Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	192668
Gene name	Cystin 1
Gene symbol	CYS1
Synonyms (NCBI Gene)	-
Chromosome	2
Chromosome location	2p25.1

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

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
			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)

Show/Hide Causal Diseases (1)

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)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC BRONCHITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASE	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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)