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SREBF1 sterol regulatory element binding transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 6720, updated on 12-Jun-2022

Summary

Official Symbol
SREBF1provided by HGNC
Official Full Name
sterol regulatory element binding transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:11289
See related
Ensembl:ENSG00000072310 MIM:184756; AllianceGenome:HGNC:11289
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HMD; IFAP2; SREBP1; bHLHd1
Summary
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 involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017]
Expression
Ubiquitous expression in fat (RPKM 35.7), adrenal (RPKM 34.6) and 24 other tissues See more
Orthologs
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Genomic context

See SREBF1 in Genome Data Viewer
Location:
17p11.2
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (17811334..17836986, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17757927..17783669, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17714648..17740300, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene retinoic acid induced 1 Neighboring gene Sharpr-MPRA regulatory region 10806 Neighboring gene Sharpr-MPRA regulatory region 10333 Neighboring gene microRNA 6777 Neighboring gene microRNA 33b Neighboring gene Sharpr-MPRA regulatory region 7387 Neighboring gene target of myb1 like 2 membrane trafficking protein Neighboring gene uncharacterized LOC107984989 Neighboring gene brain protein I3 pseudogene 3 Neighboring gene dynein regulatory complex subunit 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hereditary mucoepithelial dysplasia
MedGen: C1274795 OMIM: 158310 GeneReviews: Not available
not available
IFAP syndrome 2
MedGen: C5436607 OMIM: 619016 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
matrix gag HIV-1 MA increases SREBF1 mRNA expression in HepG2 cells and praimary hepatocytes PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
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 ISA
Inferred from Sequence Alignment
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
 
enables nuclear receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables sterol response element binding IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription coregulator binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in SREBP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in SREBP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in aging IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to fatty acid IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to starvation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
involved_in fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in insulin secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lipid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lipid localization IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in lung development IEA
Inferred from Electronic Annotation
more info
 
involved_in mRNA transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of histone deacetylation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of miRNA transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in 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 IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of triglyceride biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of autophagy of mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of heart rate by chemical signal IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of lipid storage IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein targeting to mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to cAMP IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ethanol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to food IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glucagon IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glucose IEA
Inferred from Electronic Annotation
more info
 
involved_in response to progesterone IEA
Inferred from Electronic Annotation
more info
 
involved_in response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in ER to Golgi transport vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear envelope TAS
Traceable Author Statement
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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sterol regulatory element-binding protein 1
Names
class D basic helix-loop-helix protein 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_029029.1 RefSeqGene

    Range
    5026..30678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005291.3NP_001005291.1  sterol regulatory element-binding protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001005291.1

    Status: REVIEWED

    Source sequence(s)
    AC122129, BC026962, BC057388, BC063281, BQ025047
    Consensus CDS
    CCDS32583.1
    UniProtKB/Swiss-Prot
    P36956
    Related
    ENSP00000348069.4, ENST00000355815.8
    Conserved Domains (2) summary
    cd00083
    Location:351408
    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, ...
    pfam17040
    Location:156356
    CBP_CCPA; Cellulose-complementing protein A
  2. NM_001321096.3NP_001308025.1  sterol regulatory element-binding protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC122129, AK091131, BE208013, DA113045, DB084001
    UniProtKB/TrEMBL
    B3KR77
    Conserved Domains (2) summary
    cd00083
    Location:297354
    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, ...
    pfam17040
    Location:102302
    CBP_CCPA; Cellulose-complementing protein A
  3. NM_001388385.1NP_001375314.1  sterol regulatory element-binding protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC122129
    Conserved Domains (3) summary
    pfam05109
    Location:49320
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cd18921
    Location:319393
    bHLHzip_SREBP1; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in sterol regulatory element-binding protein 1 (SREBP1) and similar proteins
    pfam03154
    Location:87210
    Atrophin-1; Atrophin-1 family
  4. NM_001388386.1NP_001375315.1  sterol regulatory element-binding protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC122129
    Related
    ENSP00000379106.2, ENST00000395757.6
    Conserved Domains (3) summary
    pfam05109
    Location:49320
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cd18921
    Location:319393
    bHLHzip_SREBP1; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in sterol regulatory element-binding protein 1 (SREBP1) and similar proteins
    pfam03154
    Location:87210
    Atrophin-1; Atrophin-1 family
  5. NM_001388387.1NP_001375316.1  sterol regulatory element-binding protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC122129
    Conserved Domains (3) summary
    pfam05109
    Location:49320
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cd18921
    Location:319393
    bHLHzip_SREBP1; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in sterol regulatory element-binding protein 1 (SREBP1) and similar proteins
    pfam03154
    Location:87210
    Atrophin-1; Atrophin-1 family
  6. NM_001388388.1NP_001375317.1  sterol regulatory element-binding protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC122129
    Conserved Domains (3) summary
    pfam05109
    Location:49320
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam03154
    Location:87210
    Atrophin-1; Atrophin-1 family
    cl00081
    Location:319378
    bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily
  7. NM_001388389.1NP_001375318.1  sterol regulatory element-binding protein 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC122129
    Conserved Domains (2) summary
    cd18921
    Location:317391
    bHLHzip_SREBP1; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in sterol regulatory element-binding protein 1 (SREBP1) and similar proteins
    pfam03154
    Location:87210
    Atrophin-1; Atrophin-1 family
  8. NM_001388390.1NP_001375319.1  sterol regulatory element-binding protein 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC122129
    Conserved Domains (3) summary
    pfam05109
    Location:49320
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cd18921
    Location:319387
    bHLHzip_SREBP1; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in sterol regulatory element-binding protein 1 (SREBP1) and similar proteins
    pfam03154
    Location:87210
    Atrophin-1; Atrophin-1 family
  9. NM_001388391.1NP_001375320.1  sterol regulatory element-binding protein 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC122129
    Conserved Domains (3) summary
    pfam05109
    Location:49320
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cd18921
    Location:319384
    bHLHzip_SREBP1; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in sterol regulatory element-binding protein 1 (SREBP1) and similar proteins
    pfam03154
    Location:87210
    Atrophin-1; Atrophin-1 family
  10. NM_001388392.1NP_001375321.1  sterol regulatory element-binding protein 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC122129
    Conserved Domains (2) summary
    pfam03154
    Location:87210
    Atrophin-1; Atrophin-1 family
    cl00081
    Location:267319
    bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily
  11. NM_001388393.1NP_001375322.1  sterol regulatory element-binding protein 1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC122129
    Conserved Domains (3) summary
    pfam05109
    Location:49320
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cd18921
    Location:319393
    bHLHzip_SREBP1; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in sterol regulatory element-binding protein 1 (SREBP1) and similar proteins
    pfam03154
    Location:87210
    Atrophin-1; Atrophin-1 family
  12. NM_001388394.1NP_001375323.1  sterol regulatory element-binding protein 1 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC122129
    Conserved Domains (1) summary
    cd18921
    Location:175249
    bHLHzip_SREBP1; basic Helix-Loop-Helix-zipper (bHLHzip) domain found in sterol regulatory element-binding protein 1 (SREBP1) and similar proteins
  13. NM_004176.5NP_004167.3  sterol regulatory element-binding protein 1 isoform 2

    See identical proteins and their annotated locations for NP_004167.3

    Status: REVIEWED

    Source sequence(s)
    AC122129, BC026962, BC057388, BC063281, BQ025047
    Consensus CDS
    CCDS11189.1
    UniProtKB/Swiss-Prot
    P36956
    Related
    ENSP00000261646.5, ENST00000261646.11
    Conserved Domains (3) summary
    cd00083
    Location:321378
    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, ...
    cl25496
    Location:49320
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cl27975
    Location:87212
    EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)

RNA

  1. NR_170943.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC122129
  2. NR_170944.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC122129
  3. NR_170945.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC122129
  4. NR_170990.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC122129

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    17811334..17836986 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436580.1XP_047292536.1  sterol regulatory element-binding protein 1 isoform X1

  2. XM_047436581.1XP_047292537.1  sterol regulatory element-binding protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    17757927..17783669 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)