Gene Gene information from NCBI Gene database.
Entrez ID 6720
Gene name Sterol regulatory element binding transcription factor 1
Gene symbol SREBF1
Synonyms (NCBI Gene)
HMDIFAP2SREBP1bHLHd1
Chromosome 17
Chromosome location 17p11.2
Summary 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 inv
miRNA miRNA information provided by mirtarbase database.
333
miRTarBase ID miRNA Experiments Reference
MIRT018325 hsa-miR-335-5p Microarray 18185580
MIRT051418 hsa-let-7e-5p CLASH 23622248
MIRT050226 hsa-miR-25-3p CLASH 23622248
MIRT047574 hsa-miR-10a-5p CLASH 23622248
MIRT045315 hsa-miR-185-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SP1 Activation 20179320
SP1 Unknown 15462672
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
108
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 23610160
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
184756 11289 ENSG00000072310
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P36956
Protein name Sterol regulatory element-binding protein 1 (SREBP-1) (Class D basic helix-loop-helix protein 1) (bHLHd1) (Sterol regulatory element-binding transcription factor 1) [Cleaved into: Processed sterol regulatory element-binding protein 1 (Transcription factor
Protein 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 concentratio
PDB 1AM9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 324 374 Helix-loop-helix DNA-binding domain Domain
Tissue specificity 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). {ECO:0000269|PubMed:8402897}.; TISSUE SPECIFICITY: [Isoform S
Sequence
MDEPPFSEAALEQALGEPCDLDAALLTDIEDMLQLINNQDSDFPGLFDPPYAGSGAGGTD
PASPDTSSPGSLSPPPATLSSSLEAFLSGPQAAPSPLSPPQPAPTPLKMYPSMPAFSPGP
GIKEESVPLSILQTPTPQPLPGALLPQSFPAPAPPQFSSTPVLGYPSPPGGFSTGSPPGN
TQQPLPGLPLASPPGVPPVSLHTQVQSVVPQQLLTVTAAPTAAPVTTTVTSQIQQVPVLL
QPHFIKADSLLLTAMKTDGATVKAAGLSPLVSGTTVQTGPLPTLVSGGTILATVPLVVDA
EKLPINRLAAGSKAPASAQSRGEKRTAHNAIEKRYRSSINDKIIELKDLVVGTEAKLNKS
AVLRKAIDYIRFLQ
HSNQKLKQENLSLRTAVHKSKSLKDLVSACGSGGNTDVLMEGVKTE
VEDTLTPPPSDAGSPFQSSPLSLGSRGSGSGGSGSDSEPDSPVFEDSKAKPEQRPSLHSR
GMLDRSRLALCTLVFLCLSCNPLASLLGARGLPSPSDTTSVYHSPGRNVLGTESRDGPGW
AQWLLPPVVWLLNGLLVLVSLVLLFVYGEPVTRPHSGPAVYFWRHRKQADLDLARGDFAQ
AAQQLWLALRALGRPLPTSHLDLACSLLWNLIRHLLQRLWVGRWLAGRAGGLQQDCALRV
DASASARDAALVYHKLHQLHTMGKHTGGHLTATNLALSALNLAECAGDAVSVATLAEIYV
AAALRVKTSLPRALHFLTRFFLSSARQACLAQSGSVPPAMQWLCHPVGHRFFVDGDWSVL
STPWESLYSLAGNPVDPLAQVTQLFREHLLERALNCVTQPNPSPGSADGDKEFSDALGYL
QLLNSCSDAAGAPAYSFSISSSMATTTGVDPVAKWWASLTAVVIHWLRRDEEAAERLCPL
VEHLPRVLQESERPLPRAALHSFKAARALLGCAKAESGPASLTICEKASGYLQDSLATTP
ASSSIDKAVQLFLCDLLLVVRTSLWRQQQPPAPAPAAQGTSSRPQASALELRGFQRDLSS
LRRLAQSFRPAMRRVFLHEATARLMAGASPTRTHQLLDRSLRRRAGPGGKGGAVAELEPR
PTRREHAEALLLASCYLPPGFLSAPGQRVGMLAEAARTLEKLGDRRLLHDCQQMLMRLGG
GTTVTSS
Sequence length 1147
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
18
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary mucoepithelial dysplasia Likely pathogenic; Pathogenic rs1045239575, rs2033690347, rs1428621525 RCV003990155
RCV001260974
RCV001260975
IFAP syndrome 1, with or without BRESHECK syndrome Pathogenic rs2033690347, rs2033689385, rs2033688284 RCV001263099
RCV001263100
RCV001263101
IFAP syndrome 2 Pathogenic rs2033690347, rs2033689385, rs2033688284 RCV001255643
RCV001255644
RCV001255645
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Uncertain significance rs371518920 RCV005939230
Obesity Conflicting classifications of pathogenicity rs201090006 RCV003223519
Ovarian serous cystadenocarcinoma Uncertain significance rs147603937, rs142115026 RCV005929052
RCV005939231
SREBF1-related disorder Uncertain significance rs766119997 RCV003419072
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 31490983
Atherosclerosis Associate 19292868, 23717417, 31610782, 40527779
Atrophy Associate 23226416
Azoospermia Nonobstructive Inhibit 24842676
Breast Neoplasms Associate 23082122, 31073170, 34575972, 36960852
Carcinogenesis Associate 36087034
Carcinoma Hepatocellular Associate 20173757, 24776759, 34311471, 34981667, 37828054
Carcinoma Non Small Cell Lung Associate 32568455, 33939316, 35806291
Carcinoma Ovarian Epithelial Associate 36512324
Carcinoma Pancreatic Ductal Associate 28521289