Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6720
Gene name Gene Name - the full gene name approved by the HGNC.
Sterol regulatory element binding transcription factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SREBF1
Synonyms (NCBI Gene) Gene synonyms aliases
HMD, IFAP2, SREBP1, bHLHd1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HMD, IFAP2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p11.2
Summary Summary of gene provided in NCBI Entrez 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 inv
miRNA miRNA information provided by mirtarbase database.
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 factor Regulation Reference
SP1 Activation 20179320
SP1 Unknown 15462672
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II 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
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
184756 11289 ENSG00000072310
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Hirschsprung Disease Hirschsprung disease GenCC
Diabetes Diabetes GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Dementia Dementia GWAS
Associations from Text Mining
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