SREBF1 | ENSG00000072310 | NCBI 6720

Details for: SREBF1

Gene ID: 6720

Symbol: SREBF1

Ensembl ID: ENSG00000072310

Description: sterol regulatory element binding transcription factor 1

Associated with

Activation of gene expression by srebf (srebp)
(R-HSA-2426168)
Adipogenesis
(R-HSA-9843745)
Cholesterol biosynthesis
(R-HSA-191273)
Circadian clock
(R-HSA-400253)
Developmental biology
(R-HSA-1266738)
Foxo-mediated transcription
(R-HSA-9614085)
Foxo-mediated transcription of oxidative stress, metabolic and neuronal genes
(R-HSA-9615017)
Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
Metabolism
(R-HSA-1430728)
Metabolism of lipids
(R-HSA-556833)
Metabolism of steroids
(R-HSA-8957322)
Nr1h2 & nr1h3 regulate gene expression linked to lipogenesis
(R-HSA-9029558)
Nr1h2 and nr1h3-mediated signaling
(R-HSA-9024446)
Ppara activates gene expression
(R-HSA-1989781)
Regulation of cholesterol biosynthesis by srebp (srebf)
(R-HSA-1655829)
Regulation of lipid metabolism by pparalpha
(R-HSA-400206)
Rna polymerase ii transcription
(R-HSA-73857)
Rora activates gene expression
(R-HSA-1368082)
Signaling by nuclear receptors
(R-HSA-9006931)
Signal transduction
(R-HSA-162582)
Transcriptional regulation of white adipocyte differentiation
(R-HSA-381340)
Cellular response to fatty acid
(GO:0071398)
Cellular response to starvation
(GO:0009267)
Cholesterol biosynthetic process
(GO:0006695)
Chromatin
(GO:0000785)
Chromatin binding
(GO:0003682)
Circadian rhythm
(GO:0007623)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Dna-binding transcription activator activity, rna polymerase ii-specific
(GO:0001228)
Dna-binding transcription factor activity
(GO:0003700)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Dna binding
(GO:0003677)
Endoplasmic reticulum
(GO:0005783)
Endoplasmic reticulum membrane
(GO:0005789)
Er to golgi transport vesicle membrane
(GO:0012507)
Fat cell differentiation
(GO:0045444)
Golgi membrane
(GO:0000139)
Insulin receptor signaling pathway
(GO:0008286)
Insulin secretion
(GO:0030073)
Intracellular receptor signaling pathway
(GO:0030522)
Lipid biosynthetic process
(GO:0008610)
Lipid metabolic process
(GO:0006629)
Lung development
(GO:0030324)
Mrna transcription by rna polymerase ii
(GO:0042789)
Negative regulation of insulin secretion
(GO:0046676)
Negative regulation of transcription by rna polymerase ii
(GO:0000122)
Negative regulation of triglyceride metabolic process
(GO:0090209)
Nuclear envelope
(GO:0005635)
Nuclear receptor activity
(GO:0004879)
Nucleoplasm
(GO:0005654)
Nucleus
(GO:0005634)
Positive regulation of cholesterol biosynthetic process
(GO:0045542)
Positive regulation of mirna transcription
(GO:1902895)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Positive regulation of triglyceride biosynthetic process
(GO:0010867)
Protein-containing complex
(GO:0032991)
Protein-containing complex binding
(GO:0044877)
Protein binding
(GO:0005515)
Protein dimerization activity
(GO:0046983)
Protein kinase binding
(GO:0019901)
Regulation of fatty acid metabolic process
(GO:0019217)
Regulation of heart rate by chemical signal
(GO:0003062)
Regulation of lipid storage
(GO:0010883)
Regulation of mitophagy
(GO:1901524)
Regulation of protein stability
(GO:0031647)
Regulation of protein targeting to mitochondrion
(GO:1903214)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Response to camp
(GO:0051591)
Response to ethanol
(GO:0045471)
Response to food
(GO:0032094)
Response to fructose
(GO:0009750)
Response to glucagon
(GO:0033762)
Response to glucose
(GO:0009749)
Response to nutrient
(GO:0007584)
Response to progesterone
(GO:0032570)
Response to retinoic acid
(GO:0032526)
Response to xenobiotic stimulus
(GO:0009410)
Rna polymerase ii cis-regulatory region sequence-specific dna binding
(GO:0000978)
Rna polymerase ii transcription regulatory region sequence-specific dna binding
(GO:0000977)
Sequence-specific double-stranded dna binding
(GO:1990837)
Srebp signaling pathway
(GO:0032933)
Sterol response element binding
(GO:0032810)
Transcription coregulator binding
(GO:0001221)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 159.6963
Cell Significance Index: -24.8400
Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 110.9432
Cell Significance Index: -28.1400
Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 57.2421
Cell Significance Index: -23.2600
Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 24.3731
Cell Significance Index: -23.2700
Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 22.9368
Cell Significance Index: -28.2800
Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 10.2936
Cell Significance Index: -27.5800
Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 7.2807
Cell Significance Index: -28.7300
Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 5.6977
Cell Significance Index: -12.4700
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 4.3126
Cell Significance Index: 58.8400
Cell Name: epithelial cell of pancreas (CL0000083)
Fold Change: 2.9699
Cell Significance Index: 48.9400
Cell Name: decidual cell (CL2000002)
Fold Change: 2.1738
Cell Significance Index: 34.8800
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 1.9113
Cell Significance Index: 51.2200
Cell Name: sebaceous gland cell (CL2000021)
Fold Change: 1.7236
Cell Significance Index: 2.2300
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 1.5841
Cell Significance Index: 82.2900
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 1.5738
Cell Significance Index: 45.3500
Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: 1.3786
Cell Significance Index: 12.7000
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 1.1485
Cell Significance Index: 53.5500
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 1.1045
Cell Significance Index: 199.1100
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 1.0338
Cell Significance Index: 62.0700
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.9531
Cell Significance Index: 103.6700
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.8543
Cell Significance Index: 138.9500
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.7567
Cell Significance Index: 34.3000
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.5825
Cell Significance Index: 57.6200
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.5448
Cell Significance Index: 66.9900
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.5337
Cell Significance Index: 105.9100
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.4938
Cell Significance Index: 13.8000
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.4806
Cell Significance Index: 33.2400
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.4776
Cell Significance Index: 95.8000
Cell Name: cell in vitro (CL0001034)
Fold Change: 0.3999
Cell Significance Index: 218.3900
Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: 0.3868
Cell Significance Index: 6.5200
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.3491
Cell Significance Index: 657.3200
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.3489
Cell Significance Index: 47.9200
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.3283
Cell Significance Index: 15.4300
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.2562
Cell Significance Index: 5.3200
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.2526
Cell Significance Index: 160.4200
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.2426
Cell Significance Index: 329.8100
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.2172
Cell Significance Index: 77.9200
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.2080
Cell Significance Index: 39.5800
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.2043
Cell Significance Index: 7.1800
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.1938
Cell Significance Index: 85.7000
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.1859
Cell Significance Index: 3.9600
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.1667
Cell Significance Index: 12.4300
Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.1255
Cell Significance Index: 231.4700
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.1172
Cell Significance Index: 81.0900
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.1114
Cell Significance Index: 171.5100
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 0.0759
Cell Significance Index: 4.2600
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.0420
Cell Significance Index: 0.4400
Cell Name: lactocyte (CL0002325)
Fold Change: 0.0308
Cell Significance Index: 3.9800
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.0273
Cell Significance Index: 2.1000
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.0246
Cell Significance Index: 0.6700
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.0076
Cell Significance Index: 0.4800
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: 0.0031
Cell Significance Index: 2.3500
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.0009
Cell Significance Index: 0.8200
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0046
Cell Significance Index: -2.0800
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0074
Cell Significance Index: -5.4900
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0113
Cell Significance Index: -8.3000
Cell Name: subcutaneous adipocyte (CL0002521)
Fold Change: -0.0161
Cell Significance Index: -0.0700
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0229
Cell Significance Index: -14.3100
Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
Fold Change: -0.0260
Cell Significance Index: -0.1600
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0307
Cell Significance Index: -5.2400
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0314
Cell Significance Index: -17.7300
Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.0392
Cell Significance Index: -2.7700
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0468
Cell Significance Index: -4.7800
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0654
Cell Significance Index: -13.7800
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0709
Cell Significance Index: -8.1200
Cell Name: keratocyte (CL0002363)
Fold Change: -0.0715
Cell Significance Index: -1.1400
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0805
Cell Significance Index: -23.1600
Cell Name: odontoblast (CL0000060)
Fold Change: -0.0871
Cell Significance Index: -11.1700
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0888
Cell Significance Index: -12.9100
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.0974
Cell Significance Index: -11.4900
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0994
Cell Significance Index: -2.6600
Cell Name: hippocampal astrocyte (CL0002604)
Fold Change: -0.1244
Cell Significance Index: -1.7400
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.1401
Cell Significance Index: -3.0400
Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: -0.1417
Cell Significance Index: -0.9600
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1441
Cell Significance Index: -15.0000
Cell Name: OFF midget ganglion cell (CL4033047)
Fold Change: -0.1520
Cell Significance Index: -1.9000
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.1594
Cell Significance Index: -18.5800
Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.1611
Cell Significance Index: -18.4000
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.2121
Cell Significance Index: -6.0800
Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.2222
Cell Significance Index: -14.3400
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.2254
Cell Significance Index: -7.2200
Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: -0.2290
Cell Significance Index: -3.3800
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: -0.2936
Cell Significance Index: -4.1800
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.3003
Cell Significance Index: -18.4600
Cell Name: ON midget ganglion cell (CL4033046)
Fold Change: -0.3106
Cell Significance Index: -3.9200
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.3189
Cell Significance Index: -25.2600
Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: -0.3198
Cell Significance Index: -16.1600
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.3358
Cell Significance Index: -22.5800
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.3596
Cell Significance Index: -9.6200
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.3836
Cell Significance Index: -9.8600
Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: -0.3869
Cell Significance Index: -3.2000
Cell Name: granulosa cell (CL0000501)
Fold Change: -0.3875
Cell Significance Index: -10.1900
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.3918
Cell Significance Index: -20.5700
Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.3955
Cell Significance Index: -20.6000
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.4005
Cell Significance Index: -24.5600
Cell Name: preadipocyte (CL0002334)
Fold Change: -0.4340
Cell Significance Index: -8.4700
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: -0.4471
Cell Significance Index: -7.7300
Cell Name: peg cell (CL4033014)
Fold Change: -0.4811
Cell Significance Index: -11.1200
Cell Name: Hofbauer cell (CL3000001)
Fold Change: -0.4832
Cell Significance Index: -3.9400
Cell Name: corneal endothelial cell (CL0000132)
Fold Change: -0.5298
Cell Significance Index: -8.0600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics:** 1. **Transcription Factor Activity:** SREBF1 is a transcription factor that regulates the expression of genes involved in lipid metabolism, cholesterol biosynthesis, and cell differentiation. 2. **Sterol Regulatory Element Binding:** SREBF1 binds to sterol regulatory elements (SREs) in the promoter regions of target genes, activating their expression. 3. **Activation by SREBP:** SREBF1 is activated by SREBP, a transcription factor that regulates the expression of genes involved in lipid metabolism and cholesterol biosynthesis. 4. **Cellular Expression:** SREBF1 is significantly expressed in various cell types, including adipocytes, neurons, and epithelial cells. **Pathways and Functions:** 1. **Lipid Metabolism:** SREBF1 regulates the expression of genes involved in lipid metabolism, including those involved in fatty acid synthesis and oxidation. 2. **Cholesterol Biosynthesis:** SREBF1 is involved in regulating the expression of genes involved in cholesterol biosynthesis, including those involved in the mevalonate pathway. 3. **Cell Differentiation:** SREBF1 regulates the expression of genes involved in cell differentiation, including those involved in adipocyte and neuronal differentiation. 4. **Insulin Secretion:** SREBF1 is involved in regulating insulin secretion, particularly in pancreatic beta cells. 5. **Circadian Rhythm:** SREBF1 is also involved in regulating the circadian rhythm, particularly in the regulation of lipid metabolism and cholesterol biosynthesis. **Clinical Significance:** 1. **Metabolic Disorders:** Alterations in SREBF1 expression have been implicated in various metabolic disorders, including obesity, insulin resistance, and atherosclerosis. 2. **Cancer:** SREBF1 has been implicated in the development and progression of various cancers, including breast, lung, and colon cancer. 3. **Neurological Disorders:** SREBF1 has been implicated in the development and progression of neurological disorders, including Alzheimer's disease and Parkinson's disease. 4. **Pharmacological Targets:** SREBF1 is a potential target for the development of novel therapeutic agents for the treatment of metabolic disorders and cancer. In conclusion, SREBF1 is a critical transcription factor that plays a key role in regulating lipid metabolism, cholesterol biosynthesis, and cell differentiation. Its dysregulation has been implicated in various metabolic disorders and cancers, and it is a potential target for the development of novel therapeutic agents. As an expert immunologist, I believe that further research on SREBF1 and its role in various cellular processes will provide valuable insights into the mechanisms underlying these diseases and will lead to the development of novel therapeutic strategies.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Class D basic helix-loop-helix protein 1
B3KR77_HUMAN

Genular Protein ID: 4284333057

Symbol: SRBP1_HUMAN

Name: Class D basic helix-loop-helix protein 1

UniProtKB Accession Codes:

P36956 B0I4X3 B0I4X4 D3DXC4 Q16062 Q59F52 Q6P4R7 Q6PFW7 Q6PJ36 Q8TAK9

Database IDs:

Citations:

PubMed ID: 8402897

Title: SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene.

PubMed ID: 8402897

DOI: 10.1016/s0092-8674(05)80095-9

PubMed ID: 7759101

Title: 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

DOI: 10.1016/0888-7543(95)80009-b

PubMed ID: 18267114

Title: Alternative splicing produces a constitutively active form of human SREBP-1.

PubMed ID: 18267114

DOI: 10.1016/j.bbrc.2008.02.004

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11477106

Title: Direct demonstration of rapid degradation of nuclear sterol regulatory element-binding proteins by the ubiquitin-proteasome pathway.

PubMed ID: 11477106

DOI: 10.1074/jbc.m105200200

PubMed ID: 12202038

Title: Crucial step in cholesterol homeostasis: sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER.

PubMed ID: 12202038

DOI: 10.1016/s0092-8674(02)00872-3

PubMed ID: 8626610

Title: Regulated cleavage of sterol regulatory element binding proteins requires sequences on both sides of the endoplasmic reticulum membrane.

PubMed ID: 8626610

DOI: 10.1074/jbc.271.17.10379

PubMed ID: 12177166

Title: Transcriptional activities of nuclear SREBP-1a, -1c, and -2 to different target promoters of lipogenic and cholesterogenic genes.

PubMed ID: 12177166

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 28849786

Title: SREBP-regulated lipid metabolism: convergent physiology - divergent pathophysiology.

PubMed ID: 28849786

DOI: 10.1038/nrendo.2017.91

PubMed ID: 31375868

Title: The evolution of the 9aaTAD domain in Sp2 proteins: inactivation with valines and intron reservoirs.

PubMed ID: 31375868

DOI: 10.1007/s00018-019-03251-w

PubMed ID: 32497488

Title: Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

PubMed ID: 32497488

DOI: 10.1016/j.ajhg.2020.05.006

PubMed ID: 32902915

Title: Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability.

PubMed ID: 32902915

DOI: 10.1002/ajmg.a.61849

PubMed ID: 31790666

Title: Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis.

PubMed ID: 31790666

DOI: 10.1016/j.jid.2019.10.014

PubMed ID: 32322062

Title: The gluconeogenic enzyme PCK1 phosphorylates INSIG1/2 for lipogenesis.

PubMed ID: 32322062

DOI: 10.1038/s41586-020-2183-2

PubMed ID: 9634703

Title: Co-crystal structure of sterol regulatory element binding protein 1a at 2.3-A resolution.

PubMed ID: 9634703

DOI: 10.1016/s0969-2126(98)00067-7

Sequence Information:

Length: 1147
Mass: 121675
Checksum: 58F28870739FF259
Sequence:

MDEPPFSEAA LEQALGEPCD LDAALLTDIE DMLQLINNQD SDFPGLFDPP YAGSGAGGTD 
PASPDTSSPG SLSPPPATLS SSLEAFLSGP QAAPSPLSPP QPAPTPLKMY PSMPAFSPGP 
GIKEESVPLS ILQTPTPQPL PGALLPQSFP APAPPQFSST PVLGYPSPPG GFSTGSPPGN 
TQQPLPGLPL ASPPGVPPVS LHTQVQSVVP QQLLTVTAAP TAAPVTTTVT SQIQQVPVLL 
QPHFIKADSL LLTAMKTDGA TVKAAGLSPL VSGTTVQTGP LPTLVSGGTI LATVPLVVDA 
EKLPINRLAA GSKAPASAQS RGEKRTAHNA IEKRYRSSIN DKIIELKDLV VGTEAKLNKS 
AVLRKAIDYI RFLQHSNQKL KQENLSLRTA VHKSKSLKDL VSACGSGGNT DVLMEGVKTE 
VEDTLTPPPS DAGSPFQSSP LSLGSRGSGS GGSGSDSEPD SPVFEDSKAK PEQRPSLHSR 
GMLDRSRLAL CTLVFLCLSC NPLASLLGAR GLPSPSDTTS VYHSPGRNVL GTESRDGPGW 
AQWLLPPVVW LLNGLLVLVS LVLLFVYGEP VTRPHSGPAV YFWRHRKQAD LDLARGDFAQ 
AAQQLWLALR ALGRPLPTSH LDLACSLLWN LIRHLLQRLW VGRWLAGRAG GLQQDCALRV 
DASASARDAA LVYHKLHQLH TMGKHTGGHL TATNLALSAL NLAECAGDAV SVATLAEIYV 
AAALRVKTSL PRALHFLTRF FLSSARQACL AQSGSVPPAM QWLCHPVGHR FFVDGDWSVL 
STPWESLYSL AGNPVDPLAQ VTQLFREHLL ERALNCVTQP NPSPGSADGD KEFSDALGYL 
QLLNSCSDAA GAPAYSFSIS SSMATTTGVD PVAKWWASLT AVVIHWLRRD EEAAERLCPL 
VEHLPRVLQE SERPLPRAAL HSFKAARALL GCAKAESGPA SLTICEKASG YLQDSLATTP 
ASSSIDKAVQ LFLCDLLLVV RTSLWRQQQP PAPAPAAQGT SSRPQASALE LRGFQRDLSS 
LRRLAQSFRP AMRRVFLHEA TARLMAGASP TRTHQLLDRS LRRRAGPGGK GGAVAELEPR 
PTRREHAEAL LLASCYLPPG FLSAPGQRVG MLAEAARTLE KLGDRRLLHD CQQMLMRLGG 
GTTVTSS

Genular Protein ID: 1072930369

Symbol: B3KR77_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KR77

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

Length: 1123
Mass: 119225
Checksum: 670360DD84047A37
Sequence:

MDCTFEDMLQ LINNQDSDFP GLFDPPYAGS GAGGTDPASP DTSSPGSLSP PPATLSSSLE 
AFLSGPQAAP SPLSPPQPAP TPLKMYPSMP AFSPGPGIKE ESVPLSILQT PTPQPLPGAL 
LPQSFPAPAP PQFSSTPVLG YPSPPGGFST GSPPGNTQQP LPGLPLASPP GVPPVSLHTQ 
VQSVVPQQLL TVTAAPTAAP VTTTVTSQIQ QVPVLLQPHF IKADSLLLTA MKTDGATVKA 
AGLSPLVSGT TVQTGPLPTL VSGGTILATV PLVVDAEKLP INRLAAGSKA PASAQSRGEK 
RTAHNAIEKR YRSPINDKII ELKDLVVGTE AKLNKSAVLR KAIDYIRFLQ HSNQKLKQEN 
LSLRTAVHKS KSLKDLVSAC GSGGNTDVLM EGVKTEVEDT LTPPPSDAGS PFQSSPLSLG 
SRGSGSGGSG SDSEPDSPVF EDSKAKPEQR PSLHSRGMLD RSRLALCTLV FLCLSCNPLA 
SLLGARGLPS PSDTTSVYHS PGRNVLGTES RDGPGWAQWL LPPVVWLLNG LLVLVSLVLL 
FVYGEPVTRP HSGPAVYFWR HRKQADLDLA RGDFAQAAQQ LWLALRALGR PLPTSHLDLA 
CSLLWNLIRH LLQRLWVGRW LAGRAGGLQQ DCALRVDASA SARDAALVYH KLHQLHTMGK 
HTGGHLTATN LALSALNLAE CAGDAVSVAT LAEIYVAAAL RVKTSLPRAL HFLTRFFLSS 
ARQACLAQSG SVPPAMQWLC HPVGHRFFVD GDWSVLSTPW ESLYSLAGNP VDPLAQVTQL 
FREHLLERAL NCVTQPNPSP GSADGDKEFS DALGYLQLLN SCSDAAGAPA YSFSISSSMA 
TTTGVDPVAK WWASLTAVVI HWLRRDEEAA ERLCPLVEHL PRVLQESERP LPRAALHSFK 
AARALLGCAK AESGPASLTI CEKASGYLQD SLATTPASSS IDKAVQLFLC DLLLVVRTSL 
WRQQQPPAPA PAAQGTSSRP QASALELRGF QRDLSSLRRL AQSFRPAMRR VFLHEATARL 
MAGASPTRTH QLLDRSLRRR AGPGGKGGAV AELEPRPTRR EHAEALLLAS CYLPPGFLSA 
PGQRVGMLAE AARTLEKLGD RRLLHDCQQM LMRLGGGTTV TSS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: SREBF1

Associated with

Cells (max top 100)

Other Information

SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene. PubMed ID: 8402897

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

Alternative splicing produces a constitutively active form of human SREBP-1. PubMed ID: 18267114

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. PubMed ID: 16625196

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Direct demonstration of rapid degradation of nuclear sterol regulatory element-binding proteins by the ubiquitin-proteasome pathway. PubMed ID: 11477106

Crucial step in cholesterol homeostasis: sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER. PubMed ID: 12202038

Regulated cleavage of sterol regulatory element binding proteins requires sequences on both sides of the endoplasmic reticulum membrane. PubMed ID: 8626610

Transcriptional activities of nuclear SREBP-1a, -1c, and -2 to different target promoters of lipogenic and cholesterogenic genes. PubMed ID: 12177166

A quantitative atlas of mitotic phosphorylation. PubMed ID: 18669648

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

SREBP-regulated lipid metabolism: convergent physiology - divergent pathophysiology. PubMed ID: 28849786

The evolution of the 9aaTAD domain in Sp2 proteins: inactivation with valines and intron reservoirs. PubMed ID: 31375868

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. PubMed ID: 32497488

Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability. PubMed ID: 32902915

Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis. PubMed ID: 31790666

The gluconeogenic enzyme PCK1 phosphorylates INSIG1/2 for lipogenesis. PubMed ID: 32322062

Co-crystal structure of sterol regulatory element binding protein 1a at 2.3-A resolution. PubMed ID: 9634703

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039