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Srebf1 Gene Detail
Summary
  • Symbol
    Srebf1
  • Name
    sterol regulatory element binding transcription factor 1
  • Synonyms
    ADD-1, bHLHd1, SREBP-1, SREBP1, SREBP-1a, SREBP-1c, SREBP1c
  • Feature Type
    protein coding gene
  • IDs
    MGI:107606
    NCBI Gene: 20787
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:60089915-60113407 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 37.81 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    510 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107606
 protein coding gene Chr11:60089910-60113407 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018413
 protein coding gene Chr11:60067856-60091358 (-)
A/J MGP_AJ_G0018382
 protein coding gene Chr11:57785940-57811425 (-)
AKR/J MGP_AKRJ_G0018352
 protein coding gene Chr11:59719458-59743223 (-)
BALB/cJ MGP_BALBcJ_G0018353
 protein coding gene Chr11:58130560-58154040 (-)
C3H/HeJ MGP_C3HHeJ_G0018166
 protein coding gene Chr11:59588435-59613330 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018805
 protein coding gene Chr11:61964707-61990548 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016451
 protein coding gene Chr11:55026244-55050878 (-)
CAST/EiJ MGP_CASTEiJ_G0017723
 protein coding gene Chr11:59730335-59753832 (-)
CBA/J MGP_CBAJ_G0018140
 protein coding gene Chr11:64686836-64716403 (-)
DBA/2J MGP_DBA2J_G0018249
 protein coding gene Chr11:57439593-57463976 (-)
FVB/NJ MGP_FVBNJ_G0018240
 protein coding gene Chr11:57108747-57132966 (-)
LP/J MGP_LPJ_G0018322
 protein coding gene Chr11:60671591-60695102 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018264
 protein coding gene Chr11:65754938-65779490 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018846
 protein coding gene Chr11:59748666-59773315 (-)
PWK/PhJ MGP_PWKPhJ_G0017494
 protein coding gene Chr11:58045659-58069468 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017286
 protein coding gene Chr11:59543192-59568940 (-)
WSB/EiJ MGP_WSBEiJ_G0017774
 protein coding gene Chr11:59424259-59447804 (-)



Homology
more
  • Human Ortholog
    SREBF1, sterol regulatory element binding transcription factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SREBF1, sterol regulatory element binding transcription factor 1
  • Synonyms
    bHLHd1, HMD, IFAP2, SREBP1
  • Links
    NCBI Gene ID: 6720
    neXtProt AC: NX_P36956
    UniProt: P36956

  • Chr Location
    17p11.2; chr17:17810399-17837002 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with human SREBF1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 4 alleles in 5 genetic backgrounds
    21 phenotypes from multigenic genotypes
    72 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele of transcript A die between E11.5 and E14.5. Mice homozygous for a knock-out allele of transcript C exhibit decreased circulating triglyceride levels. Mice homozygous for a gene trap allele exhibit decreased hepatictriglyceride storage.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    118
  • GO References
    34
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    967
  • Tissues
    171
  • cDNA Data
    283
  • Literature Summary
    34
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020538 Ensembl Gene Model | MGI Sequence Detail 23493 C57BL/6J ±  kb
    transcript ENSMUST00000020846 Ensembl | MGI Sequence Detail 4299 Not Applicable  
    polypeptide ENSMUSP00000020846 Ensembl | MGI Sequence Detail 1134 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000015611 sterol regulatory element-binding protein 1
      (term hierarchy)
    • InterPro Domains
      IPR036638 Helix-loop-helix DNA-binding domain superfamily
      IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
    • GlyGen
      Q9WTN3 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 292
      Genomic 1
      cDNA 285
      Primer pair 6

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-36180
    References
    more
    • Summaries
      All 267
      Developmental Gene Expression 34
      Diseases 3
      Gene Ontology 34
      Phenotypes 72
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:355268 Huang Y, et al., The role of KLF2 in regulating hepatic lipogenesis and blood cholesterol homeostasis via the SCAP/SREBP pathway. J Lipid Res. 2024 Jan;65(1):100472
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory