Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	192668
Gene name	Cystin 1
Gene symbol	CYS1
Synonyms (NCBI Gene)	-
Chromosome	2
Chromosome location	2p25.1

82 Show/Hide all (82)

miRTarBase ID	miRNA	Experiments	Reference
MIRT738345	hsa-miR-448	HITS-CLIP	33718276
MIRT922005	hsa-miR-1224-3p	CLIP-seq
MIRT922006	hsa-miR-1237	CLIP-seq
MIRT922007	hsa-miR-124	CLIP-seq
MIRT922008	hsa-miR-1260	CLIP-seq
MIRT922009	hsa-miR-1260b	CLIP-seq
MIRT922010	hsa-miR-1273g	CLIP-seq
MIRT922011	hsa-miR-1280	CLIP-seq
MIRT922012	hsa-miR-134	CLIP-seq
MIRT922013	hsa-miR-146a	CLIP-seq
MIRT922014	hsa-miR-146b-5p	CLIP-seq
MIRT922015	hsa-miR-149	CLIP-seq
MIRT922016	hsa-miR-188-3p	CLIP-seq
MIRT922017	hsa-miR-1914	CLIP-seq
MIRT922018	hsa-miR-204	CLIP-seq
MIRT922019	hsa-miR-211	CLIP-seq
MIRT922020	hsa-miR-3118	CLIP-seq
MIRT922021	hsa-miR-3120-5p	CLIP-seq
MIRT922022	hsa-miR-3156-3p	CLIP-seq
MIRT922023	hsa-miR-3164	CLIP-seq
MIRT922024	hsa-miR-3182	CLIP-seq
MIRT922025	hsa-miR-3198	CLIP-seq
MIRT922026	hsa-miR-3616-5p	CLIP-seq
MIRT922027	hsa-miR-3647-5p	CLIP-seq
MIRT922028	hsa-miR-3667-3p	CLIP-seq
MIRT922029	hsa-miR-3679-3p	CLIP-seq
MIRT922030	hsa-miR-3978	CLIP-seq
MIRT922031	hsa-miR-4251	CLIP-seq
MIRT922032	hsa-miR-4279	CLIP-seq
MIRT922033	hsa-miR-4309	CLIP-seq
MIRT922034	hsa-miR-4324	CLIP-seq
MIRT922035	hsa-miR-4419a	CLIP-seq
MIRT922036	hsa-miR-4510	CLIP-seq
MIRT922037	hsa-miR-4653-3p	CLIP-seq
MIRT922038	hsa-miR-4676-5p	CLIP-seq
MIRT922039	hsa-miR-4699-3p	CLIP-seq
MIRT922040	hsa-miR-4747-5p	CLIP-seq
MIRT922041	hsa-miR-4755-5p	CLIP-seq
MIRT922042	hsa-miR-4795-5p	CLIP-seq
MIRT922043	hsa-miR-488	CLIP-seq
MIRT922044	hsa-miR-489	CLIP-seq
MIRT922045	hsa-miR-506	CLIP-seq
MIRT922046	hsa-miR-514	CLIP-seq
MIRT922047	hsa-miR-514b-3p	CLIP-seq
MIRT922048	hsa-miR-519a	CLIP-seq
MIRT922049	hsa-miR-519b-3p	CLIP-seq
MIRT922050	hsa-miR-519c-3p	CLIP-seq
MIRT922051	hsa-miR-548ac	CLIP-seq
MIRT922052	hsa-miR-548ae	CLIP-seq
MIRT922053	hsa-miR-548aj	CLIP-seq
MIRT922054	hsa-miR-548am	CLIP-seq
MIRT922055	hsa-miR-548d-3p	CLIP-seq
MIRT922056	hsa-miR-548x	CLIP-seq
MIRT922057	hsa-miR-548z	CLIP-seq
MIRT922058	hsa-miR-573	CLIP-seq
MIRT922059	hsa-miR-575	CLIP-seq
MIRT922060	hsa-miR-589	CLIP-seq
MIRT922061	hsa-miR-617	CLIP-seq
MIRT922062	hsa-miR-623	CLIP-seq
MIRT922063	hsa-miR-875-3p	CLIP-seq
MIRT1973109	hsa-miR-3150a-3p	CLIP-seq
MIRT1973110	hsa-miR-3155	CLIP-seq
MIRT1973111	hsa-miR-3155b	CLIP-seq
MIRT1973112	hsa-miR-3173-5p	CLIP-seq
MIRT1973113	hsa-miR-3175	CLIP-seq
MIRT1973114	hsa-miR-4667-5p	CLIP-seq
MIRT1973115	hsa-miR-4700-5p	CLIP-seq
MIRT1973116	hsa-miR-4707-3p	CLIP-seq
MIRT1973117	hsa-miR-4731-5p	CLIP-seq
MIRT1973118	hsa-miR-484	CLIP-seq
MIRT922043	hsa-miR-488	CLIP-seq
MIRT1973119	hsa-miR-939	CLIP-seq
MIRT2208771	hsa-miR-193a-3p	CLIP-seq
MIRT2208772	hsa-miR-193b	CLIP-seq
MIRT2208773	hsa-miR-3195	CLIP-seq
MIRT2208774	hsa-miR-3197	CLIP-seq
MIRT922043	hsa-miR-488	CLIP-seq
MIRT2208775	hsa-miR-499-3p	CLIP-seq
MIRT2208776	hsa-miR-499a-3p	CLIP-seq
MIRT922061	hsa-miR-617	CLIP-seq
MIRT2208777	hsa-miR-873	CLIP-seq
MIRT2208778	hsa-miR-892b	CLIP-seq

10 Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22085962
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS
GO:0016020	Component	Membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060170	Component	Ciliary membrane	IEA

MIM	HGNC	e!Ensembl
618713	18525	ENSG00000205795

Q717R9

Protein name

Cystin-1 (Cilia-associated protein)

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in the kidney and pancreas. Moderate expression seen in the skeletal muscle, liver and heart. A weak expression seen in the brain, lung, uterus, prostate, testis, small intestine and colon.

Sequence

MGSGSSRSSRTLRRRRSPESLPAGPGAAALEGGTRRRVPVAAAEVPGAAAEEAPGRDPSP
VAPPDGRDETLRLLDELLAESAAWGPPEPAPRRPARLRPTAVAGSAVCAEQSTEGHPGSG
NVSEAPGSGRKKPERPAAISYDHSEEGLMASIEREYCR

Sequence length

158

Interactions

View interactions

Reactome Pathway
Trafficking of myristoylated proteins to the cilium

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive polycystic kidney disease	Pathogenic	rs1201981092	RCV002260544	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (6)
ATRIAL FIBRILLATION	—	GWAS catalog	40645996	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC BRONCHITIS	—	GWAS catalog	25241909	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	25241909	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	39406924	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASE	—	CTD, ClinGen	11854326, 12239239, 24349431, 34521872, 6624875	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet, ClinGen	34521872, ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (9)
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	19850956		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bronchitis, Chronic	Gastric Cancer	GWASCAT_DG	25241909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	25241909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	26646725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	26646725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	12733055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	26646725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	17061121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34129933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CYS1 (cystin 1)

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