CYS1 (cystin 1)

2014-11-01 Affiliation

Identity

HGNC

CYS1

LOCATION

2p25.1

LOCUSID

192668

ALIAS

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 192668
MIM: 618713
HGNC: 18525
Ensembl: ENSG00000205795

Variants:

dbSNP: 192668
ClinVar: 192668
TCGA: ENSG00000205795
COSMIC: CYS1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000205795	ENST00000381813	Q717R9

Expression (GTEx)

100

150

200

250

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Cargo trafficking to the periciliary membrane	REACTOME	R-HSA-5620920
Trafficking of myristoylated proteins to the cilium	REACTOME	R-HSA-5624138

References

Pubmed ID	Year	Title	Citations
34521872	2021	Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.	9
34521872	2021	Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.	9
12733055	2003	Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.	3
12733055	2003	Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.	3

Citation

Dessen P

CYS1 (cystin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62273/cys1-(cystin-1)