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Aliases for SCAP Gene

Aliases for SCAP Gene

  • SREBF Chaperone 2 3 5
  • SREBP Cleavage Activating Protein 2
  • SREBP Cleavage-Activating Protein 4
  • KIAA0199 4

External Ids for SCAP Gene

Previous GeneCards Identifiers for SCAP Gene

  • GC03M047243
  • GC03M046675
  • GC03M047415
  • GC03M047430

Summaries for SCAP Gene

Entrez Gene Summary for SCAP Gene

  • 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 SREBPs are then proteolytically cleaved and regulate sterol biosynthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

GeneCards Summary for SCAP Gene

SCAP (SREBF Chaperone) is a Protein Coding gene. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Metabolism. Gene Ontology (GO) annotations related to this gene include protein complex binding and cholesterol binding. An important paralog of this gene is HMGCR.

UniProtKB/Swiss-Prot for SCAP Gene

  • Escort protein required for cholesterol as well as lipid homeostasis. Regulates export of the SCAP/SREBF complex from the ER upon low cholesterol. Formation of a ternary complex with INSIG at high sterol concentrations leads to masking of an ER-export signal in SCAP and retention of the complex in the ER. Low sterol concentrations trigger release of INSIG, a conformational change in the SSC domain of SCAP, unmasking of the ER export signal, recruitment into COPII-coated vesicles, transport to the Golgi complex, proteolytic cleavage of SREBF in the Golgi, release of the transcription factor fragment of SREBF from the membrane, its import into the nucleus and up-regulation of LDLR, INSIG1 and the mevalonate pathway (By similarity).

Gene Wiki entry for SCAP Gene

Additional gene information for SCAP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCAP Gene

Genomics for SCAP Gene

GeneHancer (GH) Regulatory Elements for SCAP Gene

Promoters and enhancers for SCAP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I047474 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.1 +1.3 1338 2.8 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 SCAP LOC105377073 GC03P047477 TREX1 ZNF589 NBEAL2 MAP4 ENSG00000276925
GH03I047477 Enhancer 0.3 ENCODE 550.8 -1.1 -1059 0.6 MEIS2 SCAP LOC105377073 GC03P047477 PTH1R GC03P047492
GH03I048085 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.3 -610.8 -610775 5.3 CLOCK FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF263 MAP4 ATRIP DHX30 ZNF589 ENSG00000235236 SETD2 PTPN23 TMEM89 KLHL18 ENSG00000260236
GH03I047379 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.5 +96.4 96437 3.3 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PTPN23 ENSG00000260236 NME6 SETD2 MRPS18AP1 ZNF589 CCDC12 BOLA2P2 NBEAL2 SCAP
GH03I046973 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.3 +498.7 498701 9.7 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B NBEAL2 CCDC12 FYCO1 SCAP XCR1 PTH1R BOLA2P2 GC03P046964
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SCAP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SCAP gene promoter:

Genomic Locations for SCAP Gene

Genomic Locations for SCAP Gene
chr3:47,413,694-47,477,126
(GRCh38/hg38)
Size:
63,433 bases
Orientation:
Minus strand
chr3:47,455,184-47,518,616
(GRCh37/hg19)

Genomic View for SCAP Gene

Genes around SCAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCAP Gene

Proteins for SCAP Gene

  • Protein details for SCAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12770-SCAP_HUMAN
    Recommended name:
    Sterol regulatory element-binding protein cleavage-activating protein
    Protein Accession:
    Q12770
    Secondary Accessions:
    • Q8N2E0
    • Q8WUA1

    Protein attributes for SCAP Gene

    Size:
    1279 amino acids
    Molecular mass:
    139729 Da
    Quaternary structure:
    • Membrane region forms a homotetramer. Forms a stable complex with SREBF1/SREBP1 or SREBF2/SREBP2 through its C-terminal cytoplasmic domain. Forms a ternary complex with INSIG1 or INSIG2 through its transmembrane domains at high sterol concentrations. Interacts with the SEC23/SEC24 complex in a SAR1-GTP-dependent manner through an ER export signal in its third cytoplasmic loop. Binds cholesterol through its SSC domain (By similarity). Component of SCAP/SREBP complex composed of SREBF2, SCAP and RNF139; the complex hampers the interaction between SCAP and SEC24B, thereby reducing SREBF2 proteolytic processing. Interacts with RNF139; the interaction inhibits the interaction of SCAP with SEC24B and hampering the ER to Golgi transport of the SCAP/SREBP complex.
    SequenceCaution:
    • Sequence=BAA12111.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC11673.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SCAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCAP Gene

Post-translational modifications for SCAP Gene

  • Ubiquitination at posLast=842842
  • Glycosylation at isoforms=3263, posLast=590590, and posLast=641641
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SCAP Gene

Domains & Families for SCAP Gene

Gene Families for SCAP Gene

Suggested Antigen Peptide Sequences for SCAP Gene

Graphical View of Domain Structure for InterPro Entry

Q12770

UniProtKB/Swiss-Prot:

SCAP_HUMAN :
  • Cholesterol bound to SSC domain of SCAP or oxysterol bound to INSIG1/2 leads to masking of an ER export signal on SCAP possibly by moving the signal further away from the ER membrane.
  • Belongs to the WD repeat SCAP family.
Domain:
  • Cholesterol bound to SSC domain of SCAP or oxysterol bound to INSIG1/2 leads to masking of an ER export signal on SCAP possibly by moving the signal further away from the ER membrane.
Family:
  • Belongs to the WD repeat SCAP family.
genes like me logo Genes that share domains with SCAP: view

Function for SCAP Gene

Molecular function for SCAP Gene

UniProtKB/Swiss-Prot Function:
Escort protein required for cholesterol as well as lipid homeostasis. Regulates export of the SCAP/SREBF complex from the ER upon low cholesterol. Formation of a ternary complex with INSIG at high sterol concentrations leads to masking of an ER-export signal in SCAP and retention of the complex in the ER. Low sterol concentrations trigger release of INSIG, a conformational change in the SSC domain of SCAP, unmasking of the ER export signal, recruitment into COPII-coated vesicles, transport to the Golgi complex, proteolytic cleavage of SREBF in the Golgi, release of the transcription factor fragment of SREBF from the membrane, its import into the nucleus and up-regulation of LDLR, INSIG1 and the mevalonate pathway (By similarity).
UniProtKB/Swiss-Prot Induction:
By androgen-bound AR and glucocorticoid-bound NR3C1 in a prostate cancer cell line (LNCaP).

Phenotypes From GWAS Catalog for SCAP Gene

Gene Ontology (GO) - Molecular Function for SCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19706601
GO:0015485 cholesterol binding IEA --
GO:0032403 protein complex binding IEA --
GO:0051082 unfolded protein binding NAS 11726962
genes like me logo Genes that share ontologies with SCAP: view
genes like me logo Genes that share phenotypes with SCAP: view

Animal Model Products

CRISPR Products

miRNA for SCAP Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SCAP Gene

Localization for SCAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCAP Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cytoplasmic vesicle, COPII-coated vesicle membrane; Multi-pass membrane protein. Note=Moves from the endoplasmic reticulum to the Golgi in the absence of sterols. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCAP gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
nucleus 2
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum NAS 11726962
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus NAS 11726962
GO:0012507 ER to Golgi transport vesicle membrane IEA --
genes like me logo Genes that share ontologies with SCAP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SCAP Gene

Pathways & Interactions for SCAP Gene

genes like me logo Genes that share pathways with SCAP: view

Pathways by source for SCAP Gene

1 Qiagen pathway for SCAP Gene
1 Cell Signaling Technology pathway for SCAP Gene

Gene Ontology (GO) - Biological Process for SCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006629 lipid metabolic process IEA --
GO:0007568 aging IEA --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
genes like me logo Genes that share ontologies with SCAP: view

No data available for SIGNOR curated interactions for SCAP Gene

Drugs & Compounds for SCAP Gene

(10) Drugs for SCAP Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 537
atorvastatin Approved Pharma Competitive, Inhibitor 0
Guanosine triphosphate Experimental Pharma 0

(3) Additional Compounds for SCAP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SCAP: view

Transcripts for SCAP Gene

Unigene Clusters for SCAP Gene

SREBF chaperone:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCAP Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a ·
SP1: - - - - -
SP2: - - - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - -
SP4:
SP5: - - - - - - - -
SP6: - - - - - - - - - - - - - - - - -
SP7: -
SP8:
SP9: -
SP10: -
SP11:
SP12:

ExUns: 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for SCAP Gene

GeneLoc Exon Structure for
SCAP
ECgene alternative splicing isoforms for
SCAP

Expression for SCAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCAP Gene

Protein differential expression in normal tissues from HIPED for SCAP Gene

This gene is overexpressed in Testis (37.3), Fetal testis (14.5), and Retina (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SCAP Gene



Protein tissue co-expression partners for SCAP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCAP Gene:

SCAP

SOURCE GeneReport for Unigene cluster for SCAP Gene:

Hs.531789

Evidence on tissue expression from TISSUES for SCAP Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Intestine(4.3)
  • Bone marrow(4.2)
  • Kidney(2.4)
genes like me logo Genes that share expression patterns with SCAP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SCAP Gene

Orthologs for SCAP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SCAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCAP 33 34
  • 98.59 (n)
dog
(Canis familiaris)
Mammalia SCAP 33 34
  • 90.14 (n)
cow
(Bos Taurus)
Mammalia SCAP 33 34
  • 88.75 (n)
rat
(Rattus norvegicus)
Mammalia Scap 33
  • 87.77 (n)
mouse
(Mus musculus)
Mammalia Scap 33 16 34
  • 87.7 (n)
oppossum
(Monodelphis domestica)
Mammalia SCAP 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCAP 33 34
  • 74.67 (n)
lizard
(Anolis carolinensis)
Reptilia SCAP 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scap 33
  • 70.28 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16805 33
zebrafish
(Danio rerio)
Actinopterygii scap 34
  • 70 (a)
OneToOne
LOC558292 33
  • 67.94 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011336 33
  • 48.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta SCAP 35 33 34
  • 46.92 (n)
worm
(Caenorhabditis elegans)
Secernentea scp-1 35 33 34
  • 41.82 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCR1 34
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToOne
Species where no ortholog for SCAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SCAP Gene

ENSEMBL:
Gene Tree for SCAP (if available)
TreeFam:
Gene Tree for SCAP (if available)

Paralogs for SCAP Gene

Paralogs for SCAP Gene

genes like me logo Genes that share paralogs with SCAP: view

Variants for SCAP Gene

Sequence variations from dbSNP and Humsavar for SCAP Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000012543 -- 47,448,947(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000078940 -- 47,448,515(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000162307 -- 47,421,444(-) A/G intron_variant
rs1000179428 -- 47,427,652(-) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, synonymous_variant
rs1000220495 -- 47,455,466(-) G/A/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SCAP Gene

Variant ID Type Subtype PubMed ID
dgv125n73 CNV deletion 24416366
dgv1374e212 CNV loss 25503493
dgv2521n106 CNV deletion 24896259
dgv805n67 CNV loss 20364138
dgv8309n54 CNV loss 21841781
dgv8310n54 CNV loss 21841781
dgv8311n54 CNV gain+loss 21841781
dgv8312n54 CNV loss 21841781
dgv8313n54 CNV gain 21841781
esv1471808 CNV insertion 17803354
esv23620 CNV loss 19812545
esv2677458 CNV deletion 23128226
esv2725241 CNV deletion 23290073
esv3380699 CNV duplication 20981092
esv3561841 CNV deletion 23714750
esv3568736 CNV loss 25503493
esv3596080 CNV loss 21293372
esv4049 CNV loss 18987735
esv7925 CNV loss 19470904
esv998559 CNV insertion 20482838
nsv1071495 CNV deletion 25765185
nsv3805 CNV insertion 18451855
nsv3806 CNV deletion 18451855
nsv428417 CNV loss 18775914
nsv436375 CNV deletion 17901297
nsv498999 CNV loss 21111241
nsv511233 CNV loss 21212237
nsv513046 CNV loss 21212237
nsv514150 CNV loss 21397061
nsv590212 CNV gain 21841781
nsv590226 CNV gain+loss 21841781
nsv954480 CNV deletion 24416366

Variation tolerance for SCAP Gene

Residual Variation Intolerance Score: 1.56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.19; 92.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SCAP Gene

Human Gene Mutation Database (HGMD)
SCAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCAP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCAP Gene

Disorders for SCAP Gene

Additional Disease Information for SCAP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SCAP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SCAP Gene

Publications for SCAP Gene

  1. Genomic structure and chromosomal mapping of the human sterol regulatory element binding protein (SREBP) cleavage-activating protein (SCAP) gene. (PMID: 10570913) Nakajima T … Emi M (Journal of human genetics 1999) 2 3 4 22 58
  2. Interactions among genetic variants from SREBP2 activating-related pathway on risk of coronary heart disease in Chinese Han population. (PMID: 19740467) Liu X … Gu D (Atherosclerosis 2010) 3 22 44 58
  3. The 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. (PMID: 19706601) Irisawa M … Sato R (The Journal of biological chemistry 2009) 3 4 22 58
  4. Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death. (PMID: 19116028) Fan YM … Lehtimäki T (Thrombosis journal 2008) 3 22 44 58
  5. The relationship of sterol regulatory element-binding protein cleavage-activation protein and apolipoprotein E gene polymorphisms with metabolic changes during weight reduction. (PMID: 17570245) Nieminen T … Lehtimäki T (Metabolism: clinical and experimental 2007) 3 22 44 58

Products for SCAP Gene

Sources for SCAP Gene

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