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

SREBF1 Gene

protein-coding   GIFtS: 66
GCID: GC17M017714

sterol regulatory element binding transcription factor 1

 Explore 57 diseases affiliated with
SREBF1 via our new
 Human Malady Compendium 
Biological research products
for SREBF1
    

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

Aliases
Sterol Regulatory Element Binding Transcription Factor 11 2     SREBP-12 3
SREBP11 2 3     Sterol Regulatory Element-Binding Protein 12
BHLHd11     BHLHD13
SREBP-1c1 2     Sterol Regulatory Element-Binding Transcription Factor 13
Class D Basic Helix-Loop-Helix Protein 12 3     

External Ids:    HGNC: 112891   Entrez Gene: 67202   Ensembl: ENSG000000723107   OMIM: 1847565   UniProtKB: P369563   

Export aliases for SREBF1 gene to outside databases

Previous GC identifers: GC17M018030 GC17M019087 GC17M017657 GC17M017915 GC17M017655 GC17M017466


(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 SREBF1:
This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer
flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is
synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the
mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the
cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The
protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is
located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms
have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SRBP1_HUMAN, P36956
Function: Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as
well as the fatty acid and to a lesser degree the cholesterol synthesis pathway (By similarity). Binds to the sterol
regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3'). Has dual sequence specificity binding to both an E-box motif
(5'-ATCACGTGA-3') and to SRE-1 (5'-ATCACCCCAC-3')

Gene Wiki entry for SREBF1


(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_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SREBF1 gene promoter:
         PPAR-gamma1   STAT3   PPAR-gamma2   STAT5A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SREBF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SREBF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SREBF1


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

SREBF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SREBF1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M017714:  view genomic region     (about GC identifiers)

Start:
17,713,713 bp from pter      End:
17,740,325 bp from pter
Size:
26,613 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: SRBP1_HUMAN, P36956 (See protein sequence)
Recommended Name: Sterol regulatory element-binding protein 1  
Size: 1147 amino acids; 121675 Da
Subunit: Forms a tight complex with SCAP in the ER membrane. Efficient DNA binding of the soluble transcription factor
fragment requires dimerization with another bHLH protein. Interacts with LMNA
Subcellular location: 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
Subcellular location: Processed sterol regulatory element-binding protein 1: Nucleus
Sequence caution: Sequence=AAB28522.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAD92846.1; Type=Miscellaneous discrepancy; Note=Intron retention;
1 PDB 3D structure from and Proteopedia for SREBF1:
1AM9 (3D)    
Secondary accessions: D3DXC4 Q16062 Q59F52 Q6P4R7 Q6PFW7 Q6PJ36 Q8TAK9
Alternative splicing: 4 isoforms:  P36956-1   P36956-2   P36956-3   P36956-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SREBF1: NX_P36956

Post-translational modifications:

  • At low cholesterol the SCAP/SREBP complex is recruited into COPII vesicles for export from the ER. In the Golgi complex
  • SREBPs are cleaved sequentially by site-1 and site-2 protease. The first cleavage by site-1 protease occurs within the
    luminal loop, the second cleavage by site-2 protease occurs within the first transmembrane domain and releases the
    transcription factor from the Golgi membrane. Apoptosis triggers cleavage by the cysteine proteases caspase-3 and
    caspase-71
  • Phosphorylated by AMPK, leading to suppress protein processing and nuclear translocation, and repress target gene
  • expression. Phosphorylation at Ser-402 by SIK1 represses activity possibly by inhibiting DNA-binding (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P36956

  • SREBF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005291.1  NP_004167.3  

    ENSEMBL proteins: 
     ENSP00000466643   ENSP00000465747   ENSP00000379106   ENSP00000379100   ENSP00000348069  
     ENSP00000261646   ENSP00000466453   ENSP00000464923   ENSP00000403367   ENSP00000462343  
     ENSP00000411516   ENSP00000463474   ENSP00000345822   ENSP00000413389  
    Reactome Protein details: P36956
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    Uscn Proteins for SREBF1

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005634nucleus IDA15358760
    GO:0005635nuclear envelope TAS8156598
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IDA12202038


    SREBF1 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

    SREBF1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR011598 HLH_dom

    Graphical View of Domain Structure for InterPro Entry P36956

    ProtoNet protein and cluster: P36956

    1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: SRBP1_HUMAN, P36956
    Similarity: Belongs to the SREBP family
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


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

    Function Summary:

         UniProtKB/Swiss-Prot: SRBP1_HUMAN, P36956
    Function: Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as
    well as the fatty acid and to a lesser degree the cholesterol synthesis pathway (By similarity). Binds to the sterol
    regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3'). Has dual sequence specificity binding to both an E-box motif
    (5'-ATCACGTGA-3') and to SRE-1 (5'-ATCACCCCAC-3')

         Genatlas biochemistry entry for SREBF1:
    sterol regulatory element binding protein 1,controlling cholesterol homeostasis

    10/642 SABiosciences Target genes for SREBF1 (see all 642):
    AADAT ABCA8 ABCF1 ACOX2 ACSS1 ACTR1A ADAMTS10 ADAMTS20 ADD1 ADH5

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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ISS--
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA16407292
    GO:0003704specific RNA polymerase II transcription factor activity ----
    GO:0005515protein binding IPI--


    SREBF1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SREBF1:
     Decreased Salmonella enterica  

    Animal Models:
         Mouse knock-outs for SREBF1: Srebf1tm2Jdh Srebf1tm1Jdh
         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Srebf1):
     homeostasis/metabolism  liver/biliary system  mortality/aging 

    SREBF1 for phenotypes           About GeneDecksing


    (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 - 5/20 super-pathways (see all 20About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Expression of Mevalonate Kinase (MVK)
    Expression of Mevalonate Kinase (MVK)1.00
    Expression of Geranylgeranyl Pyrophosphate Synthase (GGPS1)0.75
    Expression of 7-Dehydrocholesterol Reductase (DHCR7)0.75
    Expression of Phosphomevalonate Kinase (PMVK)0.75
    Expression of Lanosterol Demethylase (CYP51A1)0.75
    Expression of Farnesyldiphosphate Farnesyltransferase (FDFT1, Squalene Synthase)0.75
    Expression of Isopentenyl-diphosphate Delta-isomerase 1 (IDI1)0.75
    Expression of Fatty Acid Synthase (FASN)0.62
    2Expression of Lathosterol Oxidase (SC5D, SC5DL)
    Expression of Lathosterol Oxidase (SC5D, SC5DL)1.00
    Expression of Hydroxymethylglutaryl coenzyme A synthase (HMGCS1)0.71
    Expression of Farnesyl Diphosphate Synthase (FDPS)0.71
    Expression of Squalene Monooxygenase (SQLE)0.71
    Expression of TM7SF20.71
    Expression of Glycerol-3-phosphate Acyltransferase (GPAM, GPAT)0.57
    Expression of 3-Hydroxy-3-methylglutaryl-coenzyme A Reductase (HMGCR)0.71
    3Expression of ELOVL6
    Expression of ELOVL61.00
    SREBP1A/1C/2 Transits to the Nucleus0.50
    Expression of Lanosterol Synthase (LSS)0.50
    Expression of Diphosphomevalonate Decarboxylase (MVD)0.50
    4Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)1.00
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    PPARA Activates Gene Expression0.74
    5SREBP1A/1C/2 is retained in the endoplasmic reticulum by SCAP:cholesterol:INSIG
    SREBP1A/1C/2 is retained in the endoplasmic reticulum by SCAP:cholesterol:INSIG1.00
    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

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SREBF1
        SREBP Proteolysis

    1 Cell Signaling Technology (CST) Pathway for SREBF1
        Glucose / Energy Metabolism

    5/6 BioSystems Pathways for SREBF1 (see all 6
        SREBP signalling
    AMPK signaling
    Adipogenesis
    Id Signaling Pathway
    mTOR signaling pathway

    5/36        Reactome Pathways for SREBF1 (see all 36)
        Expression of Acetyl CoA Carboxylase 2 (ACACB, ACC2)
    Expression of Fatty Acid Synthase (FASN)
    Expression of Squalene Monooxygenase (SQLE)
    Fatty acid, triacylglycerol, and ketone body metabolism
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)

    1 PharmGKB Pathway for SREBF1
        Metformin Pathway, Pharmacodynamic

    1         Kegg Pathway  (Kegg details for SREBF1):
        Insulin signaling pathway


    SREBF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SREBF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/79 Interacting proteins for SREBF1 (P369561, 2, 3 ENSP000003480694) via UniProtKB, MINT, STRING, and/or I2D (see all 79)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2863379 MINT-2863360 I2D: score=3 STRING: ENSP00000244769
    MED15Q96RN51, 3, ENSP000002632054EBI-948328,EBI-394506 I2D: score=1 STRING: ENSP00000263205
    SIRT1Q96EB61, 3, ENSP000002120154EBI-948338,EBI-1802965 I2D: score=1 STRING: ENSP00000212015
    MAPK1P284823, ENSP000002158324I2D: score=4 STRING: ENSP00000215832
    MAPK3P273613, ENSP000002630254I2D: score=4 STRING: ENSP00000263025
    About this table

    Gene Ontology (GO): 5/32 biological process terms (GO ID links to tree view) (see all 32):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0003062regulation of heart rate by chemical signal IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS8156598


    SREBF1 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

    SREBF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SREBF1
    10/43 Novoseek chemical compound relationships for SREBF1 gene (see all 43)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterol 95.6 197 9478955 (4), 18192539 (3), 11590226 (3), 8060328 (2) (see all 99)
    fatty acid 79.9 66 18774944 (2), 12213216 (2), 20017192 (2), 11082286 (2) (see all 53)
    25-hydroxycholesterol 78 7 17624300 (1), 14704295 (1), 18854425 (1), 9478955 (1) (see all 5)
    cholesterol 72.9 85 18071061 (5), 9478955 (3), 15123650 (2), 18635549 (2) (see all 52)
    3-hydroxy-3-methylglutaryl-coa 72.4 4 7862668 (1), 19389950 (1), 7759101 (1)
    n-acetylleucylleucylnorleucinal 71.2 7 8060328 (1), 17376415 (1)
    lipid 71 62 19048273 (6), 17331464 (2), 20071336 (2), 18239056 (2) (see all 42)
    acetyl-coa 69 6 12213084 (2), 17449569 (1), 19238155 (1), 17381980 (1) (see all 5)
    squalene 62.3 2 10946023 (1)
    farnesyl diphosphate 58.1 6 8798690 (3), 17172644 (1)

    Search CenterWatch for drugs/clinical trials and news about SREBF1 / SRBP1 

    (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,
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    About This Section

    REFSEQ mRNAs for SREBF1 gene (2 alternative transcripts): 
    NM_001005291.2  NM_004176.4  

    Unigene Cluster for SREBF1:

    Sterol regulatory element binding transcription factor 1
    Hs.592123  [show with all ESTs]
    Unigene Representative Sequence: NM_001005291
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000485080 ENST00000578469(uc002gro.4) ENST00000395756(uc002grp.2)
    ENST00000395757 ENST00000395751(uc002grq.2 uc002grr.2) ENST00000355815(uc002grs.2 uc002grt.2 uc010cpp.1)
    ENST00000261646(uc002gru.2) ENST00000486311 ENST00000478616 ENST00000447641
    ENST00000581707 ENST00000490796 ENST00000584760 ENST00000471445 ENST00000469356
    ENST00000580540 ENST00000583080 ENST00000487401

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    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate SREBF1 (see all 26):
    hsa-miR-4317 hsa-miR-2052 hsa-miR-579 hsa-miR-142-5p hsa-miR-19b-2* hsa-miR-4263 hsa-miR-513c hsa-miR-132
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB209609.1 AB373958.1 AB373959.1 AK091131.1 AK095325.1 AK128320.1 AK293795.1 AK294800.1 
    AK297113.1 BC023621.2 BC026962.1 BC057388.1 BC063281.1 S66168.1 U00968.1 

    24/32 DOTS entries (see all 32):

    DT.100777285  DT.91770572  DT.101984802  DT.100777283  DT.95250532  DT.101984801  DT.91661408  DT.120990317 
    DT.75146072  DT.91867144  DT.120990380  DT.75143726  DT.100751743  DT.97851985  DT.95196941  DT.95250530 
    DT.99996130  DT.120990250  DT.120990440  DT.40105827  DT.95250517  DT.120990247  DT.120990298  DT.120990308 

    24/351 AceView cDNA sequences (see all 351):

    BC057388 BM719165 CR616334 BU726792 BM830205 BG164517 BM681283 AI918878 
    BU078628 BQ895949 AI081140 BM744407 BM705822 BM743932 AU132043 BM751842 
    AK091131 CD723106 BM129014 BM756848 CD672007 BE304782 CA416842 BM773234 

    GeneLoc Exon Structure

    5/21 Alternative Splicing Database (ASD) splice patterns (SP) for SREBF1 (see all 21)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11 ^
    SP1:                                                                                                                    -                                       
    SP2:                                                                                                                    -                                       
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   

    ExUns: 12a · 12b ^ 13a · 13b · 13c · 13d ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c · 17d ^ 18a · 18b · 18c · 18d ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23
    SP1:                                                                                                                                                      
    SP2:  -     -                                                                                                                                             
    SP3:                                                                                                                    -                 -     -         
    SP4:                                                                                                                    -                                 
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for SREBF1

    (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

    SREBF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGGTGCTGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SREBF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SREBF1

    SOURCE GeneReport for Unigene cluster: Hs.592123

    UniProtKB/Swiss-Prot: SRBP1_HUMAN, P36956
    Tissue specificity: Expressed in a wide variety of tissues, most abundant in liver and adrenal gland. In fetal tissues
    lung and liver shows highest expression. Isoform SREBP-1C predominates in liver, adrenal gland and ovary, whereas
    isoform SREBP-1A predominates in hepatoma cell lines. Isoform SREBP-1A and isoform SREBP-1C are found in kidney,
    brain, white fat, and muscle

        SABiosciences Expression via Pathway-Focused PCR Arrays including SREBF1 (see all 11): 
              Insulin Signaling Pathway in human mouse rat
              Prostate Cancer in human mouse rat
              Hepatotoxicity in human mouse rat
              Diabetes in human mouse rat
              Adipogenesis 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 SREBF1 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SREBF11 sterol regulatory element binding transcription factor more 69.28(n)
    65.66(a)
      373915  NM_204126.1  NP_989457.1 
    lizard
    (Anolis carolinensis)
    Reptilia SREBF16
    --
    64(a)
    1 ↔ 1
    GL343500.1(2507-24177)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.120572 Xenopus laevis transcribed sequence with weak similarity more 77.37(n)    CB207279.1 
    zebrafish
    (Danio rerio)
    Actinopterygii srebf11 sterol regulatory element binding transcription factor more 62.56(n)
    61.75(a)
      793274  NM_001105129.1  NP_001098599.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta HLH1061 , 3 transcription factor3
    Helix loop helix protein 1061
    34(a)3
    47.19(n)1
    36.32(a)1
      76C53
    401551  NM_079442.21  NP_524166.21 
    worm
    (Caenorhabditis elegans)
    Secernentea sbp-11 Protein SBP-1 38.15(n)
    27.08(a)
      176574  NM_067071.4  NP_499472.1 


    ENSEMBL Gene Tree for SREBF1 (if available)
    TreeFam Gene Tree for SREBF1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SREBF1 gene
    SREBF22  
    5 SIMAP similar genes for SREBF1 using alignment to 10 protein entries:     SRBP1_HUMAN (see all proteins):
    SREBP-1a (delta)    SREBP-1c (delta)    DKFZp434N1610    MAX    SREBF2

    SREBF1 for paralogs           About GeneDecksing



    (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

    10/509 NCBI SNPs in SREBF1 are shown (see all 509    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs17379621,2
    C--17466837(-) TACAGT/GCTTCA 2 -- int13Minor allele frequency- G:0.01MN NA 188
    rs133067411,2
    C,F,--17467268(-) TCCCTG/TCAAGA 2 -- ut311Minor allele frequency- T:0.06EA 120
    rs739810751,2
    C,--17467312(+) CCTGGA/CAGTCA 2 -- ut312Minor allele frequency- C:0.10WA 120
    rs599951251,2
    C,--17467623(+) TGAAGA/GCACAA 2 -- ut312Minor allele frequency- G:0.09WA 120
    rs739810761,2
    C,F,--17467661(+) TAATTC/ATCTGT 2 -- ut313Minor allele frequency- A:0.10WA 122
    rs80647061,2
    C,F,H,--17467915(+) GCAGAG/TCAAGG 2 -- ut319Minor allele frequency- T:0.12NS NA CSA WA 916
    rs739810781,2
    C,--17467927(+) GGGGGG/ACCCCC 2 -- ut312Minor allele frequency- A:0.07WA 120
    rs286578891,2
    C--17468590(+) ACAGAC/ATGAGT 2 -- int12Minor allele frequency- A:0.00NA 4
    rs749111751,2
    C,--17468925(+) CCCCTC/TACCTC 2 -- int10--------
    rs350142241,2
    C,F--17469209(-) CTTCCG/CCCCTT 4 /P /A mis13Minor allele frequency- C:0.08NA 24

    HapMap Linkage Disequilibrium report for SREBF1 (17713713 - 17740325 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SREBF1
         1 CNV: 10512
         1 Indel: 58785
         1 Inversion: 0495
    Human Gene Mutation Database (HGMD): SREBF1

    SABiosciences Cancer Mutation PCR Assays
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    (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

    SREBF1 for disorders           About GeneDecksing

    OMIM gene information: 184756    OMIM disorders: --

    20/57 diseases for SREBF1 (see all 57):    About MalaCards
    smith-magenis syndrome    amyotrophic lateral sclerosis (als)    amyotrophic lateral sclerosis    congenital generalized lipodystrophy
    pre-eclampsia    traumatic brain injury    type 2 diabetes mellitus    lateral sclerosis
    brain injury    insulin resistance    lipodystrophy    metabolic disorders
    fatty liver disease    coronary heart disease    diabetes mellitus    morbid obesity
    gestational diabetes    hyperlipidemia    hypercholesterolemia    hyperinsulinism

    6 diseases from the University of Copenhagen DISEASES database for SREBF1:
    Fatty liver disease     Diabetes mellitus     Lipodystrophy     Hyperglycemia
    Hyperinsulinism     Atherosclerosis

    10/17 Novoseek disease relationships for SREBF1 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipodystrophy 66.9 2 20074077 (1)
    fatty liver 62.6 11 18071061 (2), 19032584 (2), 18627005 (1), 17484888 (1) (see all 5)
    insulin resistance 50.3 5 15102555 (1), 16429400 (1), 18192539 (1), 19223519 (1) (see all 5)
    hyperinsulinemia 39.3 7 11916923 (2), 15187085 (1), 14514640 (1), 16831124 (1)
    obesity 37.4 7 15277400 (3), 16005884 (1), 11916923 (1), 19292868 (1) (see all 5)
    hyperlipidemia 36.3 2 17666524 (2)
    hypercholesterolemia 34.3 3 17666524 (2), 16005884 (1)
    dyslipidemia 33.6 2 15277400 (2)
    atherosclerosis 30.4 1 19292868 (1)
    carcinoma 4.55 1 12213216 (1)

    Genetic Association Database (GAD): SREBF1
    Human Genome Epidemiology (HuGE) Navigator: SREBF1 (39 documents)

    Export disorders for SREBF1 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 SREBF1 gene, integrated from 9 sources (see all 426):
    (articles sorted by number of sources associating them with SREBF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13. (PubMed id 7759101)1, 2, 3, 9 Hua X....Hobbs H.H. (1995)
    2. SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene. (PubMed id 8402897)1, 2, 3, 9 Yokoyama C.... Brown M.S. (1993)
    3. Genetic variant of the SREBF-1 gene is significantly related to cholesterol synthesis in man. (PubMed id 16005884)1, 4, 9 Laaksonen R....Lehtimaki T. (2006)
    4. SREBF-1 gene polymorphisms are associated with obesity and type 2 diabetes in French obese and diabetic cohorts. (PubMed id 15277400)1, 4, 9 Eberle D....Foufelle F. (2004)
    5. Regulated cleavage of sterol regulatory element binding proteins requires sequences on both sides of the endoplasmic reticulum membrane. (PubMed id 8626610)1, 2, 9 Hua X.... Goldstein J.L. (1996)
    6. Determinants of variable response to simvastatin treatment: the role of common variants of SCAP, SREBF-1a and SREBF-2 genes. (PubMed id 16158080)1, 4 Fiegenbaum M....Hutz M.H. (2005)
    7. Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes. (PubMed id 14988272)1, 4 Laudes M....O'Rahilly S. (2004)
    8. SREBP-1a polymorphism influences the risk of Alzheimer's disease in carriers of the ApoE4 allele. (PubMed id 15286454)1, 4 Spell C....Heun R. (2004)
    9. Interaction between SREBP-1a and APOB polymorphisms influences total and low-density lipoprotein cholesterol levels in patients with coronary artery disease. (PubMed id 12752570)1, 4 Rios D.L....Hutz M.H. (2003)
    10. Effects of SREBF-1a and SCAP polymorphisms on plasma levels of lipids, severity, progression and regression of coronary atherosclerosis and response to therapy with fluvastatin. (PubMed id 12436350)1, 4 Salek L....Marian A.J. (2002)

    (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: 6720 HGNC: 11289 AceView: SREBF1 Ensembl:ENSG00000072310 euGenes: HUgn6720
    ECgene: SREBF1 Kegg: 6720 H-InvDB: SREBF1

    (According to HUGE)
    About This Section
      --

    (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 SREBF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SREBF1 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Sterol_regulatory_element_binding_protein

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SREBF1 gene:
    Search GeneIP for patents involving SREBF1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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