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Aliases for SREBF1 Gene

Aliases for SREBF1 Gene

  • Sterol Regulatory Element Binding Transcription Factor 1 2 3 5
  • Class D Basic Helix-Loop-Helix Protein 1 3 4
  • SREBP1 3 4
  • BHLHd1 3 4
  • Sterol Regulatory Element-Binding Transcription Factor 1 4
  • SREBP-1c 3
  • SREBP1a 3
  • SREBP-1 4

External Ids for SREBF1 Gene

Previous GeneCards Identifiers for SREBF1 Gene

  • GC17M018030
  • GC17M019087
  • GC17M017657
  • GC17M017915
  • GC17M017655
  • GC17M017714
  • GC17M017466

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. [provided by RefSeq, Mar 2016]

GeneCards Summary for SREBF1 Gene

SREBF1 (Sterol Regulatory Element Binding Transcription Factor 1) is a Protein Coding gene. Diseases associated with SREBF1 include fatty liver disease and familial partial lipodystrophy. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Regulatory Elements for SREBF1 Gene

Promoters for SREBF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SREBF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SREBF1 Gene

Chromosome:
17
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

Genes around SREBF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SREBF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SREBF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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).
  • Ubiquitination at Lys 347, Lys 379, Lys 675, Lys 934, and Lys 1070
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SREBF1 Gene

Domains & Families for SREBF1 Gene

Gene Families for SREBF1 Gene

Protein Domains for SREBF1 Gene

Graphical View of Domain Structure for InterPro Entry

P36956

UniProtKB/Swiss-Prot:

SRBP1_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Belongs to the SREBP family.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Family:
  • Belongs to the SREBP family.
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:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0005515 protein binding IPI 14701856
GO:0019901 protein kinase binding IEA --
GO:0032810 sterol response element binding IDA 16407292
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with SREBF1: view
genes like me logo Genes that share phenotypes with SREBF1: view

Animal Models for SREBF1 Gene

MGI Knock Outs for SREBF1:

Animal Model Products

Transcription Factor Targets for SREBF1 Gene

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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology 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. {ECO:0000250 UniProtKB:Q9WTN3}.
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
cytosol 5
endoplasmic reticulum 5
golgi apparatus 5
nucleus 5
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:0005635 nuclear envelope TAS 8156598
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SREBF1: view

Pathways & Interactions for SREBF1 Gene

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

SIGNOR curated interactions for SREBF1 Gene

Activates:
Is activated by:
Is inactivated by:

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:0006357 regulation of transcription from RNA polymerase II promoter TAS 8156598
GO:0006629 lipid metabolic process TAS 8156598
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with SREBF1: view

Drugs & Compounds for SREBF1 Gene

(28) Drugs for SREBF1 Gene - From: Novoseek and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fluvastatin Approved Pharma Competitive, Inhibitor 58

(16) Additional Compounds for SREBF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 differential expression in normal tissues according to GTEx for SREBF1 Gene

This gene is overexpressed in Adrenal Gland (x6.5).

Protein differential expression in normal tissues from HIPED for SREBF1 Gene

This gene is overexpressed in Fetal gut (30.4), Adipocyte (17.5), and Testis (14.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SREBF1: view

Protein tissue co-expression partners for SREBF1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SREBF1 Gene

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 35
  • 99 (n)
  • 98.73 (a)
cow
(Bos Taurus)
Mammalia SREBF1 36
  • 84 (a)
OneToOne
SREBF1 35
  • 85.82 (n)
  • 84.54 (a)
dog
(Canis familiaris)
Mammalia SREBF1 35
  • 87.2 (n)
  • 87.85 (a)
SREBF1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Srebf1 16
Srebf1 35
  • 80.95 (n)
  • 81.18 (a)
Srebf1 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SREBF1 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SREBF1 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srebf1 35
  • 81.99 (n)
  • 81.64 (a)
chicken
(Gallus gallus)
Aves SREBP-1 36
  • 64 (a)
OneToOne
SREBF1 35
  • 69.49 (n)
  • 65.81 (a)
lizard
(Anolis carolinensis)
Reptilia SREBF1 36
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.12057 35
tropical clawed frog
(Silurana tropicalis)
Amphibia srebf1 35
  • 65.86 (n)
  • 67.03 (a)
zebrafish
(Danio rerio)
Actinopterygii srebf1 36
  • 53 (a)
OneToOne
srebf1 35
  • 62.43 (n)
  • 61.34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000076 35
  • 49.7 (n)
  • 39.2 (a)
fruit fly
(Drosophila melanogaster)
Insecta HLH106 36
  • 29 (a)
OneToMany
HLH106 35
  • 48.43 (n)
  • 37.45 (a)
HLH106 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea sbp-1 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9273 36
  • 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

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
rs1062463 -- 17,812,723(-) CTGAG(C/G)CGGCG nc-transcript-variant, reference, missense
rs1737960 -- 17,812,098(-) GAGAA(A/T)TAAAA nc-transcript-variant, utr-variant-3-prime
rs1617742 -- 17,812,096(-) GAAAT(A/T)AAAAT nc-transcript-variant, utr-variant-3-prime
rs2228461 - 17,816,006(-) TGCCC(A/G)CCAGG nc-transcript-variant, reference, missense
rs1042024 -- 17,812,769(-) CCCCC(C/G)GGCTT nc-transcript-variant, reference, synonymous-codon

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

Variation tolerance for SREBF1 Gene

Residual Variation Intolerance Score: 71.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.50; 64.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SREBF1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SREBF1 Gene

Disorders for SREBF1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SREBF1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fatty liver disease
  • alcoholic fatty liver
familial partial lipodystrophy
  • dunnigan syndrome
hepatocellular adenoma
  • adenoma hepatocellular
homozygous familial hypercholesterolemia
  • hofh
overnutrition
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SREBF1

Genetic Association Database (GAD)
SREBF1
Human Genome Epidemiology (HuGE) Navigator
SREBF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SREBF1
genes like me logo Genes that share disorders with SREBF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  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 23
  3. Androgen receptor survival signaling is blocked by anti-beta2-microglobulin monoclonal antibody via a MAPK/lipogenic pathway in human prostate cancer cells. (PMID: 20071336) Huang W.C. … Chung L.W. (J. Biol. Chem. 2010) 3 23
  4. Polyunsaturated fatty acids selectively suppress sterol regulatory element-binding protein-1 through proteolytic processing and autoloop regulatory circuit. (PMID: 20145241) Takeuchi Y. … Shimano H. (J. Biol. Chem. 2010) 3 23
  5. High density lipoprotein inhibits the activation of sterol regulatory element-binding protein-1 in cultured cells. (PMID: 20171215) Yoshida M. … Nakaya Y. (FEBS Lett. 2010) 3 23

Products for SREBF1 Gene

Sources for SREBF1 Gene

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