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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 mem... See more...
Aliases for SREBF1 Gene
Aliases for SREBF1 Gene
External Ids for SREBF1 Gene
- HGNC: 11289
- NCBI Entrez Gene: 6720
- Ensembl: ENSG00000072310
- OMIM®: 184756
- UniProtKB/Swiss-Prot: P36956
Previous GeneCards Identifiers for SREBF1 Gene
- GC17M018030
- GC17M019087
- GC17M017657
- GC17M017915
- GC17M017655
- GC17M017714
- GC17M017466
Summaries for SREBF1 Gene
-
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]
GeneCards Summary for SREBF1 Gene
SREBF1 (Sterol Regulatory Element Binding Transcription Factor 1) is a Protein Coding gene. Diseases associated with SREBF1 include Ifap Syndrome 2 and Mucoepithelial Dysplasia, Hereditary. Among its related pathways are BMAL1-CLOCK,NPAS2 activates circadian gene expression and Apoptosis and survival Caspase cascade. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is SREBF2.
UniProtKB/Swiss-Prot Summary for SREBF1 Gene
-
[Sterol regulatory element-binding protein 1]: Precursor of the transcription factor form (Processed sterol regulatory element-binding protein 1), which is embedded in the endoplasmic reticulum membrane (PubMed:32322062). Low sterol concentrations promote processing of this form, releasing the transcription factor form that translocates into the nucleus and activates transcription of genes involved in cholesterol biosynthesis and lipid homeostasis (By similarity).
-
[Processed sterol regulatory element-binding protein 1]: Key transcription factor that regulates expression of genes involved in cholesterol biosynthesis and lipid homeostasis (PubMed:8402897, PubMed:12177166, PubMed:32322062). 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') (PubMed:8402897, PubMed:12177166). Regulates the promoters of genes involved in cholesterol biosynthesis and the LDL receptor (LDLR) pathway of sterol regulation (PubMed:8402897, PubMed:12177166, PubMed:32322062).
-
[Isoform SREBP-1A]: Isoform expressed only in select tissues, which has higher transcriptional activity compared to SREBP-1C (By similarity). Able to stimulate both lipogenic and cholesterogenic gene expression (PubMed:12177166). Has a role in the nutritional regulation of fatty acids and triglycerides in lipogenic organs such as the liver (By similarity). Required for innate immune response in macrophages by regulating lipid metabolism (By similarity).
-
[Isoform SREBP-1C]: Predominant isoform expressed in most tissues, which has weaker transcriptional activity compared to isoform SREBP-1A (By similarity). Primarily controls expression of lipogenic gene (PubMed:12177166). Strongly activates global lipid synthesis in rapidly growing cells (By similarity).
-
[Isoform SREBP-1aDelta]: The absence of Golgi proteolytic processing requirement makes this isoform constitutively active in transactivation of lipogenic gene promoters.
-
[Isoform SREBP-1cDelta]: The absence of Golgi proteolytic processing requirement makes this isoform constitutively active in transactivation of lipogenic gene promoters.
Additional gene information for SREBF1 Gene
- HGNC (11289)
- NCBI Entrez Gene (6720)
- Ensembl (ENSG00000072310)
- OMIM® (184756)
- UniProtKB/Swiss-Prot (P36956)
- Open Targets Platform(ENSG00000072310)
- Monarch Initiative
- Search for SREBF1 at DataMed
- Search for SREBF1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SREBF1 Gene
Genomics for SREBF1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SREBF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SREBF1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SREBF1
- Top Transcription factor binding sites by QIAGEN in the SREBF1 gene promoter:
-
- PPAR-gamma1
- PPAR-gamma2
- STAT3
- STAT5A
Genomic Locations for SREBF1 Gene
Latest Assembly
- chr17:17,810,399-17,837,017
- (GRCh38/hg38)
- Size:
- 26,619 bases
- Orientation:
- Minus strand
Previous Assembly
- chr17:17,714,648-17,740,300
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 25,653 bases
- Orientation:
- Minus strand
- chr17:17,713,713-17,740,325
- (GRCh37/hg19 by Ensembl)
- Size:
- 26,613 bases
- Orientation:
- Minus strand
Genomic View for SREBF1 Gene
Genes around SREBF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17p11.2 by HGNC
- 17p11.2 by Entrez Gene
- 17p11.2 by Ensembl
SREBF1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B0I4X3
- B0I4X4
- D3DXC4
- Q16062
- Q59F52
- Q6P4R7
- Q6PFW7
- Q6PJ36
- Q8TAK9
Protein attributes for SREBF1 Gene
- Size:
- 1147 amino acids
- Molecular mass:
- 121675 Da
- Quaternary structure:
-
- [Sterol regulatory element-binding protein 1]: Forms a tight complex with SCAP, the SCAP-SREBP complex, in the endoplasmic reticulum membrane.
- [Processed sterol regulatory element-binding protein 1]: Efficient DNA binding of the soluble transcription factor fragment requires dimerization with another bHLH protein (PubMed:8402897). Interacts with CEBPA, the interaction produces a transcriptional synergy (By similarity). Interacts with LMNA (By similarity).
- SequenceCaution:
-
- Sequence=AAB28522.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAD92846.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
Protein Expression for SREBF1 Gene
Post-translational modifications for SREBF1 Gene
- [Sterol regulatory element-binding protein 1]: Processed in the Golgi apparatus, releasing the protein from the membrane (PubMed:8626610, PubMed:32322062). At low cholesterol the SCAP-SREBP complex is recruited into COPII vesicles for export from the endoplasmic reticulum (PubMed:8626610, PubMed:32322062). In the Golgi, complex SREBPs are cleaved sequentially by site-1 (MBTPS1, S1P) and site-2 (MBTPS2, S2P) protease (PubMed:8626610, PubMed:32322062). 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, releasing the transcription factor from the Golgi membrane (PubMed:32322062).
- Phosphorylated by AMPK, leading to suppress protein processing and nuclear translocation, and repress target gene expression (By similarity). Phosphorylation at Ser-402 by SIK1 represses activity possibly by inhibiting DNA-binding (By similarity).
- [Processed sterol regulatory element-binding protein 1]: Ubiquitinated; the nuclear form has a rapid turnover and is rapidly ubiquitinated and degraded by the proteasome in the nucleus.
-
Ubiquitination at Lys347, Lys379, Lys675, Lys934, and Lys1070
- NX_P36956 (NX_P36956-1)
- Modification sites at PhosphoSitePlus
Other Protein References for SREBF1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences SREBF1 / SREBP-1 Antibody
- G Biosciences Immunotagā¢ SREBP-1 Antibody and Immunotagā¢ Phospho-SREBP-1 (Ser439) Antibody
-
Custom Antibody ServicesOriGene Antibodies for SREBF1
- Novus Biologicals Antibodies for SREBF1
-
Abcam antibodies for SREBF1
- Invitrogen Antibodies for SREBF1 (AFLGC-SREBF1)
-
Boster Bio Antibodies for SREBF1
-
Custom Antibody ServicesProSci Antibodies for SREBF1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SREBF1
Protein products for research
-
OriGene Purified Proteins for SREBF1
- Search Origene for MassSpec and Protein Over-expression Lysates for SREBF1
- Origene Custom Protein Services for SREBF1
-
Abcam proteins for SREBF1
Assay products for research
No data available for DME Specific Peptides for SREBF1 Gene
Domains & Families for SREBF1 Gene
Gene Families for SREBF1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
- Transcription factors
Protein Domains for SREBF1 Gene
- InterPro:
- Blocks:
-
- Basic helix-loop-helix dimerization domain bHLH
- ProtoNet:
Suggested Antigen Peptide Sequences for SREBF1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ38006 fis, clone CTONG2012422, highly similar to Sterol regulatory element-binding protein 1 (A8MTU8_HUMAN)
- cDNA FLJ55891, highly similar to Sterol regulatory element-binding protein 1 (B4DGV9_HUMAN)
- Sterol regulatory element-binding transcription factor 1 (SRBP1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P36956UniProtKB/Swiss-Prot:
SRBP1_HUMAN :- The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
- Belongs to the SREBP family.
- Domain:
-
- The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
- Family:
-
- Belongs to the SREBP family.
Function for SREBF1 Gene
Molecular function for SREBF1 Gene
- UniProtKB/Swiss-Prot Function:
- [Sterol regulatory element-binding protein 1]: Precursor of the transcription factor form (Processed sterol regulatory element-binding protein 1), which is embedded in the endoplasmic reticulum membrane (PubMed:32322062). Low sterol concentrations promote processing of this form, releasing the transcription factor form that translocates into the nucleus and activates transcription of genes involved in cholesterol biosynthesis and lipid homeostasis (By similarity).
- UniProtKB/Swiss-Prot Function:
- [Processed sterol regulatory element-binding protein 1]: Key transcription factor that regulates expression of genes involved in cholesterol biosynthesis and lipid homeostasis (PubMed:8402897, PubMed:12177166, PubMed:32322062). 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') (PubMed:8402897, PubMed:12177166). Regulates the promoters of genes involved in cholesterol biosynthesis and the LDL receptor (LDLR) pathway of sterol regulation (PubMed:8402897, PubMed:12177166, PubMed:32322062).
- UniProtKB/Swiss-Prot Function:
- [Isoform SREBP-1A]: Isoform expressed only in select tissues, which has higher transcriptional activity compared to SREBP-1C (By similarity). Able to stimulate both lipogenic and cholesterogenic gene expression (PubMed:12177166). Has a role in the nutritional regulation of fatty acids and triglycerides in lipogenic organs such as the liver (By similarity). Required for innate immune response in macrophages by regulating lipid metabolism (By similarity).
- UniProtKB/Swiss-Prot Function:
- [Isoform SREBP-1C]: Predominant isoform expressed in most tissues, which has weaker transcriptional activity compared to isoform SREBP-1A (By similarity). Primarily controls expression of lipogenic gene (PubMed:12177166). Strongly activates global lipid synthesis in rapidly growing cells (By similarity).
- UniProtKB/Swiss-Prot Function:
- [Isoform SREBP-1aDelta]: The absence of Golgi proteolytic processing requirement makes this isoform constitutively active in transactivation of lipogenic gene promoters.
- UniProtKB/Swiss-Prot Function:
- [Isoform SREBP-1cDelta]: The absence of Golgi proteolytic processing requirement makes this isoform constitutively active in transactivation of lipogenic gene promoters.
- GENATLAS Biochemistry:
- sterol regulatory element binding protein 1,controlling cholesterol homeostasis
Phenotypes From GWAS Catalog for SREBF1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 23610160 |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
| GO:0003677 | DNA binding | ISS | -- |
Phenotypes for SREBF1 Gene
- MGI mutant phenotypes for SREBF1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for SREBF1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability after Maraba virus infection
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in pancreas lineage
- Increased shRNA abundance (Z-score > 2)
- Decreased Salmonella enterica Typhimurium invasion
- Moderately decreased NFAT1-GFP nuclear translocation
Animal Models for SREBF1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SREBF1 - Starting at $85 >
- * SREBF1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SREBF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SREBF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SREBF1
miRNA for SREBF1 Gene
- miRTarBase miRNAs that target SREBF1
-
- hsa-miR-335-5p (MIRT018325)
- hsa-miR-744-5p (MIRT037474)
- hsa-miR-93-3p (MIRT038739)
- hsa-miR-484 (MIRT041670)
- hsa-miR-378a-3p (MIRT043859)
- hsa-miR-185-5p (MIRT045315)
- hsa-miR-10a-5p (MIRT047574)
- hsa-miR-25-3p (MIRT050226)
- hsa-let-7e-5p (MIRT051418)
- hsa-miR-128-3p (MIRT054225)
- hsa-miR-33a-5p (MIRT054666)
- hsa-miR-342-3p (MIRT438066)
- hsa-miR-10b-5p (MIRT439117)
- hsa-let-7c-5p (MIRT439142)
- hsa-miR-4474-3p (MIRT487324)
- hsa-miR-7108-5p (MIRT487325)
- hsa-miR-663b (MIRT487326)
- hsa-miR-4725-3p (MIRT487327)
- hsa-miR-6780b-5p (MIRT487328)
- hsa-miR-4271 (MIRT487329)
- hsa-miR-6883-5p (MIRT487330)
- hsa-miR-6785-5p (MIRT487331)
- hsa-miR-4728-5p (MIRT487332)
- hsa-miR-149-3p (MIRT487333)
- hsa-miR-4743-5p (MIRT487334)
- hsa-miR-671-5p (MIRT487335)
- hsa-miR-6794-5p (MIRT487336)
- hsa-miR-4716-3p (MIRT487337)
- hsa-miR-6783-5p (MIRT487338)
- hsa-miR-4668-5p (MIRT527531)
- hsa-miR-95-5p (MIRT527532)
- hsa-miR-6749-3p (MIRT721591)
- hsa-miR-3156-3p (MIRT721592)
- hsa-miR-4290 (MIRT721593)
- hsa-miR-532-3p (MIRT721594)
- hsa-miR-4286 (MIRT721595)
- hsa-miR-4301 (MIRT721596)
- hsa-miR-483-3p (MIRT721597)
- hsa-miR-7-2-3p (MIRT721598)
- hsa-miR-7-1-3p (MIRT721599)
- hsa-miR-5688 (MIRT721600)
- hsa-miR-495-3p (MIRT721601)
- rno-miR-19b-3p (MIRT734153)
- rno-miR-103-3p (MIRT735276)
- rno-miR-107-3p (MIRT735277)
- hsa-miR-3177-3p (MIRT740706)
- hsa-miR-342-5p (MIRT741411)
- hsa-miR-4524a-3p (MIRT745859)
- hsa-miR-4524b-3p (MIRT745894)
- hsa-miR-4663 (MIRT746718)
- hsa-miR-4664-5p (MIRT746746)
- hsa-miR-4796-3p (MIRT748976)
- hsa-miR-520g-3p (MIRT750255)
- hsa-miR-520h (MIRT750265)
- hsa-miR-6069 (MIRT751669)
- hsa-miR-6782-5p (MIRT755717)
- hsa-miR-7160-5p (MIRT759329)
- hsa-miR-8077 (MIRT760144)
Transcription Factor Targets for SREBF1 Gene
Targeted motifs for SREBF1 Gene
HOMER Transcription Factor Regulatory Elements motif SREBF1
- Consensus sequence: ATCACCCCAT Submotif: canonical Cell Type: HepG2 GEO ID: GSE31477
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SREBF1
- Browse OriGene Inhibitory RNA Products For SREBF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SREBF1
Clone products for research
- Applied Biological Materials (abm): Clones for SREBF1 - Starting at $45 >
- * SREBF1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG211688
- MR211688
- MR211688L3
- MR211688L4
- RC208404
- RC208404L1
- RC208404L2
- RC208404L3
- RC208404L4
- RC209183
- RC209183L1
- RC209183L2
- RC209183L3
- RC209183L4
- RG208404
- RG209183
- RR217481
- RR217493
- MR211688L3V
- MR211688L4V
- RC208404L1V
- RC208404L2V
- RC208404L3V
- RC208404L4V
- RC209183L1V
- RC209183L2V
- RC209183L3V
- RC209183L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SREBF1
- Addgene plasmids for SREBF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SREBF1
Cell Lines for research
-
Horizon Cell Lines for SREBF1
No data available for Enzyme Numbers (IUBMB) for SREBF1 Gene
Localization for SREBF1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SREBF1 Gene
- [Sterol regulatory element-binding protein 1]: 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=At high sterol concentrations, the SCAP-SREBP is retained in the endoplasmic reticulum. Low sterol concentrations promote recruitment into COPII-coated vesicles and transport of the SCAP-SREBP to the Golgi, where it is processed. {ECO:0000250 UniProtKB:Q9WTN3}.
- [Processed sterol regulatory element-binding protein 1]: Nucleus.
- [Isoform SREBP-1aDelta]: Nucleus.
- [Isoform SREBP-1cDelta]: Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| plasma membrane | 3 |
| extracellular | 3 |
| mitochondrion | 3 |
| peroxisome | 3 |
| cytoskeleton | 2 |
| endosome | 2 |
| lysosome | 2 |
- Nucleoplasm (3)
- Cytosol (2)
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0000785 | chromatin | ISA | -- |
| GO:0005634 | nucleus | TAS,IDA | 15358760 |
| GO:0005635 | nuclear envelope | TAS | 8156598 |
| GO:0005654 | nucleoplasm | TAS | -- |
Pathways & Interactions for SREBF1 Gene
Pathways by source for SREBF1 Gene
1 Sino Biological pathway for SREBF1 Gene
10 BioSystems pathways for SREBF1 Gene
11 Reactome pathways for SREBF1 Gene
1 PharmGKB pathway for SREBF1 Gene
4 KEGG pathways for SREBF1 Gene
1 Qiagen pathway for SREBF1 Gene
- SREBP Proteolysis
1 Cell Signaling Technology pathway for SREBF1 Gene
Interacting Proteins for SREBF1 Gene
Selected Interacting proteins:
P36956-SRBP1_HUMAN
ENSP00000348069
for SREBF1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SREBF1
SIGNOR curated interactions for SREBF1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0003062 | regulation of heart rate by chemical signal | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | TAS,IBA | 21873635 |
| GO:0006629 | lipid metabolic process | TAS | 8156598 |
Drugs & Compounds for SREBF1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Docosahexaenoic acid | Approved, Investigational | Pharma | Target, inhibitor | 0 | ||
| Omega-3-acid ethyl esters | Approved, Investigational | Pharma | Target, inhibitor | 0 | ||
| Fish oil | Approved | Nutra | Target, regulator | 0 | ||
| Omega-3 fatty acids | Approved | Nutra | Target, inhibitor | 0 | ||
| Fluvastatin | Approved | Pharma | HMGCR inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for SREBF1 Gene
mRNA/cDNA for SREBF1 Gene
- 13 REFSEQ mRNAs :
- 22 NCBI additional mRNA sequence :
- 24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000261646 4904 nts (view in UCSC)
- ENST00000355815 4253 nts (view in UCSC)
- ENST00000395751 4653 nts (view in UCSC)
- ENST00000395756 3026 nts (view in UCSC)
- ENST00000395757 3800 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SREBF1 - Starting at $85 >
- * SREBF1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SREBF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SREBF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SREBF1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SREBF1
- Browse OriGene Inhibitory RNA Products For SREBF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SREBF1
Clone products for research
- Applied Biological Materials (abm): Clones for SREBF1 - Starting at $45 >
- * SREBF1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG211688
- MR211688
- MR211688L3
- MR211688L4
- RC208404
- RC208404L1
- RC208404L2
- RC208404L3
- RC208404L4
- RC209183
- RC209183L1
- RC209183L2
- RC209183L3
- RC209183L4
- RG208404
- RG209183
- RR217481
- RR217493
- MR211688L3V
- MR211688L4V
- RC208404L1V
- RC208404L2V
- RC208404L3V
- RC208404L4V
- RC209183L1V
- RC209183L2V
- RC209183L3V
- RC209183L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SREBF1
- Addgene plasmids for SREBF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SREBF1
| 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
Expression for SREBF1 Gene
mRNA differential expression in normal tissues according to GTEx for SREBF1 Gene
This gene is overexpressed in Adrenal Gland (x6.5).
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, MaxQB, and MOPED for SREBF1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SREBF1
SOURCE GeneReport for Unigene cluster for SREBF1 Gene:
Hs.592123mRNA 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 (PubMed:8402897). In fetal tissues lung and liver shows highest expression (PubMed:8402897).
Evidence on tissue expression from TISSUES for SREBF1 Gene
- Nervous system(5)
- Liver(4.8)
- Spleen(4.5)
- Intestine(3.7)
- Pancreas(3.7)
- Blood(3.4)
- Muscle(3.2)
- Adrenal gland(3.1)
- Skin(3)
- Kidney(3)
- Eye(2.9)
- Heart(2.9)
- Thyroid gland(2.7)
- Stomach(2.7)
- Bone marrow(2.7)
- Gall bladder(2.6)
- Lung(2.5)
- Lymph node(2.4)
Primer products for research
-
OriGene qPCR primer pairs for SREBF1
-
OriGene qPCR primer pairs and template standards for SREBF1
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for SREBF1 Gene
Orthologs for SREBF1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SREBF1 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | SREBF1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SREBF1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Srebf1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Srebf1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SREBF1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SREBF1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SREBF1 30 |
|
||
| SREBP-1 31 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | SREBF1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | srebf1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.12057 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | srebf1 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000076 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | HLH106 30 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | sbp-1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9273 31 |
|
OneToMany |
- Species where no ortholog for SREBF1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for SREBF1: view image
Paralogs for SREBF1 Gene
(3) SIMAP similar genes for SREBF1 Gene using alignment to 9 proteins:
- SRBP1_HUMAN
- B5MD58_HUMAN
- F6V242_HUMAN
- J3QLB6_HUMAN
- K7EIW8_HUMAN
- K7EKR7_HUMAN
- K7EMD1_HUMAN
- K7EMT8_HUMAN
- S4R3B4_HUMAN
Variants for SREBF1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SREBF1 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 932243 | Pathogenic: IFAP syndrome with or without BRESHECK syndrome; Hereditary mucoepithelial dysplasia; IFAP syndrome 2 | 17,817,283(-) |
G/A NM_001005291.3(SREBF1):c.1669C>T (p.Arg557Cys) |
MISSENSE | |
| 932244 | Pathogenic: IFAP syndrome with or without BRESHECK syndrome; IFAP syndrome 2 | 17,817,277(-) |
CGTT/C NM_001005291.3(SREBF1):c.1672_1674del (p.Asn558del) |
INFRAME_DELETION | |
| 932245 | Pathogenic: IFAP syndrome with or without BRESHECK syndrome; IFAP syndrome 2 | 17,817,273(-) |
A/G NM_001005291.3(SREBF1):c.1679T>C (p.Leu560Pro) |
MISSENSE | |
| 981495 | Pathogenic: Hereditary mucoepithelial dysplasia | 17,817,282(-) |
C/T NM_004176.5(SREBF1):c.1580G>A (p.Arg527His) |
MISSENSE | |
| rs114001633 | Likely Benign: not provided | 17,819,659(-) |
G/A NM_001005291.3(SREBF1):c.680C>T (p.Pro227Leu) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2659754 | CNV | deletion | 23128226 |
| nsv1120111 | OTHER | inversion | 24896259 |
| nsv155 | OTHER | inversion | 15895083 |
| nsv499114 | OTHER | inversion | 21111241 |
| nsv513466 | CNV | insertion | 21212237 |
| nsv522668 | CNV | loss | 19592680 |
| nsv526904 | CNV | loss | 19592680 |
| nsv817753 | CNV | loss | 17921354 |
| nsv820244 | CNV | loss | 19587683 |
| nsv833385 | CNV | loss | 17160897 |
| nsv953838 | CNV | deletion | 24416366 |
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)
Additional Variant Information for SREBF1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SREBF1 Gene
Disorders for SREBF1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ifap syndrome 2 |
|
|
| mucoepithelial dysplasia, hereditary |
|
|
| ifap syndrome 1, with or without bresheck syndrome |
|
|
| ichthyosis follicularis atrichia photophobia syndrome |
|
|
| fatty liver disease |
|
|
Search SREBF1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SREBF1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SREBF1 Gene
Publications for SREBF1 Gene
- 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 ā¦ Hobbs HH (Genomics 1995) 2 3 4 23
- SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene. (PMID: 8402897) Yokoyama C ā¦ Brown MS (Cell 1993) 2 3 4 23
- Polymorphisms in SREBF1 and SREBF2, two antipsychotic-activated transcription factors controlling cellular lipogenesis, are associated with schizophrenia in German and Scandinavian samples. (PMID: 18936756) Le Hellard S ā¦ Steen VM (Molecular psychiatry 2010) 3 23 41
- Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk. (PMID: 19252981) Campa D ā¦ Kaaks R (Breast cancer research and treatment 2009) 3 23 41
- 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. (PMID: 19062325) Choukem SP ā¦ Gautier JF (Diabetes & metabolism 2009) 3 23 41
ExternalLinks
Products for SREBF1 Gene
- Custom Antibody ServicesOriGene Antibodies for SREBF1
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- Custom Assay Services
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- Browse OriGene Inhibitory RNA Products For SREBF1
- OriGene qPCR primer pairs for SREBF1
- OriGene qPCR primer pairs and template standards for SREBF1
- OriGene CRISPR knockouts for SREBF1
- MG211688
- MR211688
- MR211688L3
- MR211688L4
- RC208404
- RC208404L1
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- Novus Biologicals Antibodies for SREBF1
- Novus Biologicals proteins and lysates for SREBF1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SREBF1
- Abcam proteins for SREBF1
- Find your target
- Browse Primary Antibodies
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- Browse ELISA Kits
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- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for SREBF1 (AFLGC-SREBF1)
- VectorBuilder Custom and pre-made DNA vectors for SREBF1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SREBF1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SREBF1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SREBF1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SREBF1
- Addgene plasmids for SREBF1
- antibodies-online: Show 51 available SREBF1 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for SREBF1
- Search Santa Cruz Biotechnology (SCBT) for SREBF1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SREBF1
- Custom Antibody ServicesProSci Antibodies for SREBF1
- Search for SREBF1 Proteins at ProSci
- Horizon Cell Lines for SREBF1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SREBF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SREBF1
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- Boster Bio Antibodies for SREBF1
Sources for SREBF1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7)