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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
  • Gene Overview
    MyGene.info: OSTM1
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:42678916-42702462 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 22.89 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    183 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 Chr10:42583822-42702462 (.)
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
    10
  • Human Ortholog
    OSTM1, osteoclastogenesis associated transmembrane protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    GIPN, GL, HSPC019, OPTB5
  • Links
    NCBI Gene ID: 28962
    neXtProt AC: NX_Q86WC4
    UniProt: Q86WC4

  • Chr Location
    6q21; chr6:108041409-108074737 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 32203
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: OSTM1
  • Gene Tree
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
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  • Phenotype Summary
    40 phenotypes from 2 alleles in 3 genetic backgrounds
    1 images
    34 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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 C57BL/6  
    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
    • InterPro Domains
      IPR019172 Osteopetrosis-associated transmembrane protein 1 precursor
    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 56
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 3
      Phenotypes 34
    • 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:236140 Pandruvada SN, et al., Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking. Mol Cell Biol. 2015 Nov 23;36(3):507-21

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory