Human Gene SREBF1 (ENST00000261646.11_13) from GENCODE V47lift37
  Description: sterol regulatory element binding transcription factor 1, transcript variant 17 (from RefSeq NR_170990.1)
Gencode Transcript: ENST00000261646.11_13
Gencode Gene: ENSG00000072310.18_17
Transcript (Including UTRs)
   Position: hg19 chr17:17,714,648-17,740,300 Size: 25,653 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr17:17,715,936-17,740,131 Size: 24,196 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:17,714,648-17,740,300)mRNA (may differ from genome)Protein (1147 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SRBP1_HUMAN
DESCRIPTION: RecName: Full=Sterol regulatory element-binding protein 1; Short=SREBP-1; AltName: Full=Class D basic helix-loop-helix protein 1; Short=bHLHd1; AltName: Full=Sterol regulatory element-binding transcription factor 1; Contains: RecName: Full=Processed sterol regulatory element-binding protein 1;
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').
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.
INTERACTION: P45481:Crebbp (xeno); NbExp=2; IntAct=EBI-948328, EBI-296306; Q96RN5:MED15; NbExp=6; IntAct=EBI-948328, EBI-394506; Q96EB6:SIRT1; NbExp=2; IntAct=EBI-948338, EBI-1802965;
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.
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.
PTM: 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-7.
PTM: 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).
SIMILARITY: Belongs to the SREBP family.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.
SEQUENCE CAUTION: Sequence=AAB28522.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD92846.1; Type=Miscellaneous discrepancy; Note=Intron retention;
WEB RESOURCE: Name=Wikipedia; Note=Sterol regulatory element- binding protein entry; URL="http://en.wikipedia.org/wiki/Sterol_regulatory_element_binding_protein";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SREBF1
Diseases sorted by gene-association score: fatty liver disease (15), smith-magenis syndrome (11), potocki-luspski syndrome (9), cardiomyopathy, dilated, 1a (6), lipid storage disease (4), congenital muscular dystrophy due to lmna mutation (4), obesity (2), overnutrition (2), inherited metabolic disorder (1), diabetes mellitus, noninsulin-dependent (1), acquired metabolic disease (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 167.15 RPKM in Adrenal Gland
Total median expression: 1293.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -94.10169-0.557 Picture PostScript Text
3' UTR -492.401288-0.382 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1AM9 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P36956
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0000982 transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0004879 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0032810 sterol response element binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0044877 macromolecular complex binding
GO:0046983 protein dimerization activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0003062 regulation of heart rate by chemical signal
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0006629 lipid metabolic process
GO:0007568 aging
GO:0007623 circadian rhythm
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0008286 insulin receptor signaling pathway
GO:0008610 lipid biosynthetic process
GO:0009267 cellular response to starvation
GO:0009749 response to glucose
GO:0010867 positive regulation of triglyceride biosynthetic process
GO:0014070 response to organic cyclic compound
GO:0019217 regulation of fatty acid metabolic process
GO:0030324 lung development
GO:0030522 intracellular receptor signaling pathway
GO:0031065 positive regulation of histone deacetylation
GO:0031647 regulation of protein stability
GO:0032094 response to food
GO:0032526 response to retinoic acid
GO:0032570 response to progesterone
GO:0032869 cellular response to insulin stimulus
GO:0033762 response to glucagon
GO:0033993 response to lipid
GO:0042493 response to drug
GO:0042789 mRNA transcription from RNA polymerase II promoter
GO:0043434 response to peptide hormone
GO:0045444 fat cell differentiation
GO:0045540 regulation of cholesterol biosynthetic process
GO:0045542 positive regulation of cholesterol biosynthetic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046676 negative regulation of insulin secretion
GO:0050796 regulation of insulin secretion
GO:0051591 response to cAMP
GO:0070542 response to fatty acid
GO:0071398 cellular response to fatty acid
GO:1902895 positive regulation of pri-miRNA transcription from RNA polymerase II promoter
GO:1903146 regulation of mitophagy
GO:1903214 regulation of protein targeting to mitochondrion

Cellular Component:
GO:0000139 Golgi membrane
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031410 cytoplasmic vesicle
GO:0032991 macromolecular complex
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AH004383 - Homo sapiens sterol regulatory element 1 binding protein (SREBP-1) mRNA, partial cds.
AK128320 - Homo sapiens cDNA FLJ46461 fis, clone THYMU3021586, highly similar to Sterol regulatory element-binding protein 1.
AB209609 - Homo sapiens mRNA for sterol regulatory element binding transcription factor 1 isoform a variant protein.
AK091131 - Homo sapiens cDNA FLJ33812 fis, clone CTONG2002270, highly similar to Sterol regulatory element-binding protein 1.
BC023621 - Homo sapiens sterol regulatory element binding transcription factor 1, mRNA (cDNA clone IMAGE:4650326), partial cds.
BC026962 - Homo sapiens, clone IMAGE:5103173, mRNA, partial cds.
BC063281 - Homo sapiens sterol regulatory element binding transcription factor 1, mRNA (cDNA clone MGC:71539 IMAGE:5264244), complete cds.
BC057388 - Homo sapiens sterol regulatory element binding transcription factor 1, mRNA (cDNA clone MGC:54239 IMAGE:5786483), complete cds.
U00968 - Human SREBP-1 mRNA, complete cds.
AK095325 - Homo sapiens cDNA FLJ38006 fis, clone CTONG2012422, highly similar to Sterol regulatory element-binding protein 1.
AK297113 - Homo sapiens cDNA FLJ55718 complete cds, highly similar to Sterol regulatory element-binding protein 1.
JD052129 - Sequence 33153 from Patent EP1572962.
JD108795 - Sequence 89819 from Patent EP1572962.
JD361304 - Sequence 342328 from Patent EP1572962.
JD204072 - Sequence 185096 from Patent EP1572962.
AK293795 - Homo sapiens cDNA FLJ55675 complete cds, highly similar to Sterol regulatory element-binding protein 1.
AK294800 - Homo sapiens cDNA FLJ55891 complete cds, highly similar to Sterol regulatory element-binding protein 1.
JD257190 - Sequence 238214 from Patent EP1572962.
JD075834 - Sequence 56858 from Patent EP1572962.
JD073233 - Sequence 54257 from Patent EP1572962.
JD414236 - Sequence 395260 from Patent EP1572962.
KJ897601 - Synthetic construct Homo sapiens clone ccsbBroadEn_06995 SREBF1 gene, encodes complete protein.
JD139267 - Sequence 120291 from Patent EP1572962.
JD466026 - Sequence 447050 from Patent EP1572962.
AB373959 - Homo sapiens SREBP-1c (delta) mRNA for sterol regulatory element-binding protein-1c (delta), complete cds.
AB373958 - Homo sapiens SREBP-1a (delta) mRNA for sterol regulatory element-binding protein-1a (delta), complete cds.
CU691204 - Synthetic construct Homo sapiens gateway clone IMAGE:100023188 5' read SREBF1 mRNA.
JD423115 - Sequence 404139 from Patent EP1572962.
DD153964 - New method.
DD153965 - New method.
JD503769 - Sequence 484793 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_s1pPathway - SREBP control of lipid synthesis

Reactome (by CSHL, EBI, and GO)

Protein P36956 (Reactome details) participates in the following event(s):

R-HSA-1368082 RORA activates gene expression
R-HSA-400253 Circadian Clock
R-HSA-2065549 SREBP1A,1C,2 binds SREBP1A,1C,2 forming dimers
R-HSA-1655851 S2P hydrolyzes SREBP1A,1C,2
R-HSA-1655842 S1P hydrolyzes SREBP1A,1C,2
R-HSA-2065966 SREBP1A,1C,2 binds the TM7SF2 promoter
R-HSA-2426146 SREBP1A,1C,2 binds the FDFT1 promoter
R-HSA-2426147 SREBP1A,1C,2 binds the FDPS promoter
R-HSA-2426149 SREBP1A,1C,2 binds the ELOVL6 promoter
R-HSA-2426150 SREBP1A,1C,2 binds the HMGCS1 promoter
R-HSA-2065539 SREBP1A,1C,2:Importin beta-1 dissociates
R-HSA-2426148 SREBP1A,1C binds the FASN promoter
R-HSA-2426153 SREBP1A,1C binds the ACACB promoter
R-HSA-2426158 SREBP1A,1C binds the GPAM promoter
R-HSA-2426160 SREBP1A,1C,2 binds the ACACA promoter
R-HSA-6800052 SREBP1A,1C binds the SCD gene
R-HSA-2065550 SREBP1A,1C,2 binds Importin beta-1
R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF)
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)
R-HSA-8957322 Metabolism of steroids
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism
R-HSA-1655851 S2P hydrolyzes SREBP1A,1C,2
R-HSA-1655842 S1P hydrolyzes SREBP1A,1C,2
R-HSA-2065549 SREBP1A,1C,2 binds SREBP1A,1C,2 forming dimers
R-HSA-2065966 SREBP1A,1C,2 binds the TM7SF2 promoter
R-HSA-2426146 SREBP1A,1C,2 binds the FDFT1 promoter
R-HSA-2426147 SREBP1A,1C,2 binds the FDPS promoter
R-HSA-2426149 SREBP1A,1C,2 binds the ELOVL6 promoter
R-HSA-2426150 SREBP1A,1C,2 binds the HMGCS1 promoter
R-HSA-2065539 SREBP1A,1C,2:Importin beta-1 dissociates
R-HSA-2426148 SREBP1A,1C binds the FASN promoter
R-HSA-2426153 SREBP1A,1C binds the ACACB promoter
R-HSA-2426158 SREBP1A,1C binds the GPAM promoter
R-HSA-2426160 SREBP1A,1C,2 binds the ACACA promoter
R-HSA-6800052 SREBP1A,1C binds the SCD gene
R-HSA-2426144 SREBP1A,2 binds the MVD promoter
R-HSA-2426151 SREBP1A,2 binds the SQLE promoter
R-HSA-2426152 SREBP1A,2 binds the IDI1 promoter
R-HSA-2426154 SREBP1A,2 binds the LSS promoter
R-HSA-2426155 SREBP1A,2 binds the DHCR7 promoter
R-HSA-2426156 SREBP1A,2 binds the PMVK promoter
R-HSA-2426157 SREBP1A,2 binds the MVK promoter
R-HSA-2426161 SREBP1A,2 binds the GGPS1 promoter
R-HSA-2426162 SREBP1A,2 binds the HMGCR promoter
R-HSA-2426163 SREBP1A,2 binds the CYP51A1 promoter
R-HSA-2426164 SREBP1A,2 binds the SC5DL promoter
R-HSA-2065550 SREBP1A,1C,2 binds Importin beta-1
R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF)
R-HSA-8957322 Metabolism of steroids
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B0I4X3, B0I4X4, BHLHD1, D3DXC4, ENST00000261646.1, ENST00000261646.10, ENST00000261646.2, ENST00000261646.3, ENST00000261646.4, ENST00000261646.5, ENST00000261646.6, ENST00000261646.7, ENST00000261646.8, ENST00000261646.9, NR_170990, P36956, Q16062, Q59F52, Q6P4R7, Q6PFW7, Q6PJ36, Q8TAK9, SRBP1_HUMAN, SREBF1 , SREBP1 , uc317grz.1, uc317grz.2
UCSC ID: ENST00000261646.11_13
RefSeq Accession: NM_004176.5
Protein: P36956 (aka SRBP1_HUMAN or SRE1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.