RSRC1 (arginine and serine rich coiled-coil 1)

2018-07-01  

Identity

HGNC
RSRC1
LOCATION
3q25.32
LOCUSID
51319
ALIAS
BM-011,MRT70,SFRS21,SRrp53
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51319
MIM: 613352
HGNC: 24152
Ensembl: ENSG00000174891

Variants:

dbSNP: 51319
ClinVar: 51319
TCGA: ENSG00000174891
COSMIC: RSRC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174891ENST00000295930Q96IZ7
ENSG00000174891ENST00000312179Q96IZ7
ENSG00000174891ENST00000464171Q96IZ7
ENSG00000174891ENST00000471994C9J367
ENSG00000174891ENST00000475278C9J713
ENSG00000174891ENST00000476899C9JVB3
ENSG00000174891ENST00000477788H7C558
ENSG00000174891ENST00000480119F8WDM0
ENSG00000174891ENST00000480820Q96IZ7
ENSG00000174891ENST00000482822H7C5Q0
ENSG00000174891ENST00000494002C9J8Q2
ENSG00000174891ENST00000611884Q96IZ7

Expression (GTEx)

0
5
10
15
20
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

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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
322271642020RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.5
322271642020RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.5
312574922019RSRC1 suppresses gastric cancer cell proliferation and migration by regulating PTEN expression.4
312574922019RSRC1 suppresses gastric cancer cell proliferation and migration by regulating PTEN expression.4
295221542018RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.11
296532272018RSRC1 and CPZ gene polymorphisms with neuroblastoma susceptibility in Chinese children.4
295221542018RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.11
296532272018RSRC1 and CPZ gene polymorphisms with neuroblastoma susceptibility in Chinese children.4
259371182015RSRC1 SUMOylation enhances SUMOylation and inhibits transcriptional activity of estrogen receptor β.5
259371182015RSRC1 SUMOylation enhances SUMOylation and inhibits transcriptional activity of estrogen receptor β.5
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
190651462009Gene discovery through imaging genetics: identification of two novel genes associated with schizophrenia.50

Citation

Dessen P

RSRC1 (arginine and serine rich coiled-coil 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57497/css/lib/js/haematological-explorer/