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Aliases for SREBF1 Gene

Aliases for SREBF1 Gene

  • Sterol Regulatory Element Binding Transcription Factor 1 2 3
  • Class D Basic Helix-Loop-Helix Protein 1 3 4
  • SREBP-1 3 4
  • SREBP1 3 4
  • BHLHd1 3 4
  • Sterol Regulatory Element-Binding Transcription Factor 1 4
  • Sterol Regulatory Element-Binding Protein 1 3
  • SREBP-1c 3

External Ids for SREBF1 Gene

Summaries for SREBF1 Gene

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 homozygous familial hypercholesterolemia and obesity. Among its related pathways are L1CAM interactions and Regulation of Cholesterol Biosynthesis by SREBP (SREBF). GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is SREBF2.

UniProtKB/Swiss-Prot for SREBF1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SREBF1 Gene

Genomics for SREBF1 Gene

Genomic Location for SREBF1 Gene

Start:
17,810,399 bp from pter
End:
17,837,017 bp from pter
Size:
26,619 bases
Orientation:
Minus strand

Genomic View for SREBF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SREBF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SREBF1 Gene

Regulatory Elements for SREBF1 Gene

Proteins for SREBF1 Gene

  • Protein details for SREBF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36956-SRBP1_HUMAN
    Recommended name:
    Sterol regulatory element-binding protein 1
    Protein Accession:
    P36956
    Secondary Accessions:
    • B0I4X3
    • B0I4X4
    • D3DXC4
    • Q16062
    • Q59F52
    • Q6P4R7
    • Q6PFW7
    • Q6PJ36
    • Q8TAK9

    Protein attributes for SREBF1 Gene

    Size:
    1147 amino acids
    Molecular mass:
    121675 Da
    Quaternary structure:
    • 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. Interacts with CEBPA, the interaction produces a transcriptional synergy (By similarity).
    SequenceCaution:
    • Sequence=AAB28522.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD92846.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SREBF1 Gene

    Alternative splice isoforms for SREBF1 Gene

neXtProt entry for SREBF1 Gene

Proteomics data for SREBF1 Gene at MOPED

Post-translational modifications for SREBF1 Gene

  • 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
  • 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).
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys347, Lys379, Lys587, Lys675, Lys934, and Lys1070

No data available for DME Specific Peptides for SREBF1 Gene

Domains for SREBF1 Gene

Gene Families for SREBF1 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for SREBF1 Gene

UniProtKB/Swiss-Prot:

SRBP1_HUMAN
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.:
    • P36956
Family:
  • Belongs to the SREBP family.:
    • P36956
genes like me logo Genes that share domains with SREBF1: view

Function for SREBF1 Gene

Molecular function for SREBF1 Gene

GENATLAS Biochemistry: sterol regulatory element binding protein 1,controlling cholesterol homeostasis
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for SREBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding ISS --
GO:0003682 chromatin binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 16407292
GO:0005515 protein binding IPI 14701856
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with SREBF1: view

Phenotypes for SREBF1 Gene

genes like me logo Genes that share phenotypes with SREBF1: view

Animal Models for SREBF1 Gene

MGI Knock Outs for SREBF1:

Transcription Factor Targeting for SREBF1 Gene

Selected GeneGlobe predicted Target genes for SREBF1
Targeting motifs for SREBF1 Gene
HOMER Transcription Factor Regulatory Elements motif SREBF1
  • Consensus sequence: ATCACCCCAT Submotif: canonical Cell Type: HepG2 GeoId: GSE31477

No data available for Enzyme Numbers (IUBMB) for SREBF1 Gene

Localization for SREBF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SREBF1 Gene

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.
Processed sterol regulatory element-binding protein 1: Nucleus.
Isoform SREBP-1aDelta: Nucleus.
Isoform SREBP-1cDelta: Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SREBF1 Gene COMPARTMENTS Subcellular localization image for SREBF1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
nucleus 5
cytosol 4
peroxisome 3
extracellular 2
mitochondrion 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for SREBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005634 nucleus IDA 12202038
GO:0005635 nuclear envelope TAS 8156598
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with SREBF1: view

Pathways for SREBF1 Gene

genes like me logo Genes that share pathways with SREBF1: view

Pathways by source for SREBF1 Gene

Gene Ontology (GO) - Biological Process for SREBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0003062 regulation of heart rate by chemical signal IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 8156598
genes like me logo Genes that share ontologies with SREBF1: view

Compounds for SREBF1 Gene

(43) Novoseek inferred chemical compound relationships for SREBF1 Gene

Compound -log(P) Hits PubMed IDs
sterol 95.6 119
fatty acid 79.9 58
25-hydroxycholesterol 78 5
cholesterol 72.9 68
3-hydroxy-3-methylglutaryl-coa 72.4 3

(1) PharmGKB related drug/compound annotations for SREBF1 Gene

Drug/compound Annotation
fluvastatin CA
genes like me logo Genes that share compounds with SREBF1: view

Transcripts for SREBF1 Gene

Unigene Clusters for SREBF1 Gene

Sterol regulatory element binding transcription factor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SREBF1 Gene

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: - - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - - - - - -
SP7: - - -
SP8: - -
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: - - - - - - - - - - - - - - - - -
SP18: - - - - -
SP19:
SP20:
SP21: - -

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:
SP6: - - - - - -
SP7:
SP8:
SP9:
SP10: -
SP11: -
SP12: - -
SP13: -
SP14: - -
SP15: - -
SP16: - -
SP17: - -
SP18: - - - - - - - -
SP19:
SP20:
SP21:

Relevant External Links for SREBF1 Gene

GeneLoc Exon Structure for
SREBF1
ECgene alternative splicing isoforms for
SREBF1

Expression for SREBF1 Gene

mRNA expression in normal human tissues for SREBF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SREBF1 Gene

This gene is overexpressed in Adrenal Gland (6.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SREBF1 Gene

SOURCE GeneReport for Unigene cluster for SREBF1 Gene Hs.592123

mRNA Expression by UniProt/SwissProt for SREBF1 Gene

P36956-SRBP1_HUMAN
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
genes like me logo Genes that share expressions with SREBF1: view

Orthologs for SREBF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SREBF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SREBF1 36
  • 99 (n)
  • 98.73 (a)
cow
(Bos Taurus)
Mammalia SREBF1 36
  • 85.82 (n)
  • 84.54 (a)
SREBF1 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SREBF1 36
  • 87.2 (n)
  • 87.85 (a)
SREBF1 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Srebf1 36
  • 80.95 (n)
  • 81.18 (a)
Srebf1 16
Srebf1 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SREBF1 37
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SREBF1 37
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srebf1 36
  • 81.99 (n)
  • 81.64 (a)
chicken
(Gallus gallus)
Aves SREBF1 36
  • 69.49 (n)
  • 65.81 (a)
SREBP-1 37
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SREBF1 37
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.12057 36
tropical clawed frog
(Silurana tropicalis)
Amphibia srebf1 36
  • 65.86 (n)
  • 67.03 (a)
zebrafish
(Danio rerio)
Actinopterygii srebf1 36
  • 62.43 (n)
  • 61.34 (a)
srebf1 37
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000076 36
  • 49.7 (n)
  • 39.2 (a)
fruit fly
(Drosophila melanogaster)
Insecta HLH106 36
  • 48.43 (n)
  • 37.45 (a)
HLH106 37
  • 29 (a)
OneToMany
HLH106 38
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea sbp-1 37
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9273 37
  • 31 (a)
OneToMany
Species with no ortholog for SREBF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SREBF1 Gene

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

Paralogs for SREBF1 Gene

Paralogs for SREBF1 Gene

Selected SIMAP similar genes for SREBF1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with SREBF1: view

Variants for SREBF1 Gene

Sequence variations from dbSNP and Humsavar for SREBF1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs874163 -- 17,826,873(+) TACAA(A/C)CCAAA intron-variant
rs1042024 -- 17,812,769(-) CCCCC(C/G)GGCTT reference, synonymous-codon, nc-transcript-variant
rs1062463 -- 17,812,723(-) CTGAG(C/G)CGGCG missense, reference, nc-transcript-variant
rs1108511 -- 17,823,155(+) GGTGC(C/T)GAATA intron-variant
rs1616857 -- 17,812,213(-) TGGGA(A/G)AGAAA utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for SREBF1 Gene

Variant ID Type Subtype PubMed ID
nsv155 OTHER Inversion 15895083
nsv499114 OTHER Inversion 21111241
nsv907748 CNV Loss 21882294
dgv3072n71 CNV Loss 21882294
nsv833385 CNV Loss 17160897
dgv3073n71 CNV Loss 21882294
nsv522668 CNV Loss 19592680
dgv3074n71 CNV Loss 21882294
dgv3075n71 CNV Loss 21882294
dgv3076n71 CNV Loss 21882294
nsv907766 CNV Loss 21882294
nsv526904 CNV Loss 19592680
nsv817753 CNV Loss 17921354
nsv907767 CNV Loss 21882294
nsv907768 CNV Loss 21882294
esv2659754 CNV Deletion 23128226
nsv820244 CNV Loss 19587683
nsv513466 CNV Insertion 21212237
esv267802 CNV Insertion 20981092
esv274268 CNV Insertion 20981092

Relevant External Links for SREBF1 Gene

HapMap Linkage Disequilibrium report
SREBF1
Human Gene Mutation Database (HGMD)
SREBF1

Disorders for SREBF1 Gene

(17) Novoseek inferred disease relationships for SREBF1 Gene

Disease -log(P) Hits PubMed IDs
lipodystrophy 66.9 1
fatty liver 62.6 7
insulin resistance 50.3 5
hyperinsulinemia 39.3 5
obesity 37.4 7

Relevant External Links for SREBF1

Genetic Association Database (GAD)
SREBF1
Human Genome Epidemiology (HuGE) Navigator
SREBF1
genes like me logo Genes that share disorders with SREBF1: view

No data available for UniProtKB/Swiss-Prot for SREBF1 Gene

Publications for SREBF1 Gene

  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. (PMID: 7759101) Hua X. … Hobbs H.H. (Genomics 1995) 2 3 4 23
  2. SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene. (PMID: 8402897) Yokoyama C. … Brown M.S. (Cell 1993) 2 3 4 23
  3. Regulated cleavage of sterol regulatory element binding proteins requires sequences on both sides of the endoplasmic reticulum membrane. (PMID: 8626610) Hua X. … Goldstein J.L. (J. Biol. Chem. 1996) 3 4 23
  4. SREBF-1 gene polymorphisms are associated with obesity and type 2 diabetes in French obese and diabetic cohorts. (PMID: 15277400) EberlAc D. … Foufelle F. (Diabetes 2004) 3 23 49
  5. Genetic variant of the SREBF-1 gene is significantly related to cholesterol synthesis in man. (PMID: 16005884) Laaksonen R. … LehtimAoki T. (Atherosclerosis 2006) 3 23 49

Products for SREBF1 Gene

Sources for SREBF1 Gene

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