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SREBF1 sterol regulatory element binding transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 6720, updated on 2-Oct-2018

Summary

Official Symbol
SREBF1provided by HGNC
Official Full Name
sterol regulatory element binding transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:11289
See related
Ensembl:ENSG00000072310 MIM:184756; Vega:OTTHUMG00000059313
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SREBP1; bHLHd1
Summary
This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017]
Expression
Ubiquitous expression in fat (RPKM 35.7), adrenal (RPKM 34.6) and 24 other tissues See more
Orthologs

Genomic context

See SREBF1 in Genome Data Viewer
Location:
17p11.2
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (17811349..17837017, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17714663..17740331, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene retinoic acid induced 1 Neighboring gene RAI1 antisense RNA 1 Neighboring gene Smith-Magenis syndrome chromosome region, candidate 5 Neighboring gene microRNA 6777 Neighboring gene microRNA 33b Neighboring gene target of myb1 like 2 membrane trafficking protein Neighboring gene uncharacterized LOC107984989 Neighboring gene brain protein I3 pseudogene 3 Neighboring gene dynein regulatory complex subunit 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
matrix gag HIV-1 MA increases SREBF1 mRNA expression in HepG2 cells and praimary hepatocytes PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystem (from WikiPathways)
    AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystemAMPK signaling pathway, a fuel sensor and regulator, promotes ATP-producing and inhibits ATP-consuming pathways in various tissues. AMPK is a heterotrimer composed of alpha-catalytic and beta and gam...
  • AMPK signaling pathway, organism-specific biosystem (from KEGG)
    AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • AMPK signaling pathway, conserved biosystem (from KEGG)
    AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • Activation of gene expression by SREBF (SREBP), organism-specific biosystem (from REACTOME)
    Activation of gene expression by SREBF (SREBP), organism-specific biosystemAfter transiting to the nucleus SREBPs (SREBP1A/1C/2, SREBFs) bind short sequences, sterol regulatory elements (SREs), in the promoters of target genes (reviewed in Eberle et al. 2004, Weber et al. 2...
  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
  • Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystem (from WikiPathways)
    Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystemThe hepatic ANGPTL8 (Angiopoietin Like Protein 8) regulatory pathway represents an up-to-date curated interactive pathway for all of the interactions from the known regulators of ANGPTL8 and updated ...
  • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
    Caspase cascade in apoptosis, organism-specific biosystem
    Caspase cascade in apoptosis
  • Circadian Clock, organism-specific biosystem (from REACTOME)
    Circadian Clock, organism-specific biosystemAt the center of the mammalian circadian clock is a negative transcription/translation-based feedback loop: The BMAL1:CLOCK/NPAS2 (ARNTL:CLOCK/NPAS2) heterodimer transactivates CRY and PER genes by b...
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
    Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
  • ID signaling pathway, organism-specific biosystem (from WikiPathways)
    ID signaling pathway, organism-specific biosystemThe Inhibitor of DNA binding (ID) proteins belong to the class V HLH family of transcription factors. Four ID proteins (ID 1-4)are known in humans. Unlike the basic HLH (bHLH) transcription factors, ...
  • Insulin resistance, organism-specific biosystem (from KEGG)
    Insulin resistance, organism-specific biosystemInsulin resistance is a condition where cells become resistant to the effects of insulin. It is often found in people with health disorders, including obesity, type 2 diabetes mellitus, non-alcoholic...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
    Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin signaling pathway, conserved biosystem (from KEGG)
    Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Liver X Receptor Pathway, organism-specific biosystem (from WikiPathways)
    Liver X Receptor Pathway, organism-specific biosystemThe liver X receptor (LXR) is a nuclear receptor involved in the regulation of liver-specific processes, such as cholesterol, fatty acid and glucose homeostasis.
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • Non-alcoholic fatty liver disease (NAFLD), conserved biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), conserved biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • PPARA activates gene expression, organism-specific biosystem (from REACTOME)
    PPARA activates gene expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
  • RORA activates gene expression, organism-specific biosystem (from REACTOME)
    RORA activates gene expression, organism-specific biosystemAs inferred from mouse, RORA binds ROR elements (ROREs) in DNA and recruits the coactivators PPARGC1A (PGC-1alpha) and p300 (EP300, a histone acetylase) to activate transcription.
  • Regulation of cholesterol biosynthesis by SREBP (SREBF), organism-specific biosystem (from REACTOME)
    Regulation of cholesterol biosynthesis by SREBP (SREBF), organism-specific biosystemSterol regulatory element binding proteins (SREBPs, SREBFs) respond to low cholesterol concentrations by transiting to the nucleus and activating genes involved in cholesterol and lipid biosynthesis ...
  • Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
    Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
  • SREBF and miR33 in cholesterol and lipid homeostasis, organism-specific biosystem (from WikiPathways)
    SREBF and miR33 in cholesterol and lipid homeostasis, organism-specific biosystemThis pathway describes transcription factor-microRNA circuits governing cholesterol and lipid homeostasis. It is based on a seminar by Dr. Anders Näär.
  • Sterol Regulatory Element-Binding Proteins (SREBP) signalling, organism-specific biosystem (from WikiPathways)
    Sterol Regulatory Element-Binding Proteins (SREBP) signalling, organism-specific biosystemSterol regulatory element-binding proteins (SREBPs) are membrane-bound proteins that act as transcription factors. They regulate lipid, especially cholesterol, biosynthesis and uptake at a transcript...
  • Transcriptional regulation of white adipocyte differentiation, organism-specific biosystem (from REACTOME)
    Transcriptional regulation of white adipocyte differentiation, organism-specific biosystemAdipogenesis is the process of cell differentiation by which preadipocytes become adipocytes. During this process the preadipocytes cease to proliferate, begin to accumulate lipid droplets and develo...
  • mTOR signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    mTOR signaling pathway, organism-specific biosystem
    mTOR signaling pathway

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
enzyme activator activity IEA
Inferred from Electronic Annotation
more info
 
nuclear receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
sterol response element binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
cellular response to fatty acid IEA
Inferred from Electronic Annotation
more info
 
cellular response to starvation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm TAS
Traceable Author Statement
more info
 
fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
lipid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
lung development IEA
Inferred from Electronic Annotation
more info
 
mRNA transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
negative regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of histone deacetylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
positive regulation of triglyceride biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of autophagy of mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
regulation of fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of heart rate by chemical signal IEA
Inferred from Electronic Annotation
more info
 
regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein targeting to mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
response to cAMP IEA
Inferred from Electronic Annotation
more info
 
response to food IEA
Inferred from Electronic Annotation
more info
 
response to glucagon IEA
Inferred from Electronic Annotation
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
response to progesterone IEA
Inferred from Electronic Annotation
more info
 
response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ER to Golgi transport vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sterol regulatory element-binding protein 1
Names
class D basic helix-loop-helix protein 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029029.1 RefSeqGene

    Range
    5001..30663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005291.2NP_001005291.1  sterol regulatory element-binding protein 1 isoform a

    See identical proteins and their annotated locations for NP_001005291.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC122129, BC026962, BC057388, BC063281, BI906407, BQ025047
    Consensus CDS
    CCDS32583.1
    UniProtKB/Swiss-Prot
    P36956
    Related
    ENSP00000348069.4, OTTHUMP00000065591, ENST00000355815.8, OTTHUMT00000131772
    Conserved Domains (2) summary
    cd00083
    Location:351408
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam17040
    Location:156356
    CBP_CCPA; Cellulose-complementing protein A
  2. NM_001321096.2NP_001308025.1  sterol regulatory element-binding protein 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as SREBP-1c) differs in the 5' UTR and 5' coding region, and has a shorter 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct N-terminus compared to isoforms a and b.
    Source sequence(s)
    AC122129, AK091131, BE208013, DA113045, DB084001
    UniProtKB/TrEMBL
    B3KR77
    Conserved Domains (2) summary
    cd00083
    Location:297354
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam17040
    Location:102302
    CBP_CCPA; Cellulose-complementing protein A
  3. NM_004176.4NP_004167.3  sterol regulatory element-binding protein 1 isoform b

    See identical proteins and their annotated locations for NP_004167.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as SREBP-1a) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b, or SREBP-1a) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC122129, BC026962, BC057388, BC063281, BI906407, BQ025047
    Consensus CDS
    CCDS11189.1
    UniProtKB/Swiss-Prot
    P36956
    Related
    ENSP00000261646.5, OTTHUMP00000065590, ENST00000261646.9, OTTHUMT00000131771
    Conserved Domains (3) summary
    cd00083
    Location:321378
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    cl25496
    Location:49320
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cl27975
    Location:87212
    EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    17811349..17837017 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450895.1XP_024306663.1  sterol regulatory element-binding protein 1 isoform X3

    Conserved Domains (3) summary
    cd00083
    Location:321378
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    cl25496
    Location:49320
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cl27975
    Location:87212
    EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
  2. XM_024450894.1XP_024306662.1  sterol regulatory element-binding protein 1 isoform X2

    Conserved Domains (2) summary
    cd00083
    Location:319376
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    cl27975
    Location:87212
    EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
  3. XM_024450893.1XP_024306661.1  sterol regulatory element-binding protein 1 isoform X1

    Conserved Domains (3) summary
    cd00083
    Location:321378
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    cl25496
    Location:49320
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cl27975
    Location:87212
    EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
  4. XM_017024970.2XP_016880459.1  sterol regulatory element-binding protein 1 isoform X4

    UniProtKB/TrEMBL
    A8MTU8
  5. XM_017024971.1XP_016880460.1  sterol regulatory element-binding protein 1 isoform X5

RNA

  1. XR_002958058.1 RNA Sequence

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