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Aliases for SCAP Gene

Aliases for SCAP Gene

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

External Ids for SCAP Gene

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. [provided by RefSeq, Jul 2008]

GeneCards Summary for SCAP Gene

SCAP (SREBF Chaperone) is a Protein Coding gene. Diseases associated with SCAP include smith-lemli-opitz syndrome. Among its related pathways are Regulation of Cholesterol Biosynthesis by SREBP (SREBF) and Metabolism. GO annotations related to this gene include protein complex binding and unfolded protein binding. An important paralog of this gene is NPC1L1.

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

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

Genomics for SCAP Gene

Genomic Location for SCAP Gene

Start:
47,413,694 bp from pter
End:
47,477,126 bp from pter
Size:
63,433 bases
Orientation:
Minus strand

Genomic View for SCAP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SCAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCAP Gene

Regulatory Elements 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

Proteomics data for SCAP Gene at MOPED

Post-translational modifications for SCAP Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys842
  • Glycosylation at Asn263, Asn590, and Asn641

Other Protein References for SCAP Gene

No data available for DME Specific Peptides for SCAP Gene

Domains for SCAP Gene

Gene Families for SCAP Gene

HGNC:
  • WDR :WD repeat domain containing

Protein Domains for SCAP Gene

UniProtKB/Swiss-Prot:

SCAP_HUMAN
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.:
    • Q12770
  • Contains 1 SSD (sterol-sensing) domain.:
    • Q12770
Family:
  • Belongs to the WD repeat SCAP family.:
    • Q12770
Similarity:
  • Contains 7 WD repeats.:
    • Q12770
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).

Gene Ontology (GO) - Molecular Function for SCAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19706601
GO:0008158 hedgehog receptor activity --
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

Phenotypes for SCAP Gene

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

miRNA for SCAP Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for SCAP Gene COMPARTMENTS Subcellular localization image for SCAP gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
nucleus 2

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

Pathways for SCAP Gene

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

Pathways by source for SCAP Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for SCAP Gene
1 Qiagen 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:0007568 aging IEA --
GO:0008203 cholesterol metabolic process IEA --
GO:0019217 regulation of fatty acid metabolic process --
GO:0032868 response to insulin IEA --
genes like me logo Genes that share ontologies with SCAP: view

Compounds for SCAP Gene

(1) HMDB Compounds for SCAP Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(11) Novoseek inferred chemical compound relationships for SCAP Gene

Compound -log(P) Hits PubMed IDs
sterol 91.7 62
cholesterol 73.2 32
25-hydroxycholesterol 67 2
lipid 49.1 11
lovastatin 48.5 2

(2) PharmGKB related drug/compound annotations for SCAP Gene

Drug/compound Annotation
atorvastatin CA
simvastatin CA
genes like me logo Genes that share compounds with SCAP: view

Transcripts for SCAP Gene

Unigene Clusters for SCAP Gene

SREBF chaperone:
Representative Sequences:

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 for SCAP Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SCAP Gene

SOURCE GeneReport for Unigene cluster for SCAP Gene Hs.531789

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

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 36
  • 98.59 (n)
  • 98.53 (a)
SCAP 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SCAP 36
  • 88.75 (n)
  • 92.72 (a)
SCAP 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCAP 36
  • 90.14 (n)
  • 93.34 (a)
SCAP 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scap 36
  • 87.7 (n)
  • 92.16 (a)
Scap 16
Scap 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCAP 37
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scap 36
  • 87.77 (n)
  • 92.71 (a)
chicken
(Gallus gallus)
Aves SCAP 36
  • 74.67 (n)
  • 78.68 (a)
SCAP 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCAP 37
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16805 36
tropical clawed frog
(Silurana tropicalis)
Amphibia scap 36
  • 70.28 (n)
  • 73.08 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC558292 36
  • 67.94 (n)
  • 72.46 (a)
scap 37
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011336 36
  • 48.99 (n)
  • 38.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta SCAP 36
  • 46.92 (n)
  • 37.39 (a)
SCAP 37
  • 32 (a)
OneToOne
SCAP 38
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea scp-1 36
  • 41.82 (n)
  • 30.59 (a)
scp-1 37
  • 26 (a)
OneToOne
scp-1 38
  • 29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCR1 37
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 36 (a)
OneToOne
Species with no ortholog for SCAP:
  • 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 Sequence Context AA Info Type MAF
rs754498 -- 47,416,098(-) GGGGC(A/G)TCCCT intron-variant
rs878659 -- 47,459,172(-) CAAGA(C/T)ATTGT intron-variant
rs881264 -- 47,458,608(+) ACCAA(A/T)TTATA intron-variant
rs900690 -- 47,420,710(+) GGCTG(C/T)CCCAC reference, synonymous-codon
rs900691 -- 47,421,097(+) GCAGT(A/G)CCCGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv428417 CNV Loss 18775914
nsv876756 CNV Gain 21882294
nsv3805 CNV Insertion 18451855
esv1471808 CNV Insertion 17803354
esv998559 CNV Insertion 20482838
nsv511233 CNV Loss 21212237
nsv3806 CNV Loss 18451855
nsv436375 CNV Deletion 17901297
nsv513046 CNV Loss 21212237
esv4049 CNV Deletion 18987735
esv2725241 CNV Deletion 23290073
esv2677458 CNV Deletion 23128226
nsv498999 CNV Loss 21111241
esv7925 CNV Loss 19470904
esv23620 CNV Loss 19812545
dgv805n67 CNV Loss 20364138
nsv514150 CNV Loss 21397061

Relevant External Links for SCAP Gene

HapMap Linkage Disequilibrium report
SCAP
Human Gene Mutation Database (HGMD)
SCAP

Disorders for SCAP Gene

(1) University of Copenhagen DISEASES for SCAP Gene

(6) Novoseek inferred disease relationships for SCAP Gene

Disease -log(P) Hits PubMed IDs
hypercholesterolemia 41.4 1
dyslipidemia 30.9 1
atherosclerosis 26.4 2
necrosis 0 1
tumors 0 2

Relevant External Links for SCAP

Genetic Association Database (GAD)
SCAP
Human Genome Epidemiology (HuGE) Navigator
SCAP
genes like me logo Genes that share disorders with SCAP: view

No data available for UniProtKB/Swiss-Prot 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. (J. Hum. Genet. 1999) 2 3 4 23
  2. A common Ile796Val polymorphism of the human SREBP cleavage- activating protein (SCAP) gene. (PMID: 10570919) Iwaki K. … Emi M. (J. Hum. Genet. 1999) 3 4 23
  3. 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. … LehtimAoki T. (Metab. Clin. Exp. 2007) 3 23 49
  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 Y.M. … LehtimAoki T. (Thromb J 2008) 3 23 49
  5. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8724849) Nagase T. … Nomura N. (DNA Res. 1996) 2 3 4

Products for SCAP Gene

Sources for SCAP Gene

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