{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"P36956","secondaryAccessions":["B0I4X3","B0I4X4","D3DXC4","Q16062","Q59F52","Q6P4R7","Q6PFW7","Q6PJ36","Q8TAK9"],"uniProtkbId":"SRBP1_HUMAN","entryAudit":{"firstPublicDate":"1994-06-01","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2008-02-05","entryVersion":241,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8402897"}],"value":"Sterol regulatory element-binding protein 1"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8402897"}],"value":"SREBP-1"}]},"alternativeNames":[{"fullName":{"value":"Class D basic helix-loop-helix protein 1"},"shortNames":[{"value":"bHLHd1"}]},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8402897"}],"value":"Sterol regulatory element-binding transcription factor 1"}}],"contains":[{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Processed sterol regulatory element-binding protein 1"}},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Transcription factor SREBF1"}}]}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"7759101"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:11289"}],"value":"SREBF1"},"synonyms":[{"value":"BHLHD1"},{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8402897"}],"value":"SREBP1"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9WTN3"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32322062"}],"value":"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 concentrations promote processing of this form, releasing the transcription factor form that translocates into the nucleus and activates transcription of genes involved in cholesterol biosynthesis and lipid homeostasis (By similarity)"}],"commentType":"FUNCTION","molecule":"Sterol regulatory element-binding protein 1"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9WTN3"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12177166"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32322062"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8402897"}],"value":"Key transcription factor that regulates expression of genes involved in cholesterol biosynthesis and lipid homeostasis (PubMed:12177166, PubMed:32322062, PubMed:8402897). Binds to the sterol regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3'). Has dual sequence specificity binding to both an E-box motif (5'-ATCACGTGA-3') and to SRE-1 (5'-ATCACCCCAC-3') (PubMed:12177166, PubMed:8402897). Regulates the promoters of genes involved in cholesterol biosynthesis and the LDL receptor (LDLR) pathway of sterol regulation (PubMed:12177166, PubMed:32322062, PubMed:8402897)"}],"commentType":"FUNCTION","molecule":"Processed sterol regulatory element-binding protein 1"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9WTN3"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12177166"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32497488"}],"value":"Isoform expressed only in select tissues, which has higher transcriptional activity compared to SREBP-1C (By similarity). Able to stimulate both lipogenic and cholesterogenic gene expression (PubMed:12177166, PubMed:32497488). Has a role in the nutritional regulation of fatty acids and triglycerides in lipogenic organs such as the liver (By similarity). Required for innate immune response in macrophages by regulating lipid metabolism (By similarity)"}],"commentType":"FUNCTION","molecule":"Isoform SREBP-1A"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9WTN3"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12177166"}],"value":"Predominant isoform expressed in most tissues, which has weaker transcriptional activity compared to isoform SREBP-1A (By similarity). Primarily controls expression of lipogenic gene (PubMed:12177166). Strongly activates global lipid synthesis in rapidly growing cells (By similarity)"}],"commentType":"FUNCTION","molecule":"Isoform SREBP-1C"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"7759101"}],"value":"The absence of Golgi proteolytic processing requirement makes this isoform constitutively active in transactivation of lipogenic gene promoters"}],"commentType":"FUNCTION","molecule":"Isoform SREBP-1aDelta"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"7759101"}],"value":"The absence of Golgi proteolytic processing requirement makes this isoform constitutively active in transactivation of lipogenic gene promoters"}],"commentType":"FUNCTION","molecule":"Isoform SREBP-1cDelta"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9WTN3"}],"value":"Activation by cleavage is down-regulated upon activation of SIRT3-dependent PRKAA1/AMPK-alpha signaling cascade which leads to inhibition of ATP-consuming lipogenesis to restore cellular energy balance"}],"commentType":"ACTIVITY REGULATION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26311497"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32322062"}],"value":"Forms a tight complex with SCAP, the SCAP-SREBP complex, in the endoplasmic reticulum membrane and the Golgi apparatus (PubMed:32322062). Interacts with PAQR3; the interaction anchors the SCAP-SREBP complex to the Golgi apparatus in low cholesterol conditions (PubMed:26311497)"}],"commentType":"SUBUNIT","molecule":"Sterol regulatory element-binding protein 1"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9WTN3"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8402897"}],"value":"Efficient DNA binding of the soluble transcription factor fragment requires dimerization with another bHLH protein (PubMed:8402897). Interacts with CEBPA, the interaction produces a transcriptional synergy (By similarity). Interacts with LMNA (By similarity)"}],"commentType":"SUBUNIT","molecule":"Processed sterol regulatory element-binding protein 1"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"P36956","intActId":"EBI-948313"},"interactantTwo":{"uniProtKBAccession":"P54253","geneName":"ATXN1","intActId":"EBI-930964"},"numberOfExperiments":5,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P36956","intActId":"EBI-948313"},"interactantTwo":{"uniProtKBAccession":"P42858","geneName":"HTT","intActId":"EBI-466029"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P36956-1","intActId":"EBI-948328"},"interactantTwo":{"uniProtKBAccession":"Q92793","geneName":"CREBBP","intActId":"EBI-81215"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P36956-1","intActId":"EBI-948328"},"interactantTwo":{"uniProtKBAccession":"Q96RN5","geneName":"MED15","intActId":"EBI-394506"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P36956-1","intActId":"EBI-948328"},"interactantTwo":{"uniProtKBAccession":"P19659","geneName":"GAL11","intActId":"EBI-7305"},"numberOfExperiments":3,"organismDiffer":true},{"interactantOne":{"uniProtKBAccession":"P36956-3","intActId":"EBI-948338"},"interactantTwo":{"uniProtKBAccession":"Q92793","geneName":"CREBBP","intActId":"EBI-81215"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P36956-3","intActId":"EBI-948338"},"interactantTwo":{"uniProtKBAccession":"Q96RN5","geneName":"MED15","intActId":"EBI-394506"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"P36956-3","intActId":"EBI-948338"},"interactantTwo":{"uniProtKBAccession":"Q96EB6","geneName":"SIRT1","intActId":"EBI-1802965"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"chainId":"PRO_0000314029","intActId":"EBI-22057616"},"interactantTwo":{"uniProtKBAccession":"P02545-1","geneName":"LMNA","intActId":"EBI-351949"},"numberOfExperiments":6,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Sterol regulatory element-binding protein 1","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9WTN3"}],"value":"At high sterol concentrations, the SCAP-SREBP is retained in the endoplasmic reticulum. Low sterol concentrations promote recruitment into COPII-coated vesicles and transport of the SCAP-SREBP to the Golgi, where it is processed"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12202038"}],"value":"Endoplasmic reticulum membrane","id":"SL-0097"},"topology":{"evidences":[{"evidenceCode":"ECO:0000255"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"26311497"}],"value":"Golgi apparatus membrane","id":"SL-0134"},"topology":{"evidences":[{"evidenceCode":"ECO:0000255"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9WTN3"}],"value":"Cytoplasmic vesicle, COPII-coated vesicle membrane","id":"SL-0078"},"topology":{"evidences":[{"evidenceCode":"ECO:0000255"}],"value":"Multi-pass membrane protein","id":"SL-9909"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Processed sterol regulatory element-binding protein 1","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11477106"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32322062"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform SREBP-1aDelta","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18267114"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32497488"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform SREBP-1cDelta","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18267114"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32497488"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"SREBP-1A"},"isoformIds":["P36956-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"SREBP-1B"},"isoformIds":["P36956-2"],"sequenceIds":["VSP_002150"],"isoformSequenceStatus":"Described"},{"name":{"value":"SREBP-1C"},"isoformIds":["P36956-3"],"sequenceIds":["VSP_002149","VSP_002150"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["P36956-4"],"sequenceIds":["VSP_030859"],"isoformSequenceStatus":"Described"},{"name":{"value":"SREBP-1aDelta"},"isoformIds":["P36956-5"],"sequenceIds":["VSP_047598","VSP_047599"],"isoformSequenceStatus":"Described"},{"name":{"value":"SREBP-1cDelta"},"isoformIds":["P36956-6"],"sequenceIds":["VSP_002149","VSP_047598","VSP_047599"],"isoformSequenceStatus":"Described"}],"note":{"texts":[{"value":"Additional isoforms seem to exist."}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8402897"}],"value":"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)"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8402897"}],"value":"Predominates in hepatoma cell lines (PubMed:8402897). Also expressed in kidney, brain, white fat, and muscle (PubMed:8402897)"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform SREBP-1A"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8402897"}],"value":"Predominantly expressed in liver and adipose tissues (PubMed:8402897). Also expressed in kidney, brain, white fat, and muscle (PubMed:8402897)"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform SREBP-1C"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31375868"}],"value":"The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32322062"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8626610"}],"value":"Processed in the Golgi apparatus, releasing the protein from the membrane (PubMed:32322062, PubMed:8626610). At low cholesterol the SCAP-SREBP complex is recruited into COPII vesicles for export from the endoplasmic reticulum (PubMed:32322062, PubMed:8626610). In the Golgi, complex SREBPs are cleaved sequentially by site-1 (MBTPS1, S1P) and site-2 (MBTPS2, S2P) protease (PubMed:32322062, PubMed:8626610). The first cleavage by site-1 protease occurs within the luminal loop, the second cleavage by site-2 protease occurs within the first transmembrane domain, releasing the transcription factor from the Golgi membrane (PubMed:32322062)"}],"commentType":"PTM","molecule":"Sterol regulatory element-binding protein 1"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q9WTN3"}],"value":"Phosphorylated by AMPK, leading to suppress protein processing and nuclear translocation, and repress target gene expression (By similarity). Phosphorylation at Ser-402 by SIK1 represses activity possibly by inhibiting DNA-binding (By similarity)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35862218"}],"value":"SCAP-free SREBF1 is ubiquitinated by the BCR(ARMC5) complex, leading to its degradation"}],"commentType":"PTM","molecule":"Sterol regulatory element-binding protein 1"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11477106"}],"value":"Ubiquitinated; the nuclear form has a rapid turnover and is rapidly ubiquitinated and degraded by the proteasome in the nucleus"}],"commentType":"PTM","molecule":"Processed sterol regulatory element-binding protein 1"},{"commentType":"DISEASE","disease":{"diseaseId":"IFAP syndrome 2","diseaseAccession":"DI-05917","acronym":"IFAP2","description":"An autosomal dominant form of IFAP syndrome, a disease characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. IFAP2 patients manifest ichthyosis follicularis or follicular hyperkeratosis, hyperkeratotic plaques, sparse to no body hair, and photophobia with punctate corneal epithelial defects, corneal pannus, and complicated cataract. Ultrastructural hair analysis shows trichorrhexis nodosa.","diseaseCrossReference":{"database":"MIM","id":"619016"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32497488"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Mucoepithelial dysplasia, hereditary","diseaseAccession":"DI-05948","acronym":"HMD","description":"An autosomal dominant genodermatosis mainly characterized by chronic mucosal lesions associated with keratitis, non-scarring alopecia, keratosis pilaris and perineal intertrigo.","diseaseCrossReference":{"database":"MIM","id":"158310"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31790666"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32902915"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this 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