About   Help   FAQ
Obsl1 Gene Detail
Summary
  • Symbol
    Obsl1
  • Name
    obscurin-like 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2138628
    NCBI Gene: 98733
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
  • Regulated by
    Rr365 (1 regulatory region)
Location &
Maps
more
  • Sequence Map
    Chr1:75462469-75483134 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 39.15 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    532 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2138628
 protein coding gene Chr1:75455954-75483134 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016190
 protein coding gene Chr1:76057121-76085862 (-)
A/J MGP_AJ_G0016173
 protein coding gene Chr1:73403396-73431784 (-)
AKR/J MGP_AKRJ_G0016130
 protein coding gene Chr1:75437320-75468489 (-)
BALB/cJ MGP_BALBcJ_G0016128
 protein coding gene Chr1:73465993-73493674 (-)
C3H/HeJ MGP_C3HHeJ_G0015959
 protein coding gene Chr1:75770226-75797549 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016581
 protein coding gene Chr1:79011280-79040046 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014302
 protein coding gene Chr1:68962471-68989647 (-)
CAST/EiJ MGP_CASTEiJ_G0015543
 protein coding gene Chr1:75115221-75144390 (-)
CBA/J MGP_CBAJ_G0015932
 protein coding gene Chr1:81588801-81622957 (-)
DBA/2J MGP_DBA2J_G0016033
 protein coding gene Chr1:72722732-72749841 (-)
FVB/NJ MGP_FVBNJ_G0016036
 protein coding gene Chr1:71928895-71957586 (-)
LP/J MGP_LPJ_G0016105
 protein coding gene Chr1:77184441-77213602 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016056
 protein coding gene Chr1:84923333-84955134 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016628
 protein coding gene Chr1:75507210-75534915 (-)
PWK/PhJ MGP_PWKPhJ_G0015330
 protein coding gene Chr1:72199290-72226321 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015108
 protein coding gene Chr1:74862971-74890568 (-)
WSB/EiJ MGP_WSBEiJ_G0015605
 protein coding gene Chr1:75316779-75345403 (-)



Homology
more
  • Human Ortholog
    OBSL1, obscurin like cytoskeletal adaptor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OBSL1, obscurin like cytoskeletal adaptor 1
  • Links
    NCBI Gene ID: 23363
    UniProt: O75147

  • Chr Location
    2q35; chr2:219547206-219571859 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human OBSL1 associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 2 alleles in 1 genetic background
    11 phenotypes from multigenic genotypes
    27 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 are embryonic lethal.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    6
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
    708
  • Tissues
    1
  • cDNA Data
    72
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 98733 NCBI Gene Model | MGI Sequence Detail 20666 C57BL/6J ±  kb
    transcript NM_001403113 RefSeq | MGI Sequence Detail 6046 C57BL/6  
    polypeptide D3YYU8 UniProt | EBI | MGI Sequence Detail 1804 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 76
      Genomic 1
      cDNA 73
      Other 2

      Microarray probesets 8
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 6
      Phenotypes 27
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:364230 Fujita K, et al., Combined Loss of Obsc and Obsl1 in Murine Hearts Results in Diastolic Dysfunction, Altered Metabolism, and Deregulated Mitophagy. Circ Heart Fail. 2025 Mar 11;:e011867
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    10/07/2025
    MGI 6.24     		The Jackson Laboratory