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Bmal1 Gene Detail
Summary
  • Symbol
    Bmal1
  • Name
    basic helix-loop-helix ARNT like 1
  • Synonyms
    Arnt3, Arntl, bHLHe5, MOP3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1096381
    NCBI Gene: 11865
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:112806672-112913333 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 59.17 cM, cytoband F2-F3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2708 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_1096381
 protein coding gene Chr7:112777820-112913333 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032873
 protein coding gene Chr7:116831211-116953793 (+)
A/J MGP_AJ_G0032856
 protein coding gene Chr7:113891756-114004807 (+)
AKR/J MGP_AKRJ_G0032788
 protein coding gene Chr7:116768398-116878003 (+)
BALB/cJ MGP_BALBcJ_G0032861
 protein coding gene Chr7:113595539-113711648 (+)
C3H/HeJ MGP_C3HHeJ_G0032571
 protein coding gene Chr7:116767055-116876733 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033367
 protein coding gene Chr7:121567941-121685673 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030339
 protein coding gene Chr7:115482448-115585066 (+)
CAST/EiJ MGP_CASTEiJ_G0031899
 protein coding gene Chr7:108384946-108502432 (+)
CBA/J MGP_CBAJ_G0032544
 protein coding gene Chr7:125594989-125714031 (+)
DBA/2J MGP_DBA2J_G0032696
 protein coding gene Chr7:111982902-112084164 (+)
FVB/NJ MGP_FVBNJ_G0032649
 protein coding gene Chr7:111826563-111940780 (+)
LP/J MGP_LPJ_G0032790
 protein coding gene Chr7:118335229-118453602 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032681
 protein coding gene Chr7:127173808-127288484 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033387
 protein coding gene Chr7:115771373-115877454 (+)
PWK/PhJ MGP_PWKPhJ_G0031606
 protein coding gene Chr7:104826783-104934606 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031454
 protein coding gene Chr7:102550883-102656529 (+)
WSB/EiJ MGP_WSBEiJ_G0032012
 protein coding gene Chr7:116639493-116753843 (+)



Homology
more
  • Human Ortholog
    BMAL1, basic helix-loop-helix ARNT like 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BMAL1, basic helix-loop-helix ARNT like 1
  • Synonyms
    ARNTL, ARNTL1, bHLHe5, BMAL1c, JAP3, MOP3, PASD3, TIC
  • Links
    NCBI Gene ID: 406
    neXtProt AC: NX_O00327
    UniProt: O00327

  • Chr Location
    11p15.3; chr11:13276652-13387266 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Bmal1 mouse models; 2 with human BMAL1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    162 phenotypes from 10 alleles in 17 genetic backgrounds
    2 phenotypes from multigenic genotypes
    6 images
    385 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.
Homozygous mutation of this gene results in abnormal light/dark cycle activity and decreases overall activity levels. Mice homozygous for another knock-out allele exhibit loss of circadian rhythm in locomotor activity, dyslipidemia, ectopic fat formationand altered energy homeostasis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    126
  • GO References
    89
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
    1234
  • Tissues
    168
  • cDNA Data
    51
  • Literature Summary
    25
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000055116 Ensembl Gene Model | MGI Sequence Detail 106662 C57BL/6J ±  kb
    transcript ENSMUST00000211770 Ensembl | MGI Sequence Detail 2464 Not Applicable  
    polypeptide ENSMUSP00000147823 Ensembl | MGI Sequence Detail 633 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 59
      cDNA 52
      Primer pair 6
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:7413981
    References
    more
    • Summaries
      All 598
      Developmental Gene Expression 25
      Diseases 1
      Gene Ontology 89
      Phenotypes 385
    • Earliest
      J:47665 Hogenesch JB, et al., The basic-helix-loop-helix-PAS orphan MOP3 forms transcriptionally active complexes with circadian and hypoxia factors. Proc Natl Acad Sci U S A. 1998 May 12;95(10):5474-9
    • Latest
      J:357381 Mortimer T, et al., The epidermal circadian clock integrates and subverts brain signals to guarantee skin homeostasis. Cell Stem Cell. 2024 Apr 27;
    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