Srebf1 sterol regulatory element binding transcription factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Srebf1provided by MGI
Official Full Name: sterol regulatory element binding transcription factor 1provided by MGI
Primary source: MGI:MGI:107606
See related: Ensembl:ENSMUSG00000020538 AllianceGenome:MGI:107606
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ADD1; SREBP1; bHLHd1
Summary: This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. Alternatively spliced transcript variants have been characterized for this gene. [provided by RefSeq, Nov 2017]
Expression: Broad expression in mammary gland adult (RPKM 175.8), adrenal adult (RPKM 151.4) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B2; 11 37.81 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (60089910..60113407, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (60199084..60224186, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DGAT2 inhibition blocks SREBP-1 cleavage and improves hepatic steatosis by increasing phosphatidylethanolamine in the ER.
Title: DGAT2 inhibition blocks SREBP-1 cleavage and improves hepatic steatosis by increasing phosphatidylethanolamine in the ER.
Macrophage SREBP1 regulates skeletal muscle regeneration.
Title: Macrophage SREBP1 regulates skeletal muscle regeneration.
The role of KLF2 in regulating hepatic lipogenesis and blood cholesterol homeostasis via the SCAP/SREBP pathway.
Title: The role of KLF2 in regulating hepatic lipogenesis and blood cholesterol homeostasis via the SCAP/SREBP pathway.
Exogenous H2 S promotes ubiquitin-mediated degradation of SREBP1 to alleviate diabetic cardiomyopathy via SYVN1 S-sulfhydration.
Title: Exogenous H(2) S promotes ubiquitin-mediated degradation of SREBP1 to alleviate diabetic cardiomyopathy via SYVN1 S-sulfhydration.
Caspase-11 contributes to site-1 protease cleavage and SREBP1 activation in the inflammatory response of macrophages.
Title: Caspase-11 contributes to site-1 protease cleavage and SREBP1 activation in the inflammatory response of macrophages.
Hepatocyte- or macrophage-specific SREBP-1a deficiency in mice exacerbates methionine- and choline-deficient diet-induced nonalcoholic fatty liver disease.
Title: Hepatocyte- or macrophage-specific SREBP-1a deficiency in mice exacerbates methionine- and choline-deficient diet-induced nonalcoholic fatty liver disease.
Paradoxical activation of transcription factor SREBP1c and de novo lipogenesis by hepatocyte-selective ATP-citrate lyase depletion in obese mice.
Title: Paradoxical activation of transcription factor SREBP1c and de novo lipogenesis by hepatocyte-selective ATP-citrate lyase depletion in obese mice.
Srebf1c preserves hematopoietic stem cell function and survival as a switch of mitochondrial metabolism.
Title: Srebf1c preserves hematopoietic stem cell function and survival as a switch of mitochondrial metabolism.
CD36 promotes de novo lipogenesis in hepatocytes through INSIG2-dependent SREBP1 processing.
Title: CD36 promotes de novo lipogenesis in hepatocytes through INSIG2-dependent SREBP1 processing.
Impairment of ULK1 sulfhydration-mediated lipophagy by SREBF1/SREBP-1c in hepatic steatosis.
Title: Impairment of ULK1 sulfhydration-mediated lipophagy by SREBF1/SREBP-1c in hepatic steatosis.

Submit: New GeneRIF Correction See all GeneRIFs (237)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (4) 1 citation
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Srebf1 (e-PCR), detects polymorphism
- UniSTS:507243

PMC134715P1 (e-PCR)
- UniSTS:270743

PMC164762P1 (e-PCR)
- UniSTS:271514

PMC166346P1 (e-PCR)
- UniSTS:271583

GDB:592807 (e-PCR)
- UniSTS:157923

RH132247 (e-PCR)
- UniSTS:215530

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables nuclear receptor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables sterol response element binding	ISO Inferred from Sequence Orthology more info
enables sterol response element binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables transcription coregulator binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in SREBP signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in cellular response to starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to starvation	ISO Inferred from Sequence Orthology more info
acts_upstream_of cholesterol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol metabolic process	ISO Inferred from Sequence Orthology more info
involved_in circadian rhythm	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within insulin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mRNA transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of negative regulation of triglyceride metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cholesterol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of cholesterol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cholesterol biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of fatty acid biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of lipid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of miRNA transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of triglyceride biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of triglyceride biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of fatty acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of heart rate by chemical signal	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitophagy	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein stability	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein targeting to mitochondrion	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to glucose	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within steroid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sterol regulatory element-binding protein 1

Names: adipocyte determination- and differentiation-dependent factor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001313979.1 → NP_001300908.1 sterol regulatory element-binding protein 1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AF374266, BC056922, BY288773

UniProtKB/TrEMBL

F6XZS9

Conserved Domains (2) summary

cd00083
Location:310 → 367

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

pfam12497
Location:114 → 210

ERbeta_N; Estrogen receptor beta
NM_001358314.1 → NP_001345243.1 sterol regulatory element-binding protein 1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as SREBP-1c) differs in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (c) has a distinct, shorter N-terminus compared to isoform a.

Source sequence(s)

AL669954

UniProtKB/TrEMBL

F6XZS9

Related

ENSMUSP00000120777.2, ENSMUST00000144942.2

Conserved Domains (3) summary

cd00083
Location:291 → 348

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cl25887
Location:106 → 193

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cl26386
Location:17 → 198

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
NM_001358315.1 → NP_001345244.1 sterol regulatory element-binding protein 1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (d) has a shorter N-terminus than isoform a.

Source sequence(s)

AL669954

UniProtKB/TrEMBL

F6XZS9

Conserved Domains (3) summary

TIGR01628
Location:99 → 186

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

PRK12323
Location:10 → 191

PRK12323; DNA polymerase III subunit gamma/tau

cd18921
Location:282 → 353

bHLHzip_SREBP1; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in sterol regulatory element-binding protein 1 (SREBP1) and similar proteins
NM_011480.4 → NP_035610.1 sterol regulatory element-binding protein 1 isoform a precursor

See identical proteins and their annotated locations for NP_035610.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as SREBP-1a) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AL669954, BC056922, BY288773

Consensus CDS

CCDS24785.1

UniProtKB/Swiss-Prot

Q3U458, Q3UDJ3, Q5SRX5, Q8C733, Q99JK7, Q9WTN3

UniProtKB/TrEMBL

F6XZS9

Related

ENSMUSP00000020846.2, ENSMUST00000020846.8

Conserved Domains (2) summary

cd00083
Location:315 → 372

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

pfam12497
Location:114 → 210

ERbeta_N; Estrogen receptor beta

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

60089910..60113407 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532716.4 → XP_006532779.1 sterol regulatory element-binding protein 1 isoform X3

UniProtKB/TrEMBL

F6XZS9

Conserved Domains (2) summary

pfam15685
Location:82 → 197

GGN; Gametogenetin

cd18921
Location:284 → 355

bHLHzip_SREBP1; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in sterol regulatory element-binding protein 1 (SREBP1) and similar proteins
XM_036156490.1 → XP_036012383.1 sterol regulatory element-binding protein 1 isoform X1

UniProtKB/TrEMBL

F6XZS9

Conserved Domains (3) summary

TIGR01628
Location:99 → 186

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

PRK12323
Location:10 → 191

PRK12323; DNA polymerase III subunit gamma/tau

cd18921
Location:282 → 353

bHLHzip_SREBP1; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in sterol regulatory element-binding protein 1 (SREBP1) and similar proteins
XM_030245748.1 → XP_030101608.1 sterol regulatory element-binding protein 1 isoform X4

UniProtKB/TrEMBL

F6XZS9

Related

ENSMUSP00000122934.2, ENSMUST00000134660.8

Conserved Domains (2) summary

pfam15685
Location:75 → 190

GGN; Gametogenetin

cd18921
Location:277 → 348

bHLHzip_SREBP1; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in sterol regulatory element-binding protein 1 (SREBP1) and similar proteins
XM_036156491.1 → XP_036012384.1 sterol regulatory element-binding protein 1 isoform X2

UniProtKB/TrEMBL

F6XZS9

Conserved Domains (3) summary

TIGR01628
Location:107 → 194

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

PRK12323
Location:18 → 199

PRK12323; DNA polymerase III subunit gamma/tau

cd18921
Location:290 → 361

bHLHzip_SREBP1; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in sterol regulatory element-binding protein 1 (SREBP1) and similar proteins