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SREBF1 Gene

protein-coding   GIFtS: 68
GCID: GC17M017714

Sterol Regulatory Element Binding Transcription Factor 1

  See SREBF1-related disease
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
Sterol Regulatory Element Binding Transcription Factor 11 2     SREBP-1c2
Class D Basic Helix-Loop-Helix Protein 12 3     Sterol Regulatory Element-Binding Protein 12
SREBP-12 3     BHLHD13
SREBP12 3     Sterol Regulatory Element-Binding Transcription Factor 13
bHLHd12 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SREBF1 Gene:
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)

GeneCards Summary for SREBF1 Gene:
SREBF1 (sterol regulatory element binding transcription factor 1) is a protein-coding gene. Diseases associated with SREBF1 include insulin resistance. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SREBF2.

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 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 at NCBI GenBank:
NC_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   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 Chromatin IP Primers for SREBF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: B0I4X3 B0I4X4 D3DXC4 Q16062 Q59F52 Q6P4R7 Q6PFW7 Q6PJ36 Q8TAK9
Alternative splicing: 6 isoforms:  P36956-1   P36956-2   P36956-3   P36956-4   P36956-5   P36956-6   (The absence of Golgi proteolytic processing requirement makes this isoform constitutively active in transactivation of lipogenic gene promoters)

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

Explore proteomics data for SREBF1 at MOPED

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
  • Ubiquitination2 at Lys347, Lys379, Lys587, Lys675, Lys934, Lys1070
  • Modification sites at PhosphoSitePlus

  • See SREBF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000466643   ENSP00000465747   ENSP00000474121   ENSP00000379106   ENSP00000379100  
     ENSP00000348069   ENSP00000261646   ENSP00000466453   ENSP00000464923   ENSP00000411516  
     ENSP00000463474   ENSP00000345822   ENSP00000413389  
    Reactome Protein details: P36956

    SREBF1 Human Recombinant Protein Products:

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    Novus Biologicals SREBF1 Proteins
    Novus Biologicals SREBF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SREBF1

     
    Search eBioscience for Proteins for SREBF1 

     
    antibodies-online proteins for SREBF1 (3 products) 

     
    antibodies-online peptides for SREBF1

    SREBF1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SREBF1
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    Search for Antibodies for SREBF1 at Abcam
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    ThermoFisher Antibody for SREBF1
    LSBio Antibodies in human, mouse, rat for SREBF1
    antibodies-online antibodies for SREBF1 (94 products) 

    SREBF1 Assay Products:

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    GenScript Custom Assay Services for SREBF1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SREBF1
    Cloud-Clone Corp. CLIAs for SREBF1
    Search eBioscience for ELISAs for SREBF1 
    antibodies-online kits for SREBF1 (14 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry P36956

    ProtoNet protein and cluster: P36956

    1 Blocks protein domain: 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


    Find genes that share domains with SREBF1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (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:0005515protein binding IPI14701856
    GO:0019901protein kinase binding IEA--
         
    Find genes that share ontologies with SREBF1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SREBF1:
     Decreased Salmonella enterica  

         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Srebf1):
     homeostasis/metabolism  liver/biliary system  mortality/aging 

    Find genes that share phenotypes with SREBF1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SREBF1: Srebf1tm2Jdh Srebf1tm1Jdh

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SREBF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SREBF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SREBF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SREBF1

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for SREBF1 (see all 622):
    AADAT,  ABCA8,  ABCF1,  ACOX2,  ACSS1,  ACTR1A,  ADAMTS10,  ADAMTS20,  ADD1,  ADH5

    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  ATCACCCCAT 

    miRNA
    Products:
        
    miRTarBase miRNAs that target SREBF1:
    hsa-mir-185-5p (MIRT045315), hsa-mir-378a-3p (MIRT043859), hsa-mir-484 (MIRT041670), hsa-mir-744-5p (MIRT037474), hsa-mir-25-3p (MIRT050226), hsa-mir-93-3p (MIRT038739), hsa-mir-10a-5p (MIRT047574), hsa-mir-335-5p (MIRT018325), hsa-let-7e-5p (MIRT051418)

    Block miRNA regulation of human, mouse, rat SREBF1 using miScript Target Protectors
    Selected qRT-PCR 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
    SwitchGear 3'UTR luciferase reporter plasmidSREBF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SREBF1
    Predesigned siRNA for gene silencing in human, mouse, rat SREBF1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for SREBF1

    Clone
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    OriGene clones in human, mouse for SREBF1 (see all 12)
    OriGene ORF clones in mouse, rat for SREBF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SREBF1 (NM_001005291)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SREBF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SREBF1
    Addgene plasmids for SREBF1 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SREBF1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SREBF1


    (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
    SRBP1_HUMAN, P36956: 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
    SRBP1_HUMAN, P36956: Processed sterol regulatory element-binding protein 1: Nucleus
    SRBP1_HUMAN, P36956: Isoform SREBP-1aDelta: Nucleus
    SRBP1_HUMAN, P36956: Isoform SREBP-1cDelta: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    nucleus5
    cytosol4
    peroxisome3
    extracellular2
    mitochondrion2
    plasma membrane2

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005634nucleus IDA12202038
    GO:0005635nuclear envelope TAS8156598
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ISS--

    Find genes that share ontologies with SREBF1           About GenesLikeMe


    (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 SREBF1 About   (see all 18)  
    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
    Activation of Gene Expression by SREBP (SREBF)0.75
    2Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    Transcriptional Regulation of White Adipocyte Differentiation0.38
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Circadian Repression of Expression by REV-ERBA
    RORA Activates Circadian Expression0.88
    5Circadian Clock
    Circadian Clock0.66


    Find genes that share SuperPaths with SREBF1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

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

    Selected BioSystems Pathways for SREBF1 (see all 8)
        Cholesterol biosynthesis
    Adipogenesis
    AMPK signaling
    SREBP signalling
    SREBF and miR33 in cholesterol and lipid homeostasis

    5 Reactome Pathways for SREBF1
        Transcriptional regulation of white adipocyte differentiation
    PPARA activates gene expression
    Regulation of cholesterol biosynthesis by SREBP (SREBF)
    Activation of gene expression by SREBF (SREBP)
    RORA activates circadian gene expression

    1 PharmGKB Pathway for SREBF1
        Metformin Pathway, Pharmacodynamic

    2 Kegg Pathways  (Kegg details for SREBF1):
        Insulin signaling pathway
    Non-alcoholic fatty liver disease (NAFLD)

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for SREBF1

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

    Selected Interacting proteins for SREBF1 (P369561, 2, 3 ENSP000003480694) via UniProtKB, MINT, STRING, and/or I2D (see all 106)
    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): Selected biological process terms (see all 34):    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-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS8156598

    Find genes that share ontologies with SREBF1           About GenesLikeMe



    (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 SREBF1 (SRBP1)

    Selected Novoseek inferred 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)

    1 PharmGKB related drug/compound annotation for SREBF1 gene    About this table
    Drug/compound PharmGKB Annotation
    fluvastatinCA  



    Find genes that share compounds with SREBF1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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
    miRNA
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    Selected qRT-PCR 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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    GenScript: all cDNA clones in your preferred vector (see all 2): SREBF1 (NM_001005291)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SREBF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SREBF1
    Addgene plasmids for SREBF1 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SREBF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SREBF1
      QuantiTect SYBR Green Assays in human, mouse, rat SREBF1
      QuantiFast Probe-based Assays in human, mouse, rat SREBF1

    Additional mRNA 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 

    Selected DOTS entries (see all 32):

    DT.100777285  DT.91770572  DT.101984802  DT.100777283  DT.95250532  DT.101984801  DT.91661408  DT.120990317 
    DT.91867144  DT.75146072  DT.120990380  DT.75143726  DT.97851985  DT.100751743  DT.95196941  DT.95250530 
    DT.120990250  DT.120990440  DT.40105827  DT.95250517  DT.120990247  DT.120990298  DT.120990308  DT.120990389 

    Selected AceView cDNA sequences (see all 351):

    AI611829 CA416842 BC026962 BM055286 BF724849 CA488807 AU132043 NM_004176 
    BM830205 BM069894 BQ895949 BQ638429 BG164517 BM993384 BF726660 BF115611 
    BU739589 BM756848 AI081140 CD723066 AU121804 BM770756 BM744410 BQ421567 

    GeneLoc Exon Structure

    Selected 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™, 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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    SREBF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGGTGCTGA
    SREBF1 Expression
    About this image


    SREBF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Eye (Sensory Organs)
             Lens
    SREBF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SREBF1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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

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    This gene was present in the common ancestor of animals.

    Orthologs for SREBF1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Srebf11 , 5 sterol regulatory element binding transcription factor more1, 5 80.95(n)1
    81.18(a)1
      11 (37.81 cM)5
    207871  NM_011480.31  NP_035610.11 
     601990895 
    chicken
    (Gallus gallus)
    Aves SREBF11 sterol regulatory element binding transcription factor more 69.49(n)
    65.81(a)
      373915  NM_204126.1  NP_989457.1 
    lizard
    (Anolis carolinensis)
    Reptilia SREBF16
    sterol regulatory element binding transcription fa...
    64(a)
    1 ↔ 1
    GL343500.1(1814-24177)
    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 62.43(n)
    61.34(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
    48.43(n)1
    37.45(a)1
      76C53
    401551  NM_001275135.11  NP_001262064.11 
    worm
    (Caenorhabditis elegans)
    Secernentea sbp-16
    Protein SBP-1 (sbp-1) mRNA, complete cds
    21(a)
    1 → many
    III(11428341-11442566) WBGene00004735


    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)
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    Paralogs for SREBF1 gene
    SREBF22  
    3 SIMAP similar genes for SREBF1 using alignment to 9 protein entries:     SRBP1_HUMAN (see all proteins):
    DKFZp434N1610    MAX    SREBF2

    Find genes that share paralogs with SREBF1           About GenesLikeMe



    (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 SREBF1 (see all 680)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs75017881,2
    C,F,A,H--17472428(+) CCCCAG/TCCCCC 2 -- int12Minor allele frequency- T:0.50WA 4
    rs1853464031,2
    --17485526(+) TATGTA/CTACAC 2 -- int10--------
    rs1448427921,2
    C--17485528(+) TGTAT-/ACACACA 2 -- int10--------
    rs1897980081,2
    --17485544(+) CACACA/TCTCAC 2 -- int10--------
    rs1386254731,2
    --17702216(+) GCCGCC/TCTAGC 2 -- int10--------
    rs1488982911,2
    --17702251(+) AATGGC/TAAACG 2 -- int10--------
    rs1436288551,2
    --17702303(+) TATACA/TTATAC 2 -- int10--------
    rs17379621,2
    C--17702330(-) TACAGT/GCTTCa 2 -- int13Minor allele frequency- G:0.01MN NA 188
    rs1888689961,2
    --17702612(+) GTCAGA/GGAGTC 2 -- ut310--------
    rs1378997851,2
    C--17702734(+) GGGGAA/GGTGAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for SREBF1 (17713713 - 17740325 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SREBF1 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659754CNV Deletion23128226
    esv274268CNV Insertion20981092
    esv267802CNV Insertion20981092
    nsv513466CNV Insertion21212237
    nsv907768CNV Loss21882294
    dgv3074n71CNV Loss21882294
    dgv3073n71CNV Loss21882294
    nsv833385CNV Loss17160897
    nsv820244CNV Loss19587683
    nsv907748CNV Loss21882294

    Human Gene Mutation Database (HGMD): SREBF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SREBF1
    DNA2.0 Custom Variant and Variant Library Synthesis for SREBF1

    (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: 184756    OMIM disorders: --

    1 disease for SREBF1:    
    About MalaCards
    insulin resistance

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

    Find genes that share disorders with SREBF1           About GenesLikeMe

    Selected Novoseek inferred 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

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    PubMed articles for SREBF1 gene, integrated from 10 sources (see all 448):
    (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. (Genomics 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. (Cell 1993)
    3. Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated transcription factors controlling cellular lipogenesis, are associated with schizophrenia in German and Scandinavian samples. (PubMed id 18936756)1, 4, 9 Le Hellard S....Steen V.M. (Mol. Psychiatry 2010)
    4. The polymorphism Arg585Gln in the gene of the sterol regulatory element binding protein-1 (SREBP-1) is not a determinant of ketosis prone type 2 diabetes (KPD) in Africans. (PubMed id 19062325)1, 4, 9 Choukem S.P....Gautier J.F. (amp 2009)
    5. Association of variants in the sterol regulatory element-binding factor 1 (SREBF1) gene with type 2 diabetes, glycemia, and insulin resistance: a study of 15,734 Danish subjects. (PubMed id 18192539)1, 4, 9 Grarup N....Pedersen O. (Diabetes 2008)
    6. Alternative splicing produces a constitutively active form of human SREBP-1. (PubMed id 18267114)1, 2, 9 Harada N.... Nakaya Y. (Biochem. Biophys. Res. Commun. 2008)
    7. Genetic variant of the SREBF-1 gene is significantly related to cholesterol synthesis in man. (PubMed id 16005884)1, 4, 9 Laaksonen R....LehtimAoki T. (Atherosclerosis 2006)
    8. SREBF-1 gene polymorphisms are associated with obesity and type 2 diabetes in French obese and diabetic cohorts. (PubMed id 15277400)1, 4, 9 EberlAc D....Foufelle F. (Diabetes 2004)
    9. 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. (J. Biol. Chem. 1996)
    10. Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk. (PubMed id 19252981)1, 4, 9 Campa D....Kaaks R. (Breast Cancer Res. Treat. 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: 6720 HGNC: 11289 AceView: SREBF1 Ensembl:ENSG00000072310 euGenes: HUgn6720
    ECgene: SREBF1 Kegg: 6720 H-InvDB: SREBF1

    (According to HUGE)
    About This Section

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      --

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

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    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.)
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    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



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