Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
192668
Gene name Gene Name - the full gene name approved by the HGNC.
Cystin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYS1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.1
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22085962
GO:0005829 Component Cytosol TAS
GO:0005856 Component Cytoskeleton IEA
GO:0005929 Component Cilium TAS
GO:0060170 Component Ciliary membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618713 18525 ENSG00000205795
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 25241909 ClinVar
Cystic Kidney Disease polycystic kidney disease GenCC
Gout Gout GWAS
Associations from Text Mining
Disease Name Relationship Type References
Kidney Diseases Cystic Associate 26646725
Stomach Neoplasms Associate 34129933