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Ostm1 Gene Detail
Summary
  • Symbol
    Ostm1
  • Name
    osteopetrosis associated transmembrane protein 1
  • Synonyms
    1200002H13Rik, gl, HSPC019
  • Feature Type
    protein coding gene
  • IDs
    MGI:2655574
    NCBI Gene: 14628
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:42554912-42578458 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 22.89 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    915 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2655574
 protein coding gene Chr10:42459818-42578458 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017187
 protein coding gene Chr10:41307985-41429515 (+)
A/J MGP_AJ_G0017164
 protein coding gene Chr10:40142001-40267032 (+)
AKR/J MGP_AKRJ_G0017124
 protein coding gene Chr10:40752557-40877773 (+)
BALB/cJ MGP_BALBcJ_G0017126
 protein coding gene Chr10:40204082-40324725 (+)
C3H/HeJ MGP_C3HHeJ_G0016947
 protein coding gene Chr10:41096782-41227325 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017585
 protein coding gene Chr10:42554987-42688317 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015281
 protein coding gene Chr10:37997642-38123308 (+)
CAST/EiJ MGP_CASTEiJ_G0016526
 protein coding gene Chr10:41289554-41437790 (+)
CBA/J MGP_CBAJ_G0016921
 protein coding gene Chr10:44525696-44690750 (+)
DBA/2J MGP_DBA2J_G0017026
 protein coding gene Chr10:39623543-39753683 (+)
FVB/NJ MGP_FVBNJ_G0017021
 protein coding gene Chr10:39118738-39242675 (+)
LP/J MGP_LPJ_G0017103
 protein coding gene Chr10:41296853-41438253 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017051
 protein coding gene Chr10:45255402-45393415 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017622
 protein coding gene Chr10:40732214-40861025 (+)
PWK/PhJ MGP_PWKPhJ_G0016306
 protein coding gene Chr10:39497441-39632593 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016090
 protein coding gene Chr10:40557175-40692832 (+)
WSB/EiJ MGP_WSBEiJ_G0016589
 protein coding gene Chr10:41034594-41167365 (+)



Homology
more
  • Human Ortholog
    OSTM1, osteoclastogenesis associated transmembrane protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OSTM1, osteoclastogenesis associated transmembrane protein 1
  • Synonyms
    GIPN, GL, HSPC019, OPTB5
  • Links
    NCBI Gene ID: 28962
    neXtProt AC: NX_Q86WC4
    UniProt: Q86WC4

  • Chr Location
    6q21; chr6:108029245-108165854 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ostm1 mouse models; 1 with human OSTM1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
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
    41 phenotypes from 2 alleles in 3 genetic backgrounds
    1 images
    38 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.
A model for osteopetrosis, mice homozygous for mutations of this gene display osteogenic abnormalities, including failure of tooth eruption. Mutants also have abnormal coat color as well as a reduced life span.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • 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
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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
    764
  • Tissues
    34
  • cDNA Data
    50
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14628 NCBI Gene Model | MGI Sequence Detail 23547 C57BL/6J ±  kb
    transcript NM_172416 RefSeq | MGI Sequence Detail 3009 ZRU/MplStud  
    polypeptide Q8BGT0 UniProt | EBI | MGI Sequence Detail 338 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000012068 osteopetrosis-associated transmembrane protein 1
      (term hierarchy)
    • InterPro Domains
      IPR019172 Osteopetrosis-associated transmembrane protein 1 precursor
    • GlyGen
      Q8BGT0 10 sites, 10 N-linked glycans (6 sites)
    Molecular
    Reagents
    less
    • All nucleic 52
      Genomic 1
      cDNA 50
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10102, MGI:1921359, MGI:2143814, MGI:95725
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 6
      Phenotypes 38
    • Earliest
      J:15551 Gruneberg H, A new sub-lethal colour mutation in the house mouse. Proc R Soc Lond B Biol Sci. 1935;118:321-42
    • Latest
      J:323870 Mutabaruka MS, et al., A Foxo1-Klf2-S1pr1-Gnai1-Rac1 signaling axis is a critical mediator of Ostm1 regulatory network in T lymphopoiesis. iScience. 2022 Apr 15;25(4):104160
    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
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory