RCAN1 (regulator of calcineurin 1)

2009-05-01  

Identity

HGNC
RCAN1
LOCATION
21q22.12
LOCUSID
1827
ALIAS
ADAPT78,CSP1,DSC1,DSCR1,MCIP1,RCN1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1827
MIM: 602917
HGNC: 3040
Ensembl: ENSG00000159200

Variants:

dbSNP: 1827
ClinVar: 1827
TCGA: ENSG00000159200
COSMIC: RCAN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159200ENST00000313806P53805
ENSG00000159200ENST00000381132P53805
ENSG00000159200ENST00000381132Q6FGP2
ENSG00000159200ENST00000381135E9PDJ2
ENSG00000159200ENST00000399272P53805
ENSG00000159200ENST00000443408P53805
ENSG00000159200ENST00000481448E9PD55
ENSG00000159200ENST00000482533P53805
ENSG00000159200ENST00000487990P53805
ENSG00000159200ENST00000492600V9GYW9
ENSG00000159200ENST00000620920P53805

Expression (GTEx)

0
10
20
30
40
50
60
70
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

PathwaySourceExternal ID
Thyroid hormone signaling pathwayKEGGhsa04919
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
108612952000DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways.149
194586182009Down's syndrome suppression of tumour growth and the role of the calcineurin inhibitor DSCR1.123
154481462004Vascular endothelial growth factor- and thrombin-induced termination factor, Down syndrome critical region-1, attenuates endothelial cell proliferation and angiogenesis.86
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
202982002010Confirmed rare copy number variants implicate novel genes in schizophrenia.54
150166502004Down syndrome critical region protein 1 (DSCR1), a novel VEGF target gene that regulates expression of inflammatory markers on activated endothelial cells.52
195093062009Degradation of regulator of calcineurin 1 (RCAN1) is mediated by both chaperone-mediated autophagy and ubiquitin proteasome pathways.43
212169522011Regulator of calcineurin 1 (RCAN1) facilitates neuronal apoptosis through caspase-3 activation.41
162310932005Multiple roles of the DSCR1 (Adapt78 or RCAN1) gene and its protein product calcipressin 1 (or RCAN1) in disease.38
183219532008Gene expression profiling in human skeletal muscle during recovery from eccentric exercise.35

Citation

Dessen P

RCAN1 (regulator of calcineurin 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50865/rcan1