SCAP (SREBF chaperone)

2013-06-01  

Identity

HGNC
SCAP
LOCATION
3p21.31
LOCUSID
22937
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22937
MIM: 601510
HGNC: 30634
Ensembl: ENSG00000114650

Variants:

dbSNP: 22937
ClinVar: 22937
TCGA: ENSG00000114650
COSMIC: SCAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114650ENST00000265565Q12770
ENSG00000114650ENST00000320017F8W9W7
ENSG00000114650ENST00000416208F8WDP3
ENSG00000114650ENST00000416847C9JQ35
ENSG00000114650ENST00000428413F8WEH8
ENSG00000114650ENST00000441517F8W921
ENSG00000114650ENST00000448217C9JFY0
ENSG00000114650ENST00000495603D6RA39
ENSG00000114650ENST00000545718A0A0A0MTG6
ENSG00000114650ENST00000648151Q12770

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444516HypercholesterolemiaDiseaseClinicalAnnotationassociatedPD16158080
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD18435918
PA451363simvastatinChemicalClinicalAnnotationassociatedPD16158080

References

Pubmed IDYearTitleCitations
234404222013An essential requirement for the SCAP/SREBP signaling axis to protect cancer cells from lipotoxicity.53
265551732015Glucose-Mediated N-glycosylation of SCAP Is Essential for SREBP-1 Activation and Tumor Growth.50
181957162009Association between the insulin-induced gene 2 (INSIG2) and weight gain in a German sample of antipsychotic-treated schizophrenic patients: perturbation of SREBP-controlled lipogenesis in drug-related metabolic adverse effects?30
198785692009Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.28
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
244783152014Sterol regulatory element-binding protein (SREBP) cleavage regulates Golgi-to-endoplasmic reticulum recycling of SREBP cleavage-activating protein (SCAP).21
197066012009The sterol-sensing endoplasmic reticulum (ER) membrane protein TRC8 hampers ER to Golgi transport of sterol regulatory element-binding protein-2 (SREBP-2)/SREBP cleavage-activated protein and reduces SREBP-2 cleavage.20
200315512008Pharmacogenetic predictors of statin-mediated low-density lipoprotein cholesterol reduction and dose response.15
199489752009Integrative predictive model of coronary artery calcification in atherosclerosis.13
235644522013Point mutation in luminal loop 7 of Scap protein blocks interaction with loop 1 and abolishes movement to Golgi.13

Citation

Dessen P

SCAP (SREBF chaperone)

Atlas Genet Cytogenet Oncol Haematol. 2013-06-01

Online version: http://atlasgeneticsoncology.org/gene/53340/scap