SREBF1 Gene
protein-coding GIFtS: 66
GCID: GC17M017714
|
|
sterol regulatory element binding transcription factor 1
| |
Aliases for SREBF1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Sterol Regulatory Element Binding Transcription Factor 11 2 | | SREBP-12 3 | | SREBP11 2 3 | | Sterol Regulatory Element-Binding Protein 12 | | BHLHd11 | | BHLHD13 | | SREBP-1c1 2 | | Sterol Regulatory Element-Binding Transcription Factor 13 | | Class D Basic Helix-Loop-Helix Protein 12 3 | | |
Export aliases for SREBF1 gene to outside databasesPrevious GC identifers: GC17M018030 GC17M019087 GC17M017657 GC17M017915 GC17M017655 GC17M017466 |
Summaries for SREBF1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for SREBF1: This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamerflanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein issynthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, themature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit thecleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. Theprotein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene islocated within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoformshave been found for this gene. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: SRBP1_HUMAN, P36956Function: Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene aswell as the fatty acid and to a lesser degree the cholesterol synthesis pathway (By similarity). Binds to the sterolregulatory 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
|
Genomic Views for SREBF1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010718.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SREBF1 gene promoter: PPAR-gamma1 STAT3 PPAR-gamma2 STAT5A Other transcription factors
Search SABiosciences Chromatin IP Primers for SREBF1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SREBF1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17p11.2 Ensembl cytogenetic band: 17p11.2 HGNC cytogenetic band: 17p11.2SREBF1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M017714: view genomic region
(about GC identifiers)
Start:
|
17,713,713 bp from pter |
End:
|
17,740,325 bp from pter |
Size:
|
26,613 bases |
Orientation:
|
minus strand |
|
Proteins for SREBF1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: SRBP1_HUMAN, P36956 (See
protein sequence)Recommended Name: Sterol regulatory element-binding protein 1 Size: 1147 amino acids; 121675 Da
Subunit: Forms a tight complex with SCAP in the ER membrane. Efficient DNA binding of the soluble transcription factorfragment requires dimerization with another bHLH protein. Interacts with LMNA
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-passmembrane protein. Cytoplasmic vesicle, COPII-coated vesicle membrane; Multi-pass membrane protein. Note=Moves from theendoplasmic reticulum to the Golgi in the absence of sterols
Subcellular location: Processed sterol regulatory element-binding protein 1: Nucleus
Sequence caution: Sequence=AAB28522.2; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAD92846.1; Type=Miscellaneous discrepancy; Note=Intron retention;
1 PDB 3D structure from and Proteopedia for SREBF1:1AM9 (3D)
 
Secondary accessions: D3DXC4 Q16062 Q59F52 Q6P4R7 Q6PFW7 Q6PJ36 Q8TAK9Alternative splicing: 4 isoforms: P36956-1 P36956-2 P36956-3 P36956-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for SREBF1: NX_P36956
Post-translational modifications:
At low cholesterol the SCAP/SREBP complex is recruited into COPII vesicles for export from the ER. In the Golgi complexSREBPs are cleaved sequentially by site-1 and site-2 protease. The first cleavage by site-1 protease occurs within theluminal loop, the second cleavage by site-2 protease occurs within the first transmembrane domain and releases thetranscription factor from the Golgi membrane. Apoptosis triggers cleavage by the cysteine proteases caspase-3 andcaspase-71
Phosphorylated by AMPK, leading to suppress protein processing and nuclear translocation, and repress target geneexpression. Phosphorylation at Ser-402 by SIK1 represses activity possibly by inhibiting DNA-binding (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P36956 SREBF1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001005291.1 NP_004167.3 ENSEMBL proteins: ENSP00000466643 ENSP00000465747 ENSP00000379106 ENSP00000379100 ENSP00000348069 ENSP00000261646 ENSP00000466453 ENSP00000464923 ENSP00000403367 ENSP00000462343 ENSP00000411516 ENSP00000463474 ENSP00000345822 ENSP00000413389 Reactome Protein details: P36956 Human Recombinant Protein Products:
Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table
SREBF1 for ontologies About GeneDecksing
SREBF1 Antibody Products: Assay Products for SREBF1: |
Protein
Domains / Families for SREBF1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SREBF1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P36956ProtoNet protein and cluster: P36956 1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH
UniProtKB/Swiss-Prot: SRBP1_HUMAN, P36956Similarity: Belongs to the SREBP familySimilarity: Contains 1 bHLH (basic helix-loop-helix) domain |
Function for SREBF1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: SRBP1_HUMAN, P36956Function: Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene aswell as the fatty acid and to a lesser degree the cholesterol synthesis pathway (By similarity). Binds to the sterolregulatory 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') Genatlas biochemistry entry for SREBF1:sterol regulatory element binding protein 1,controlling cholesterol homeostasis
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SREBF1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SREBF1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SREBF1 (NM_001005291) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SREBF1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SREBF1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SREBF1 |
Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table
SREBF1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for SREBF1: Animal Models: Mouse knock-outs for SREBF1: Srebf1tm2Jdh Srebf1tm1Jdh 3 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Srebf1):
SREBF1 for phenotypes About GeneDecksing
|
Pathways & Interactions for SREBF1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/20 super-pathways (see all 20) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Expression of Mevalonate Kinase (MVK) | | | 2 | Expression of Lathosterol Oxidase (SC5D, SC5DL) | | | 3 | Expression of ELOVL6 | | | 4 | Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | | | 5 | SREBP1A/1C/2 is retained in the endoplasmic reticulum by SCAP:cholesterol:INSIG | |
Pathway sources See GeneCards unified pathways Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SREBF1 1
Cell Signaling Technology (CST) Pathway for SREBF1 5/6 BioSystems Pathways for SREBF1 (see all 6) 
5/36
Reactome Pathways for SREBF1 (see all 36) 1 PharmGKB Pathway for SREBF1 1
Kegg Pathway (Kegg details for SREBF1):
SREBF1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SREBF1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/79 Interacting proteins for SREBF1 (P369561, 2, 3 ENSP000003480694) via UniProtKB, MINT, STRING, and/or I2D (see all 79)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| ATXN1 | P542532, 3, ENSP000002447694 | MINT-2863379 MINT-2863360 I2D:
score=3 STRING: ENSP00000244769 | | MED15 | Q96RN51, 3, ENSP000002632054 | EBI-948328,EBI-394506 I2D:
score=1 STRING: ENSP00000263205 | | SIRT1 | Q96EB61, 3, ENSP000002120154 | EBI-948338,EBI-1802965 I2D:
score=1 STRING: ENSP00000212015 | | MAPK1 | P284823, ENSP000002158324 | I2D:
score=4 STRING: ENSP00000215832 | | MAPK3 | P273613, ENSP000002630254 | I2D:
score=4 STRING: ENSP00000263025 | About this table
Gene Ontology (GO): 5/32 biological process terms (GO ID links to tree view) (see all 32): About this table | 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-dependent |
IEA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
-- | -- | | GO:0006357 | regulation of transcription from RNA polymerase II promoter |
TAS | 8156598 |
SREBF1 for ontologies About GeneDecksing
|
Drugs & Compounds for SREBF1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SREBF1 for compounds About GeneDecksing
Browse Tocris compounds for SREBF1 10/43 Novoseek chemical compound relationships for SREBF1 gene (see all 43) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| sterol |
95.6 |
197 |
9478955 (4), 18192539 (3), 11590226 (3), 8060328 (2) (see all 99) |
| fatty acid |
79.9 |
66 |
18774944 (2), 12213216 (2), 20017192 (2), 11082286 (2) (see all 53) |
| 25-hydroxycholesterol |
78 |
7 |
17624300 (1), 14704295 (1), 18854425 (1), 9478955 (1) (see all 5) |
| cholesterol |
72.9 |
85 |
18071061 (5), 9478955 (3), 15123650 (2), 18635549 (2) (see all 52) |
| 3-hydroxy-3-methylglutaryl-coa |
72.4 |
4 |
7862668 (1), 19389950 (1), 7759101 (1) |
| n-acetylleucylleucylnorleucinal |
71.2 |
7 |
8060328 (1), 17376415 (1) |
| lipid |
71 |
62 |
19048273 (6), 17331464 (2), 20071336 (2), 18239056 (2) (see all 42) |
| acetyl-coa |
69 |
6 |
12213084 (2), 17449569 (1), 19238155 (1), 17381980 (1) (see all 5) |
| squalene |
62.3 |
2 |
10946023 (1) |
| farnesyl diphosphate |
58.1 |
6 |
8798690 (3), 17172644 (1) |
Search CenterWatch for drugs/clinical trials and news about SREBF1 / SRBP1 
|
Transcripts for SREBF1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for SREBF1 gene (2 alternative transcripts): NM_001005291.2 NM_004176.4 Unigene Cluster for SREBF1: Sterol regulatory element binding transcription factor 1 Hs.592123 [show with all ESTs]Unigene Representative Sequence: NM_00100529118/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25): ENST00000485080 ENST00000578469(uc002gro.4) ENST00000395756(uc002grp.2) ENST00000395757 ENST00000395751(uc002grq.2 uc002grr.2) ENST00000355815(uc002grs.2 uc002grt.2 uc010cpp.1) ENST00000261646(uc002gru.2) ENST00000486311 ENST00000478616 ENST00000447641 ENST00000581707 ENST00000490796 ENST00000584760 ENST00000471445 ENST00000469356 ENST00000580540 ENST00000583080 ENST00000487401
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SREBF1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SREBF1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): SREBF1 (NM_001005291) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SREBF1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SREBF1  |
Additional cDNA sequence: AB209609.1 AB373958.1 AB373959.1 AK091131.1 AK095325.1 AK128320.1 AK293795.1 AK294800.1 AK297113.1 BC023621.2 BC026962.1 BC057388.1 BC063281.1 S66168.1 U00968.1 24/32 DOTS entries (see all 32): DT.100777285 DT.91770572 DT.101984802 DT.100777283 DT.95250532 DT.101984801 DT.91661408 DT.120990317 DT.75146072 DT.91867144 DT.120990380 DT.75143726 DT.100751743 DT.97851985 DT.95196941 DT.95250530 DT.99996130 DT.120990250 DT.120990440 DT.40105827 DT.95250517 DT.120990247 DT.120990298 DT.120990308 24/351 AceView cDNA sequences (see all 351): BC057388 BM719165 CR616334 BU726792 BM830205 BG164517 BM681283 AI918878 BU078628 BQ895949 AI081140 BM744407 BM705822 BM743932 AU132043 BM751842 AK091131 CD723106 BM129014 BM756848 CD672007 BE304782 CA416842 BM773234 GeneLoc Exon Structure
5/21 Alternative Splicing Database (ASD) splice patterns (SP) for SREBF1 (see all 21) About this scheme
| 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: | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   |
| 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: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for SREBF1
|
Expression for SREBF1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SREBF1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: ATGGTGCTGA
About this image See SREBF1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SREBF1
SOURCE GeneReport for Unigene cluster: Hs.592123 UniProtKB/Swiss-Prot: SRBP1_HUMAN, P36956Tissue specificity: Expressed in a wide variety of tissues, most abundant in liver and adrenal gland. In fetal tissueslung and liver shows highest expression. Isoform SREBP-1C predominates in liver, adrenal gland and ovary, whereasisoform SREBP-1A predominates in hepatoma cell lines. Isoform SREBP-1A and isoform SREBP-1C are found in kidney,brain, white fat, and muscle SABiosciences Expression via Pathway-Focused PCR Arrays including SREBF1 (see all 11):
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SREBF1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SREBF1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SREBF1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SREBF1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SREBF1 |
Orthologs for SREBF1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for SREBF1 gene from 6/20 species (see all 20) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
SREBF11 |
sterol regulatory element binding transcription factor more |
69.28(n) 65.66(a) |
  |
373915 NM_204126.1 NP_989457.1 |
lizard (Anolis carolinensis) |
Reptilia |
SREBF16 |
-- |
64(a) |
1 ↔ 1 |
GL343500.1(2507-24177) |
African clawed frog (Xenopus laevis) |
Amphibia |
Xl.120572 |
Xenopus laevis transcribed sequence with weak similarity more |
77.37(n) |
  |
CB207279.1 |
zebrafish (Danio rerio) |
Actinopterygii |
srebf11 |
sterol regulatory element binding transcription factor more |
62.56(n) 61.75(a) |
  |
793274 NM_001105129.1 NP_001098599.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
HLH1061 , 3 |
transcription factor3 Helix loop helix protein 1061 |
34(a)3 47.19(n)1 36.32(a)1 |
  |
76C53 401551 NM_079442.21 NP_524166.21 |
worm (Caenorhabditis elegans) |
Secernentea |
sbp-11 |
Protein SBP-1 |
38.15(n) 27.08(a) |
  |
176574 NM_067071.4 NP_499472.1 |
ENSEMBL Gene Tree for SREBF1 (if available) TreeFam Gene Tree for SREBF1 (if available)  |
Paralogs for SREBF1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for SREBF1 gene
- SREBF22
5 SIMAP similar genes for SREBF1 using alignment to 10 protein entries: SRBP1_HUMAN (see all proteins):SREBP-1a (delta) SREBP-1c (delta) DKFZp434N1610 MAX SREBF2
SREBF1 for paralogs About GeneDecksing
|
Genomic Variants for SREBF1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 17 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for SREBF1 (17713713 - 17740325 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for SREBF1 1 CNV: 10512 1 Indel: 58785 1 Inversion: 0495 Human Gene Mutation Database (HGMD): SREBF1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SREBF1 |
|
Disorders
/ Diseases for SREBF1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SREBF1 for disorders About GeneDecksing
OMIM gene information: 184756
OMIM disorders: --
20/57 diseases for SREBF1 (see all 57): About MalaCardssmith-magenis syndrome amyotrophic lateral sclerosis (als) amyotrophic lateral sclerosis congenital generalized lipodystrophy pre-eclampsia traumatic brain injury type 2 diabetes mellitus lateral sclerosis brain injury insulin resistance lipodystrophy metabolic disorders fatty liver disease coronary heart disease diabetes mellitus morbid obesity gestational diabetes hyperlipidemia hypercholesterolemia hyperinsulinism
6 diseases from the University of Copenhagen DISEASES database for SREBF1:Fatty liver disease Diabetes mellitus Lipodystrophy Hyperglycemia Hyperinsulinism Atherosclerosis 10/17 Novoseek disease relationships for SREBF1 gene (see all 17) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| lipodystrophy |
66.9 |
2 |
20074077 (1) |
| fatty liver |
62.6 |
11 |
18071061 (2), 19032584 (2), 18627005 (1), 17484888 (1) (see all 5) |
| insulin resistance |
50.3 |
5 |
15102555 (1), 16429400 (1), 18192539 (1), 19223519 (1) (see all 5) |
| hyperinsulinemia |
39.3 |
7 |
11916923 (2), 15187085 (1), 14514640 (1), 16831124 (1) |
| obesity |
37.4 |
7 |
15277400 (3), 16005884 (1), 11916923 (1), 19292868 (1) (see all 5) |
| hyperlipidemia |
36.3 |
2 |
17666524 (2) |
| hypercholesterolemia |
34.3 |
3 |
17666524 (2), 16005884 (1) |
| dyslipidemia |
33.6 |
2 |
15277400 (2) |
| atherosclerosis |
30.4 |
1 |
19292868 (1) |
| carcinoma |
4.55 |
1 |
12213216 (1) |
Genetic Association Database (GAD): SREBF1 Human Genome Epidemiology (HuGE) Navigator: SREBF1 (39 documents) Export disorders for SREBF1 gene to outside databases
|
Publications for SREBF1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SREBF1 gene, integrated from 9 sources (see all 426): (articles sorted by number of sources associating them with SREBF1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- 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. (PubMed id 7759101)1, 2, 3, 9 Hua X....Hobbs H.H. (1995)
- SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene. (PubMed id 8402897)1, 2, 3, 9 Yokoyama C.... Brown M.S. (1993)
- Genetic variant of the SREBF-1 gene is significantly related to cholesterol synthesis in man. (PubMed id 16005884)1, 4, 9 Laaksonen R....Lehtimaki T. (2006)
- SREBF-1 gene polymorphisms are associated with obesity and type 2 diabetes in French obese and diabetic cohorts. (PubMed id 15277400)1, 4, 9 Eberle D....Foufelle F. (2004)
- Regulated cleavage of sterol regulatory element binding proteins requires sequences on both sides of the endoplasmic reticulum membrane. (PubMed id 8626610)1, 2, 9 Hua X.... Goldstein J.L. (1996)
- Determinants of variable response to simvastatin treatment: the role of common variants of SCAP, SREBF-1a and SREBF-2 genes. (PubMed id 16158080)1, 4 Fiegenbaum M....Hutz M.H. (2005)
- Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes. (PubMed id 14988272)1, 4 Laudes M....O'Rahilly S. (2004)
- SREBP-1a polymorphism influences the risk of Alzheimer's disease in carriers of the ApoE4 allele. (PubMed id 15286454)1, 4 Spell C....Heun R. (2004)
- Interaction between SREBP-1a and APOB polymorphisms influences total and low-density lipoprotein cholesterol levels in patients with coronary artery disease. (PubMed id 12752570)1, 4 Rios D.L....Hutz M.H. (2003)
- Effects of SREBF-1a and SCAP polymorphisms on plasma levels of lipids, severity, progression and regression of coronary atherosclerosis and response to therapy with fluvastatin. (PubMed id 12436350)1, 4 Salek L....Marian A.J. (2002)
|
External Searches for SREBF1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SREBF1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SREBF1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SREBF1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
|
About This Section
| Patent Information for SREBF1 gene: Search GeneIP for patents involving SREBF1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for SREBF1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
| | | | OriGene Antibodies for SREBF1 | | OriGene shRNA RFP for SREBF1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SREBF1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SREBF1 | | OriGene Protein Over-expression Lysate for SREBF1 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for SREBF1 | | OriGene 3'-UTR Clone for SREBF1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SREBF1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SREBF1 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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