Gene Gene information from NCBI Gene database.
Entrez ID 192668
Gene name Cystin 1
Gene symbol CYS1
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2p25.1
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618713 18525 ENSG00000205795
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Trafficking of myristoylated proteins to the cilium
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive polycystic kidney disease Pathogenic rs1201981092 RCV002260544
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Kidney Diseases Cystic Associate 26646725
Stomach Neoplasms Associate 34129933