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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SCAP Gene

protein-coding   GIFtS: 59
GCID: GC03M047430

SREBF chaperone

 Explore 14 diseases affiliated with
SCAP via our new
 Human Malady Compendium 
Biological research products
for SCAP
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SREBF Chaperone1 2
KIAA01991 3
SREBP Cleavage-Activating Protein2 3
Sterol Regulatory Element Binding Protein Cleavage-Activating Protein2
Sterol Regulatory Element-Binding Protein Cleavage-Activating Protein2

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SCAP:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SCAP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: 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)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q12770

  • SCAP Protein expression data from MOPED and PaxDb:    About this image 
    SCAP Protein Expression
    REFSEQ proteins: NP_036367.2  
    ENSEMBL proteins: 
     ENSP00000324296   ENSP00000265565   ENSP00000409183   ENSP00000401819   ENSP00000408102  
     ENSP00000423419   ENSP00000389796   ENSP00000415195   ENSP00000416847   ENSP00000438956  
    Reactome Protein details: Q12770
    Human Recombinant Protein Products for SCAP: 
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    Uscn Proteins for SCAP

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005783endoplasmic reticulum NAS11726962
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005792microsome ----
    GO:0005794Golgi apparatus NAS11726962

    SCAP for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SCAP for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR026964 SCAP
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR000731 SSD
     IPR017986 WD40_repeat_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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19706601
    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 - Customizable classic, inducible, and humanized mouse model solutions for SCAP 

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    SwitchGear 3'UTR luciferase reporter plasmidSCAP 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)1.00
    SREBP signalling0.46
    2Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    3Transcription_Androgen Receptor nuclear signaling
    Transcription_Androgen Receptor nuclear signaling1.00
    Transcription Androgen Receptor nuclear signaling0.99
    4SREBP1A/1C/2 is retained in the endoplasmic reticulum by SCAP:cholesterol:INSIG
    SREBP1A/1C/2 is retained in the endoplasmic reticulum by SCAP:INSIG:oxysterol0.80
    SREBP1A/1C/2 is retained in the endoplasmic reticulum by SCAP:cholesterol:INSIG0.80
    5COPII (Coat Protein 2) Mediated Vesicle Transport
    SREBP1A/1C/2:SCAP Binds CopII Coat Complex0.50
    SREBP1A/1C/2:SCAP Transits to the Golgi0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SCAP
        Transcription Androgen Receptor nuclear signaling

    1 Downloadable PowerPoint Slide of QIAGEN 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

    5/7        Reactome Pathways for SCAP (see all 7)
        SREBP1A/1C/2 is retained in the endoplasmic reticulum by SCAP:cholesterol:INSIG
    Metabolism
    Metabolism of lipids and lipoproteins
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    SREBP1A/1C/2 is retained in the endoplasmic reticulum by SCAP:INSIG:oxysterol



    SCAP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SCAP

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

    5/14 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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    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 stimulus IEA--

    SCAP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SCAP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--
    10/11 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SCAP 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    Additional cDNA 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 

    24/293 AceView cDNA sequences (see all 293):

    AU124203 AI560986 BQ900914 AK091005 AA301053 BM149404 BG697947 BU501866 
    CR625407 BQ005119 BQ220011 D83782 BU633186 BM752168 CB850691 BQ068072 
    BM787881 BG577101 AA968905 BU172323 BM726771 BM700642 BU848632 BX401167 

    GeneLoc Exon Structure

    5/12 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SCAP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTTTGCTCA
    SCAP Expression
    About this image
    See SCAP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SCAP

    SOURCE GeneReport for Unigene cluster: Hs.531789
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SCAP gene from 7/20 species (see all 20)    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_001001144.21  NP_001001144.21 
     1103332885 
    chicken
    (Gallus gallus)
    Aves SCAP1 SREBF chaperone 74.11(n)
    78(a)
      420380  XM_001231539.2  XP_001231540.2 
    lizard
    (Anolis carolinensis)
    Reptilia SCAP6
    --
    72(a)
    1 ↔ 1
    GL343991.1(32815-77998)
    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 68.05(n)
    72.44(a)
      558292  XM_681493.3  XP_686585.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta SCAP1 , 3 protein-Golgi targeting3
    SREBP cleavage activating protein1
    32(a)3
    46.95(n)1
    37.03(a)1
      355291  NM_176097.21  NP_788277.11 
    worm
    (Caenorhabditis elegans)
    Secernentea scp-11 , 3 Protein SCP-11 29(a)3
    41.88(n)1
    30.1(a)1
      II(9333964-9338648)3
    1744791  NM_001026880.21  NP_001022051.11 


    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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/960 NCBI SNPs in SCAP are shown (see all 960    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2002350921,2
    --47454706(+) CACTA-/CATCATCA 2 -- ut31 ds50010--------
    rs1409168131,2
    --47454928(+) GTGGCC/TCGTGT 2 -- ut31 ds50010--------
    rs1930971631,2
    --47455002(+) CTTTTA/GTGGAT 2 -- ds5001 int10--------
    rs1443483941,2
    --47455029(+) ACTGCC/TACACT 2 -- int1 ds50010--------
    rs48588681,2
    C,F,A,H--47455086(+) TCCCCG/ATGCCA 2 -- ds5001 int122Minor allele frequency- A:0.45NS EA NA CSA WA 2417
    rs1851114111,2
    --47455153(+) CAAACA/CATTCC 2 -- int1 ds50010--------
    rs1469739421,2
    C--47455216(+) AAAAA-/GTTGTTTA 2 -- ut31 int10--------
    rs1477935031,2
    --47455246(+) GCAGCA/GGCTGG 2 -- int1 ut310--------
    rs1488311451,2
    --47455260(+) ATACTC/TGGCTC 2 -- int1 ut310--------
    rs454533981,2
    C,F--47455261(+) TACTCG/AGCTCT 2 -- int1 ut311Minor allele frequency- A:0.03EU 589

    HapMap Linkage Disequilibrium report for SCAP (47455184 - 47518616 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for SCAP
         9 CNVs: 91300 36151 43505 36150 79759 63462 22510 62055 23686
         1 Indel: 79760
    Human Gene Mutation Database (HGMD): SCAP

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    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.)
    About This Section

    SCAP for disorders           About GeneDecksing

    OMIM gene information: 601510    OMIM disorders: --

    14 diseases for SCAP:    About MalaCards
    smith-lemli-opitz syndrome    syringocystadenoma papilliferum    cholesterol    apocrine adenoma
    coronary heart disease    hypercholesterolemia    myocardial infarction    nevus
    prostate cancer    atherosclerosis    adenoma    prostatitis
    hypoxia    hepatitis

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

    6 Novoseek 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)

    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)
    About This Section

    PubMed articles for SCAP gene, integrated from 9 sources (see all 117):
    (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. (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. (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. (1999)
    4. The sterol-sensing endoplasmic reticulum (ER) membran e protein TRC8 hampers ER to Golgi transport of sterol regulatory element-bindi ng protein-2 (SREBP-2)/SREBP cleavage-activated protein and reduces SREBP-2 cle avage. (PubMed id 19706601)1, 2, 9 Irisawa M....Sato R. (2009)
    5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    9. Sterol resistance in CHO cells traced to point mutation in SREBP cleavage-activating protein. (PubMed id 8898195)1, 3 Hua X....Brown M.S. (1996)
    10. Identification of complexes between the COOH-terminal domains of sterol regulatory element-binding proteins (SREBPs) and SREBP cleavage-activating protein. (PubMed id 9242699)1, 9 Sakai J....Goldstein J.L. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 22937 HGNC: 30634 AceView: SCAP Ensembl:ENSG00000114650 euGenes: HUgn22937
    ECgene: SCAP H-InvDB: SCAP

    (According to HUGE)
    About This Section
    HUGE: KIAA0199

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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