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SCAP Gene

protein-coding   GIFtS: 63
GCID: GC03M047430

SREBF Chaperone

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SREBF Chaperone1 2
SREBP Cleavage-Activating Protein2 3
SREBP Cleavage Activating Protein1
Sterol Regulatory Element Binding Protein Cleavage-Activating Protein2
Sterol Regulatory Element-Binding Protein Cleavage-Activating Protein2
KIAA01993

External Ids:    HGNC: 306341   Entrez Gene: 229372   Ensembl: ENSG000001146507   OMIM: 6015105   UniProtKB: Q127703   

Export aliases for SCAP gene to outside databases

Previous GC identifers: GC03M047243 GC03M046675 GC03M047415


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 apocrine adenoma, and syringocystadenoma papilliferum. GO annotations related to this gene include unfolded protein binding and protein complex binding. An important paralog of this gene is PTCH1.

UniProtKB/Swiss-Prot: SCAP_HUMAN, Q12770
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)

Gene Wiki entry for SCAP (SREBP cleavage activating protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SCAP gene promoter:
         Max1   GR   Pax-5   FOXO3   FOXO3b   Egr-4   RORalpha1   c-Rel   FOXO3a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCAP promoter sequence
   Search Chromatin IP Primers for SCAP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCAP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

SCAP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCAP gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M047430:  view genomic region     (about GC identifiers)

Start:
47,455,184 bp from pter      End:
47,518,616 bp from pter
Size:
63,433 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SCAP_HUMAN, Q12770 (See protein sequence)
Recommended Name: Sterol regulatory element-binding protein cleavage-activating protein  
Size: 1279 amino acids; 139729 Da
Subunit: 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
Sequence caution: Sequence=BAA12111.2; Type=Erroneous initiation; Sequence=BAC11673.1; Type=Erroneous initiation;
Secondary accessions: Q8N2E0 Q8WUA1
Alternative splicing: 4 isoforms:  Q12770-1   Q12770-2   Q12770-3   Q12770-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SCAP: NX_Q12770

Explore proteomics data for SCAP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys842
  • Glycosylation2 at Asn263, Asn590, Asn641
  • Modification sites at PhosphoSitePlus

  • See SCAP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036367.2  
    ENSEMBL proteins: 
     ENSP00000324296   ENSP00000265565   ENSP00000409183   ENSP00000401819   ENSP00000408102  
     ENSP00000423419   ENSP00000415195   ENSP00000416847   ENSP00000438956  
    Reactome Protein details: Q12770

    SCAP Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for SCAP

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    Cloud-Clone Corp. CLIAs for SCAP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    5 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR000731 SSD
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q12770

    ProtoNet protein and cluster: Q12770

    UniProtKB/Swiss-Prot: SCAP_HUMAN, Q12770
    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 (By similarity)
    Similarity: Belongs to the WD repeat SCAP family
    Similarity: Contains 1 SSD (sterol-sensing) domain
    Similarity: Contains 7 WD repeats


    SCAP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCAP_HUMAN, Q12770
    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)
    Induction: By androgen-bound AR and glucocorticoid-bound NR3C1 in a prostate cancer cell line (LNCaP)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19706601
    GO:0008158hedgehog receptor activity ----
    GO:0032403protein complex binding IEA--
    GO:0051082unfolded protein binding NAS11726962
         
    SCAP for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Scap):
     homeostasis/metabolism  liver/biliary system 

    SCAP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCAP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SCAP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SCAP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SCAP

    miRNA
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    miRTarBase miRNAs that target SCAP:
    hsa-mir-484 (MIRT041708), hsa-mir-93-3p (MIRT038810), hsa-mir-10a-5p (MIRT047561), hsa-mir-181b-5p (MIRT047270)

    Block miRNA regulation of human, mouse, rat SCAP using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SCAP:
    hsa-miR-152 hsa-miR-582-5p hsa-miR-148b hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidSCAP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SCAP
    Predesigned siRNA for gene silencing in human, mouse, rat SCAP

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SCAP (NM_012235)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCAP

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SCAP 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCAP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SCAP_HUMAN, Q12770: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Golgi apparatus
    membrane; Multi-pass membrane protein (By similarity). Cytoplasmic vesicle, COPII-coated vesicle membrane;
    Multi-pass membrane protein (By similarity). Note=Moves from the endoplasmic reticulum to the Golgi in the
    absence of sterols (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane3
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005783endoplasmic reticulum NAS11726962
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005794Golgi apparatus NAS11726962
    GO:0012507ER to Golgi transport vesicle membrane IEA--

    SCAP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SCAP About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    SREBP signalling0.31
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Transcription Androgen Receptor nuclear signaling
    Transcription Androgen Receptor nuclear signaling0.49
    4Chks in Checkpoint Regulation
    SREBP Proteolysis0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SCAP
        SREBP Proteolysis

    1 GeneGo (Thomson Reuters) Pathway for SCAP
        Transcription Androgen Receptor nuclear signaling

    1 BioSystems Pathway for SCAP
        SREBP signalling

    1 Reactome Pathway for SCAP
        Regulation of cholesterol biosynthesis by SREBP (SREBF)



    SCAP for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SCAP: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Unfolded Protein Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SCAP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for SCAP (Q127703 ENSP000002655654) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    INSIG1O155033, ENSP000003447414I2D: score=4 STRING: ENSP00000344741
    INSIG2Q9Y5U43, ENSP000002457874I2D: score=4 STRING: ENSP00000245787
    SEC24BO954873, ENSP000002651754I2D: score=1 STRING: ENSP00000265175
    PGRMC1O002643, ENSP000002179714I2D: score=2 STRING: ENSP00000217971
    SREBF2Q127723, ENSP000003544764I2D: score=1 STRING: ENSP00000354476
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0007568aging IEA--
    GO:0008203cholesterol metabolic process IEA--
    GO:0019217regulation of fatty acid metabolic process ----
    GO:0032868response to insulin IEA--

    SCAP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SCAP

    1 HMDB Compound for SCAP    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Selected Novoseek inferred chemical compound relationships for SCAP gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterol 91.7 86 10500160 (6), 9642295 (3), 15133039 (2), 12242332 (2) (see all 45)
    cholesterol 73.2 45 12191470 (4), 15260976 (4), 15728349 (3), 12202038 (3) (see all 22)
    25-hydroxycholesterol 67 2 15388640 (1), 12191470 (1)
    lipid 49.1 13 10570913 (2), 17666524 (1), 10570919 (1), 15085196 (1) (see all 10)
    lovastatin 48.5 2 12524230 (2)
    squalene 39.2 2 14596646 (1)
    fatty acid 35.9 2 9242699 (1)
    pravastatin 28.5 1 11683781 (1)
    simvastatin 21 2 16158080 (2)
    alanine 0 1 15728349 (1)



    SCAP for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SCAP gene: 
    NM_012235.2  

    Unigene Cluster for SCAP:

    SREBF chaperone
    Hs.531789  [show with all ESTs]
    Unigene Representative Sequence: NM_012235
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000320017 ENST00000265565(uc003crh.1 uc011baz.1 uc003crg.2)
    ENST00000416208 ENST00000465628 ENST00000468965 ENST00000494938 ENST00000428413
    ENST00000487942 ENST00000416847 ENST00000495603 ENST00000420588 ENST00000485967
    ENST00000448217 ENST00000441517 ENST00000545718
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate SCAP:
    hsa-miR-152 hsa-miR-582-5p hsa-miR-148b hsa-miR-148a
    SwitchGear 3'UTR luciferase reporter plasmidSCAP 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: SCAP (NM_012235)
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      QuantiTect SYBR Green Assays in human, mouse, rat SCAP
      QuantiFast Probe-based Assays in human, mouse, rat SCAP

    Additional mRNA sequence: 

    AK027402.1 AK074312.1 AK075528.1 AK291484.1 AK300311.1 BC020987.1 BC027207.2 D83782.2 

    23 DOTS entries:

    DT.447628  DT.100766081  DT.92445981  DT.100836596  DT.100698719  DT.100812388  DT.75122952  DT.120855174 
    DT.120855180  DT.120855234  DT.75139635  DT.92445979  DT.95113791  DT.95204122  DT.100028783  DT.92024713 
    DT.95204128  DT.100028784  DT.100728775  DT.120855224  DT.120855241  DT.91697305  DT.95239559 

    Selected AceView cDNA sequences (see all 293):

    CR623836 D83782 BQ005119 AI147243 CR625407 AI560986 AU124203 AK091005 
    BM726771 AA194044 BU501866 BM787881 BM752168 AA458974 BF594180 BU145324 
    BQ071901 BG395619 AI589527 BF969440 AW118179 BG577101 BQ220011 BQ068072 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SCAP (see all 12)    About this scheme

    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:                          -     -     -     -     -     -     -     -                                                                                       

    ExUns: 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
    SP1:                                                                                    
    SP2:                                                                                    
    SP3:                                                                                    
    SP4:                          -     -     -                                             
    SP5:                                                                                    


    ECgene alternative splicing isoforms for SCAP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SCAP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTTGCTCA
    SCAP Expression
    About this image

    SCAP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCAP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.531789
        Pathway & Disease-focused RT2 Profiler PCR Arrays including SCAP: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Unfolded Protein Response in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SCAP gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scap1 , 5 SREBF chaperone1, 5 87.7(n)1
    92.16(a)1
      9 (59.91 cM)5
    2356231  NM_001103162.21  NP_001096632.11 
     1103332885 
    chicken
    (Gallus gallus)
    Aves SCAP1 SREBF chaperone 74.67(n)
    78.68(a)
      420380  XM_001231539.3  XP_001231540.3 
    lizard
    (Anolis carolinensis)
    Reptilia SCAP6
    SREBF chaperone
    71(a)
    1 ↔ 1
    GL343991.1(32815-78093)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.168052 Xenopus laevis transcribed sequence with moderate similarity more 80.73(n)    AW641924.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5582921 sterol regulatory element-binding protein cleavage-activating more 67.94(n)
    72.46(a)
      558292  XM_005158250.1  XP_005158307.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SCAP1 , 3 protein-Golgi targeting3
    SREBP cleavage activating protein1
    32(a)3
    46.92(n)1
    37.39(a)1
      355291  NM_176097.31  NP_788277.11 
    worm
    (Caenorhabditis elegans)
    Secernentea scp-11 , 3 scp-11 29(a)3
    41.82(n)1
    30.59(a)1
      II(9333964-9338648)3
    1744791  NM_001026880.31  NP_001022051.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NCR16
    Vacuolar membrane protein that transits through th...
    10(a)
    1 → many
    XVI(544631-548143) YPL006W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCAP gene
    PTCH12  NPC12  NPC1L12  PTCH22  

    SCAP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SCAP (see all 1215)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1858064991,2
    --47455441(+) TCTGGC/TGGGCA 2 H R mis10--------
    rs2005617131,2
    --47455497(+) TCCCCA/GTAGTT 2 Y syn10--------
    rs1458942551,2
    C,F--47455524(+) ACACAG/CCCCTG 2 /G syn11Minor allele frequency- C:0.00NA 4544
    rs2014948161,2
    C--47455532(+) CTGGCC/TGCCAG 2 S G mis10--------
    rs178491331,2
    C--47455587(-) CAGGAC/TCTGGG 2 D syn10--------
    rs1510144401,2
    C,F--47455688(+) TAGAAC/TTTGAT 2 K syn12Minor allele frequency- T:0.01NA EU 5867
    rs356289081,2
    C,F,H--47455730(+) TCATCC/TAGGCC 2 L syn110Minor allele frequency- T:0.01NS NA WA EU 6953
    rs1512022561,2
    C--47455807(+) GCTGAC/GCCGGC 2 L V mis11Minor allele frequency- G:0.00NA 4542
    rs1453041151,2
    C--47455825(+) CAGTAC/TATCCC 2 I V mis11Minor allele frequency- T:0.00NA 4542
    rs1882237161,2
    C--47456056(+) AGGCCA/GCTTAC 1 -- int10--------

    HapMap Linkage Disequilibrium report for SCAP (47455184 - 47518616 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SCAP (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436375CNV Deletion17901297
    esv2725241CNV Deletion23290073
    esv2677458CNV Deletion23128226
    esv4049CNV Deletion18987735
    esv1471808CNV Insertion17803354
    esv998559CNV Insertion20482838
    nsv3805CNV Insertion18451855
    esv7925CNV Loss19470904
    nsv513046CNV Loss21212237
    esv23620CNV Loss19812545

    Human Gene Mutation Database (HGMD): SCAP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SCAP
    DNA2.0 Custom Variant and Variant Library Synthesis for SCAP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601510    OMIM disorders: --

    16 diseases for SCAP:    
    About MalaCards
    apocrine adenoma    syringocystadenoma papilliferum    smith-lemli-opitz syndrome    hypercholesterolemia
    atherosclerosis    coronary heart disease    coronary artery disease    myocardial infarction
    adenoma    prostate cancer    hypoxia    prostatitis
    alzheimer's disease    hepatitis    endotheliitis    malaria

    1 disease from the University of Copenhagen DISEASES database for SCAP:
    Smith-Lemli-Opitz syndrome

    SCAP for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for SCAP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypercholesterolemia 41.4 1 16466730 (1)
    dyslipidemia 30.9 1 20186155 (1)
    atherosclerosis 26.4 2 12436350 (1), 16466730 (1)
    necrosis 0 1 19533020 (1)
    tumors 0 3 19533020 (1), 11579213 (1)
    prostate cancer 0 2 15133039 (1)

    Genetic Association Database (GAD): SCAP
    Human Genome Epidemiology (HuGE) Navigator: SCAP (16 documents)

    Export disorders for SCAP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SCAP gene, integrated from 10 sources (see all 123):
    (articles sorted by number of sources associating them with SCAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure and chromosomal mapping of the human sterol regulatory element binding protein (SREBP) cleavage-activating protein (SCAP) gene. (PubMed id 10570913)1, 2, 3, 9 Nakajima T.... Emi M. (J. Hum. Genet. 1999)
    2. 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. (PubMed id 8724849)1, 2, 3 Nagase T.... Nomura N. (DNA Res. 1996)
    3. A common Ile796Val polymorphism of the human SREBP cleavage- activating protein (SCAP) gene. (PubMed id 10570919)1, 2, 9 Iwaki K.... Emi M. (J. Hum. Genet. 1999)
    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. (PubMed id 19116028)1, 4, 9 Fan Y.M....LehtimAoki T. (Thromb J 2008)
    5. The relationship of sterol regulatory element-binding protein cleavage-activation protein and apolipoprotein E gene polymorphisms with metabolic changes during weight reduction. (PubMed id 17570245)1, 4, 9 Nieminen T....LehtimAoki T. (Metab. Clin. Exp. 2007)
    6. 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. (PubMed id 19706601)1, 2, 9 Irisawa M.... Sato R. (J. Biol. Chem. 2009)
    7. Interactions among genetic variants from SREBP2 activating-related pathway on risk of coronary heart disease in Chinese Han population. (PubMed id 19740467)1, 4, 9 Liu X....Gu D. (Atherosclerosis 2010)
    8. Association 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? (PubMed id 18195716)1, 4 Le Hellard S....Steen V.M. (Mol. Psychiatry 2009)
    9. Integrative predictive model of coronary artery calcification in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (Circulation 2009)
    10. Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis. (PubMed id 19878569)1, 4 Chen S.N....Marian A.J. (BMC Med. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 22937 HGNC: 30634 AceView: SCAP Ensembl:ENSG00000114650 euGenes: HUgn22937
    ECgene: SCAP H-InvDB: SCAP

    (According to HUGE)
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    HUGE: KIAA0199

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SCAP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SCAP gene:
    Search GeneIP for patents involving SCAP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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