• Gene id: 6720

Gene Summary

• Gene Symbol: SREBF1   Gene   UCSC   Ensembl
• Aliases: SREBP1, bHLHd1
• Gene name: sterol regulatory element binding transcription factor 1
• Alternate names: sterol regulatory element-binding protein 1, class D basic helix-loop-helix protein 1,
• Gene location: 17p11.2 (17837016: 17811333)     Exons: 22     NC_000017.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: P36956  
  • 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]
  • Length: 1147  
  • Mass: 121675
  • Tissue specificity: Expressed in a wide variety of tissues, most abundant in liver and adrenal gland. In fetal tissues lung and liver shows highest expression. Isoform SREBP-1C predominates in liver, adrenal gland and ovary, whereas isoform SREBP-1A predo
• Sequence:

  MDEPPFSEAALEQALGEPCDLDAALLTDIEDMLQLINNQDSDFPGLFDPPYAGSGAGGTDPASPDTSSPGSLSPP
  PATLSSSLEAFLSGPQAAPSPLSPPQPAPTPLKMYPSMPAFSPGPGIKEESVPLSILQTPTPQPLPGALLPQSFP
  APAPPQFSSTPVLGYPSPPGGFSTGSPPGNTQQPLPGLPLASPPGVPPVSLHTQVQSVVPQQLLTVTAAPTAAPV
  TTTVTSQIQQVPVLLQPHFIKADSLLLTAMKTDGATVKAAGLSPLVSGTTVQTGPLPTLVSGGTILATVPLVVDA
  EKLPINRLAAGSKAPASAQSRGEKRTAHNAIEKRYRSSINDKIIELKDLVVGTEAKLNKSAVLRKAIDYIRFLQH
  SNQKLKQENLSLRTAVHKSKSLKDLVSACGSGGNTDVLMEGVKTEVEDTLTPPPSDAGSPFQSSPLSLGSRGSGS
  GGSGSDSEPDSPVFEDSKAKPEQRPSLHSRGMLDRSRLALCTLVFLCLSCNPLASLLGARGLPSPSDTTSVYHSP
  GRNVLGTESRDGPGWAQWLLPPVVWLLNGLLVLVSLVLLFVYGEPVTRPHSGPAVYFWRHRKQADLDLARGDFAQ
  AAQQLWLALRALGRPLPTSHLDLACSLLWNLIRHLLQRLWVGRWLAGRAGGLQQDCALRVDASASARDAALVYHK
  LHQLHTMGKHTGGHLTATNLALSALNLAECAGDAVSVATLAEIYVAAALRVKTSLPRALHFLTRFFLSSARQACL
  AQSGSVPPAMQWLCHPVGHRFFVDGDWSVLSTPWESLYSLAGNPVDPLAQVTQLFREHLLERALNCVTQPNPSPG
  SADGDKEFSDALGYLQLLNSCSDAAGAPAYSFSISSSMATTTGVDPVAKWWASLTAVVIHWLRRDEEAAERLCPL
  VEHLPRVLQESERPLPRAALHSFKAARALLGCAKAESGPASLTICEKASGYLQDSLATTPASSSIDKAVQLFLCD
  LLLVVRTSLWRQQQPPAPAPAAQGTSSRPQASALELRGFQRDLSSLRRLAQSFRPAMRRVFLHEATARLMAGASP
  TRTHQLLDRSLRRRAGPGGKGGAVAELEPRPTRREHAEALLLASCYLPPGFLSAPGQRVGMLAEAARTLEKLGDR
  RLLHDCQQMLMRLGGGTTVTSS

• Structural information:
  • Protein Domains: (323..37-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  
  • Prosite: PS50888
  • CDD: cd00083
  • PDB: 1AM9
  • PDBsum: 1AM9
  • DIP: 331
  • STRING: ENSP00000348069
• Other Databases: GeneCards:  SREBF1  Malacards:  SREBF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004879	nuclear receptor activity	IDA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:1903146	regulation of autophagy of mitochondrion	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1903214	regulation of protein targeting to mitochondrion	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:0031647	regulation of protein stability	IMP	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0032810	sterol response element binding	IDA	molecular function
GO:0009267	cellular response to starvation	ISS	biological process
GO:0032933	SREBP signaling pathway	IMP	biological process
GO:0032933	SREBP signaling pathway	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0033993	response to lipid	IBA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IBA	biological process
GO:0008610	lipid biosynthetic process	ISS	biological process
GO:0010867	positive regulation of triglyceride biosynthetic process	ISS	biological process
GO:0003677	DNA binding	ISS	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0007623	circadian rhythm	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071398	cellular response to fatty acid	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0033993	response to lipid	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0032570	response to progesterone	IEA	biological process
GO:0032094	response to food	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0046676	negative regulation of insulin secretion	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045542	positive regulation of cholesterol biosynthetic process	IEA	biological process
GO:0045444	fat cell differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0042789	mRNA transcription by RNA polymerase II	IEA	biological process
GO:0019217	regulation of fatty acid metabolic process	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0008610	lipid biosynthetic process	IEA	biological process
GO:0008286	insulin receptor signaling pathway	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0070542	response to fatty acid	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043434	response to peptide hormone	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0033762	response to glucagon	IEA	biological process
GO:0032526	response to retinoic acid	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0009267	cellular response to starvation	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0050796	regulation of insulin secretion	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0031065	positive regulation of histone deacetylation	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0010867	positive regulation of triglyceride biosynthetic process	IEA	biological process
GO:0009267	cellular response to starvation	IEA	biological process
GO:0007623	circadian rhythm	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003062	regulation of heart rate by chemical signal	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04932	Non-alcoholic fatty liver disease
hsa04910	Insulin signaling pathway
hsa04152	AMPK signaling pathway
hsa04931	Insulin resistance

Diseases

Associated diseases	References
type 2 diabetes mellitus	PMID:18692268
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq