SCAP (SREBF chaperone)

Gene

• Entrez ID: 22937
• Gene name: SREBF chaperone
• Gene symbol: SCAP
• Synonyms (NCBI Gene): -
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and mediates their transport from the ER to the Golgi. The SREBP

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047561	hsa-miR-10a-5p	CLASH	23622248
MIRT047270	hsa-miR-181b-5p	CLASH	23622248
MIRT041708	hsa-miR-484	CLASH	23622248
MIRT038810	hsa-miR-93-3p	CLASH	23622248
MIRT2321741	hsa-miR-148a	CLIP-seq
MIRT2321742	hsa-miR-148b	CLIP-seq
MIRT2321743	hsa-miR-152	CLIP-seq
MIRT2321744	hsa-miR-1827	CLIP-seq
MIRT2321745	hsa-miR-328	CLIP-seq
MIRT2321746	hsa-miR-33a	CLIP-seq
MIRT2321747	hsa-miR-33b	CLIP-seq
MIRT2321748	hsa-miR-3612	CLIP-seq
MIRT2321749	hsa-miR-3652	CLIP-seq
MIRT2321750	hsa-miR-4276	CLIP-seq
MIRT2321751	hsa-miR-4430	CLIP-seq
MIRT2321752	hsa-miR-4433	CLIP-seq
MIRT2321753	hsa-miR-4459	CLIP-seq
MIRT2321754	hsa-miR-4695-5p	CLIP-seq
MIRT2321755	hsa-miR-4768-3p	CLIP-seq
MIRT2321756	hsa-miR-4795-3p	CLIP-seq
MIRT2321757	hsa-miR-556-3p	CLIP-seq
MIRT2321758	hsa-miR-582-5p	CLIP-seq
MIRT2321759	hsa-miR-650	CLIP-seq
MIRT2321760	hsa-miR-656	CLIP-seq
MIRT2321761	hsa-miR-7	CLIP-seq
MIRT2321762	hsa-miR-885-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	32111832
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001666	Process	Response to hypoxia	IEA
GO:0005515	Function	Protein binding	IPI	17428920, 19706601, 32111832
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	NAS	11726962
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	32111832
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	NAS	11726962
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006955	Process	Immune response	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	ISS
GO:0008289	Function	Lipid binding	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11726962
GO:0019217	Process	Regulation of fatty acid metabolic process	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032933	Process	SREBP signaling pathway	IDA	32322062
GO:0032933	Process	SREBP signaling pathway	IEA
GO:0032933	Process	SREBP signaling pathway	IMP	11726962
GO:0032934	Function	Sterol binding	IEA
GO:0032934	Function	Sterol binding	ISS
GO:0032936	Component	SREBP-SCAP complex	IBA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033552	Process	Response to vitamin B3	IEA
GO:0042304	Process	Regulation of fatty acid biosynthetic process	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045540	Process	Regulation of cholesterol biosynthetic process	IBA
GO:0045540	Process	Regulation of cholesterol biosynthetic process	IEA
GO:0045541	Process	Negative regulation of cholesterol biosynthetic process	NAS
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IDA	32322062
GO:0051082	Function	Unfolded protein binding	NAS	11726962
GO:0090110	Process	COPII-coated vesicle cargo loading	ISS

Other IDs

• MIM: 601510
• HGNC: 30634
• e!Ensembl: ENSG00000114650

Protein

• UniProt ID: Q12770
• Protein name: Sterol regulatory element-binding protein cleavage-activating protein (SCAP) (SREBP cleavage-activating protein)
• Protein function: Escort protein required for cholesterol as well as lipid homeostasis (By similarity). Regulates export of the SCAP-SREBP complex from the endoplasmic reticulum to the Golgi upon low cholesterol, thereby regulating the processing of sterol regula
• PDB: 6M49, 7ETW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12349	Sterol-sensing	308 → 457	Sterol-sensing domain of SREBP cleavage-activation	Family
  PF00400	WD40	1109 → 1146	WD domain, G-beta repeat	Repeat

• Sequence:

  MTLTERLREKISRAFYNHGLLCASYPIPIILFTGFCILACCYPLLKLPLPGTGPVEFTTP
  VKDYSPPPVDSDRKQGEPTEQPEWYVGAPVAYVQQIFVKSSVFPWHKNLLAVDVFRSPLS
  RAFQLVEEIRNHVLRDSSGIRSLEELCLQVTDLLPGLRKLRNLLPEHGCLLLSPGNFWQN
  DWERFHADPDIIGTIHQHEPKTLQTSATLKDLLFGVPGKYSGVSLYTRKRMVSYTITLVF
  QHYHAKFLGSLRARLMLLHPSPNCSLRAESLVHVHFKEEIGVAELIPLVTTYIILFAYIY
  FSTRKIDMVKSKWGLALAAVVTVLSSLLMSVGLCTLFGLTPTLNGGEIFPYLVVVIGLEN
  VLVLTKSVVSTPVDLEVKLRIAQGLSSESWSIMKNMATELGIILIGYFTLVPAIQEFCLF
  AVVGLVSDFFLQMLFFTTVLSIDIRRMELADLNKRLPPEACLPSAKPVGQPTRYERQLAV
  RPSTPHTITLQPSSFRNLRLPKRLRVVYFLARTRLAQRLIMAGTVVWIGILVYTDPAGLR
  NYLAAQVTEQSPLGEGALAPMPVPSGMLPPSHPDPAFSIFPPDAPKLPENQTSPGESPER
  GGPAEVVHDSPVPEVTWGPEDEELWRKLSFRHWPTLFSYYNITLAKRYISLLPVIPVTLR
  LNPREALEGRHPQDGRSAWPPPGPIPAGHWEAGPKGPGGVQAHGDVTLYKVAALGLATGI
  VLVLLLLCLYRVLCPRNYGQLGGGPGRRRRGELPCDDYGYAPPETEIVPLVLRGHLMDIE
  CLASDGMLLVSCCLAGHVCVWDAQTGDCLTRIPRPGRQRRDSGVGSGLEAQESWERLSDG
  GKAGPEEPGDSPPLRHRPRGPPPPSLFGDQPDLTCLIDTNFSAQPRSSQPTQPEPRHRAV
  CGRSRDSPGYDFSCLVQRVYQEEGLAAVCTPALRPPSPGPVLSQAPEDEGGSPEKGSPSL
  AWAPSAEGSIWSLELQGNLIVVGRSSGRLEVWDAIEGVLCCSSEEVSSGITALVFLDKRI
  VAARLNGSLDFFSLETHTALSPLQFRGTPGRGSSPASPVYSSSDTVACHLTHTVPCAHQK
  PITALKAAAGRLVTGSQDHTLRVFRLEDSCCLFTLQGHSGAITTVYIDQTMVLASGGQDG
  AICLWDVLTGSRVSHVFAHRGDVTSLTCTTSCVISSGLDDLISIWDRSTGIKFYSIQQDL
  GCGASLGVISDNLLVTGGQGCVSFWDLNYGDLLQTVYLGKNSEAQPARQILVLDNAAIVC
  NFGSELSLVYVPSVLEKLD

• Sequence length: 1279

Pathways

Reactome:

Regulation of cholesterol biosynthesis by SREBP (SREBF)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	21284674		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16466730, 28491104, 30462530		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	12436350	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16466730, 28491104, 30462530		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31400930		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31360104		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30394316		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31360104		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19424605		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19740467		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30907055	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	24191141	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28521874		★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	BEFREE	31039139		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26555173, 27477273		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26555173, 27477273		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	37437369	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	32811528	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlysinemias	Hyperlipidemia	Pubtator	21511699	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	28542467	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28542467		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	25896350		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	14563831		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30638930		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30394316		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31083642		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31360104		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26555173, 31360104		★☆☆☆☆ Found in Text Mining only
Mesangial sclerosis diffuse	Diffuse mesangial sclerosis	Pubtator	21511699	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	26555173, 30562550		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26982812, 27885915		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17383658		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	17383658		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25028659, 28542467	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	31360104	Associate	★☆☆☆☆ Found in Text Mining only