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SREBF1 (sterol regulatory element binding transcription factor 1)

Identity

Alias_symbol (synonym)SREBP1
bHLHd1
SREBP-1c
SREBP1a
Other alias
HGNC (Hugo) SREBF1
LocusID (NCBI) 6720
Atlas_Id 42386
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 17811349 and ends at 17837011 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NCSTN (1q23.2) / SREBF1 (17p11.2)RAI1 (17p11.2) / SREBF1 (17p11.2)SREBF1 (17p11.2) / C12orf10 (12q13.13)
SREBF1 (17p11.2) / DRC3 (17p11.2)SREBF1 (17p11.2) / PTPRF (1p34.2)SREBF1 (17p11.2) / STAT3 (17q21.2)
SREBF1 (17p11.2) / TOM1L2 (17p11.2)ST7 (7q31.2) / SREBF1 (17p11.2)UBE2E3 (2q31.3) / SREBF1 (17p11.2)
NCSTN 1q23.2 / SREBF1 17p11.2SREBF1 17p11.2 / LRRC48 17p11.2SREBF1 17p11.2 / STAT3 17q21.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SREBF1   11289
Cards
Entrez_Gene (NCBI)SREBF1  6720  sterol regulatory element binding transcription factor 1
AliasesSREBP-1c; SREBP1; SREBP1a; bHLHd1
GeneCards (Weizmann)SREBF1
Ensembl hg19 (Hinxton)ENSG00000072310 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000072310 [Gene_View]  chr17:17811349-17837011 [Contig_View]  SREBF1 [Vega]
ICGC DataPortalENSG00000072310
TCGA cBioPortalSREBF1
AceView (NCBI)SREBF1
Genatlas (Paris)SREBF1
WikiGenes6720
SOURCE (Princeton)SREBF1
Genetics Home Reference (NIH)SREBF1
Genomic and cartography
GoldenPath hg38 (UCSC)SREBF1  -     chr17:17811349-17837011 -  17p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SREBF1  -     17p11.2   [Description]    (hg19-Feb_2009)
EnsemblSREBF1 - 17p11.2 [CytoView hg19]  SREBF1 - 17p11.2 [CytoView hg38]
Mapping of homologs : NCBISREBF1 [Mapview hg19]  SREBF1 [Mapview hg38]
OMIM184756   
Gene and transcription
Genbank (Entrez)AB209609 AB373958 AB373959 AH004383 AH004383
RefSeq transcript (Entrez)NM_001005291 NM_001321096 NM_004176
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SREBF1
Cluster EST : UnigeneHs.733635 [ NCBI ]
CGAP (NCI)Hs.733635
Alternative Splicing GalleryENSG00000072310
Gene ExpressionSREBF1 [ NCBI-GEO ]   SREBF1 [ EBI - ARRAY_EXPRESS ]   SREBF1 [ SEEK ]   SREBF1 [ MEM ]
Gene Expression Viewer (FireBrowse)SREBF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6720
GTEX Portal (Tissue expression)SREBF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP36956   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP36956  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP36956
Splice isoforms : SwissVarP36956
PhosPhoSitePlusP36956
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)SREBF1
DMDM Disease mutations6720
Blocks (Seattle)SREBF1
PDB (SRS)1AM9   
PDB (PDBSum)1AM9   
PDB (IMB)1AM9   
PDB (RSDB)1AM9   
Structural Biology KnowledgeBase1AM9   
SCOP (Structural Classification of Proteins)1AM9   
CATH (Classification of proteins structures)1AM9   
SuperfamilyP36956
Human Protein AtlasENSG00000072310
Peptide AtlasP36956
HPRD01701
IPIIPI00418428   IPI00419318   IPI00220878   IPI00795043   IPI01011320   IPI01018830   IPI01015741   IPI00796121   IPI00796977   IPI00797516   
Protein Interaction databases
DIP (DOE-UCLA)P36956
IntAct (EBI)P36956
FunCoupENSG00000072310
BioGRIDSREBF1
STRING (EMBL)SREBF1
ZODIACSREBF1
Ontologies - Pathways
QuickGOP36956
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  Golgi membrane  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  regulation of heart rate by chemical signal  DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  protein binding  nucleus  nuclear envelope  nucleoplasm  cytoplasm  endoplasmic reticulum membrane  cytosol  regulation of transcription from RNA polymerase II promoter  lipid metabolic process  aging  circadian rhythm  cholesterol metabolic process  insulin receptor signaling pathway  lipid biosynthetic process  cellular response to starvation  response to glucose  positive regulation of triglyceride biosynthetic process  ER to Golgi transport vesicle membrane  integral component of membrane  regulation of fatty acid metabolic process  protein kinase binding  lung development  intracellular receptor signaling pathway  positive regulation of histone deacetylation  regulation of protein stability  response to food  protein complex binding  response to retinoic acid  response to progesterone  sterol response element binding  response to glucagon  response to drug  mRNA transcription from RNA polymerase II promoter  protein complex  fat cell differentiation  positive regulation of cholesterol biosynthetic process  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  negative regulation of insulin secretion  protein dimerization activity  response to cAMP  cellular response to fatty acid  regulation of mitophagy  regulation of protein targeting to mitochondrion  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  Golgi membrane  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  regulation of heart rate by chemical signal  DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  protein binding  nucleus  nuclear envelope  nucleoplasm  cytoplasm  endoplasmic reticulum membrane  cytosol  regulation of transcription from RNA polymerase II promoter  lipid metabolic process  aging  circadian rhythm  cholesterol metabolic process  insulin receptor signaling pathway  lipid biosynthetic process  cellular response to starvation  response to glucose  positive regulation of triglyceride biosynthetic process  ER to Golgi transport vesicle membrane  integral component of membrane  regulation of fatty acid metabolic process  protein kinase binding  lung development  intracellular receptor signaling pathway  positive regulation of histone deacetylation  regulation of protein stability  response to food  protein complex binding  response to retinoic acid  response to progesterone  sterol response element binding  response to glucagon  response to drug  mRNA transcription from RNA polymerase II promoter  protein complex  fat cell differentiation  positive regulation of cholesterol biosynthetic process  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  negative regulation of insulin secretion  protein dimerization activity  response to cAMP  cellular response to fatty acid  regulation of mitophagy  regulation of protein targeting to mitochondrion  
Pathways : BIOCARTASREBP control of lipid synthesis [Genes]   
Pathways : KEGGInsulin signaling pathway    Non-alcoholic fatty liver disease (NAFLD)   
NDEx NetworkSREBF1
Atlas of Cancer Signalling NetworkSREBF1
Wikipedia pathwaysSREBF1
Orthology - Evolution
OrthoDB6720
GeneTree (enSembl)ENSG00000072310
Phylogenetic Trees/Animal Genes : TreeFamSREBF1
HOVERGENP36956
HOGENOMP36956
Homologs : HomoloGeneSREBF1
Homology/Alignments : Family Browser (UCSC)SREBF1
Gene fusions - Rearrangements
Fusion : MitelmanNCSTN/SREBF1 [1q23.2/17p11.2]  [t(1;17)(q23;p11)]  
Fusion : MitelmanSREBF1/LRRC48 [17p11.2/17p11.2]  [t(17;17)(p11;p11)]  
Fusion : MitelmanSREBF1/STAT3 [17p11.2/17q21.2]  [t(17;17)(p11;q21)]  
Fusion: TCGANCSTN 1q23.2 SREBF1 17p11.2 PRAD
Fusion: TCGASREBF1 17p11.2 LRRC48 17p11.2 BRCA
Fusion: TCGASREBF1 17p11.2 STAT3 17q21.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSREBF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SREBF1
dbVarSREBF1
ClinVarSREBF1
1000_GenomesSREBF1 
Exome Variant ServerSREBF1
ExAC (Exome Aggregation Consortium)SREBF1 (select the gene name)
Genetic variants : HAPMAP6720
Genomic Variants (DGV)SREBF1 [DGVbeta]
DECIPHERSREBF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSREBF1 
Mutations
ICGC Data PortalSREBF1 
TCGA Data PortalSREBF1 
Broad Tumor PortalSREBF1
OASIS PortalSREBF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSREBF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSREBF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SREBF1
DgiDB (Drug Gene Interaction Database)SREBF1
DoCM (Curated mutations)SREBF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SREBF1 (select a term)
intoGenSREBF1
Cancer3DSREBF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM184756   
Orphanet
MedgenSREBF1
Genetic Testing Registry SREBF1
NextProtP36956 [Medical]
TSGene6720
GENETestsSREBF1
Target ValidationSREBF1
Huge Navigator SREBF1 [HugePedia]
snp3D : Map Gene to Disease6720
BioCentury BCIQSREBF1
ClinGenSREBF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6720
Chemical/Pharm GKB GenePA335
Clinical trialSREBF1
Miscellaneous
canSAR (ICR)SREBF1 (select the gene name)
Probes
Litterature
PubMed304 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSREBF1
EVEXSREBF1
GoPubMedSREBF1
iHOPSREBF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:08:28 CEST 2017

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