin-1 based on affinity chromatography technology from Alliance of Genome Resources.[6]

Subcellular Location

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Based on protein interactions with UNC119B, Cystin-1 is predicted to be localized within the cilia of the cell. How this protein makes its way to the cilia is still unknown.

Homology

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Paralogs

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There are currently no known paralog of Cystin-1 within humans.

Orthologs

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Orthologs of Cystin-1 were found in vertebrates, but not invertebrates.

Genus and Species Common Name Taxonomy Date of divergence from Humans (MYA) NCBI Accession Sequence identity to humans Sequence Similarity to humans
Mammal Homo sapiens Humans Primates 0 NP_001032237 100% 100%
Pongo abelii Sumatran Orangutan Primates 18 XP_024098426 92.40% 93.70%
Monodon monoceros Narwhal Cetacea 94 XP_029088030.1 67.30% 74.20%
Phyllostomus hastatus Spear nosed bat Chiroptera 94 XP_045700664.1 66.50% 72%
Cervus canadensis Elk Artiodactyla 94 XP_043325302.1 65.40% 71%
Acinonyx jubatus Cheetah Carnivora 94 XP_026933675.0 61.90% 68.50%
Mus musculus House Mouse Rodentia 87 AAI39303.0 58.20% 65.80%
Manis javanica Sunda Pangolin Pholidota 94 KAI5938697.0 27.10% 29%
Reptilia
Gopherus evgoodei Goode's Thornscrub Tortiose Testudines 319 XP_030411302.1 38% 44.30%
Varanus komodoensis Komodo Dragon Squamata 319 XP_044275134.1 36.30% 44%
Lacerta agilis Sand Lizard Squamata 319 XP_032998985.1 35.60% 44.40%
Chelydra serpentina Common Snapping Turtle Testudines 318 KAG6933055 23% 26.60%
Aves
Vidua chalybeata Village Indigo Brid Passeriformes 319 XP_053794446.1 36% 40.90%
Poecile atricapillus Black Capped Chickadee Passeriformes 319 XP_058691046.1 35.70% 41.50%
Pipra filicauda Wire-tailed Manakin Passeriformes 319 XP_039240811.1 35.60% 39.50%
Apus apus Common Swift Apodiformes 319 XP_051469776.1 35.40% 42.30%

Table 2. Species that have the Cystin-1 ortholog

References

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  1. ^ "Homo sapiens cystin 1 (CYS1), mRNA". 2023-07-14. {{cite journal}}: Cite journal requires |journal= (help)
  2. ^ "Cys1 cystin 1 [Fukomys damarensis (Damara mole-rat)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-12-15.
  3. ^ "GDS2835 / 228739_at". www.ncbi.nlm.nih.gov. Retrieved 2023-12-15.
  4. ^ Hou, Xiaoying; Mrug, Michal; Yoder, Bradley K.; Lefkowitz, Elliot J.; Kremmidiotis, Gabriel; D'Eustachio, Peter; Beier, David R.; Guay-Woodford, Lisa M. (2002-02-15). "Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease". The Journal of Clinical Investigation. 109 (4): 533–540. doi:10.1172/JCI14099. ISSN 0021-9738. PMC 150876. PMID 11854326.
  5. ^ "CYS1 Gene - Cystin 1". GeneCards.
  6. ^ "Alliance of Genome Resources". www.alliancegenome.org. Retrieved 2023-12-15.