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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
Location & Maps
more
  • Sequence Map
    Chr10:42583822-42702459 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      118638 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 22.89 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    OSTM1, osteopetrosis associated transmembrane protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    OSTM1, osteopetrosis associated transmembrane protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    GIPN, GL, HSPC019, OPTB5
  • Links
    NCBI Gene ID: 28962
    neXtProt AC: NX_Q86WC4

  • Chr Location
    6q21; chr6:108041409-108074737 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 32203
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • 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
       Osteopetrosis, Autosomal Recessive 5; OPTB5   OMIM: 259720 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
    36 phenotypes from 2 alleles in 3 genetic backgrounds
    1 images
    33 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.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Spontaneous
    2
  • Targeted
    2
  • Genomic Mutations
    2 involving Ostm1
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019462 VEGA Gene Model | MGI Sequence Detail 118638 C57BL/6J ±  kb
transcript OTTMUST00000046478 VEGA | MGI Sequence Detail 3006 Not Applicable  
polypeptide OTTMUSP00000020987 VEGA | MGI Sequence Detail 338 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    604 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000012068 osteopetrosis-associated transmembrane protein 1
  • InterPro Domains
    IPR019172 Osteopetrosis-associated transmembrane protein 1 precursor
Molecular
Reagents
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  • All nucleic 51
    Genomic 1
    cDNA 49
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-10102, MGI:1921359, MGI:2143814, MGI:95725
References
more
  • Summaries
    All 50
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 4
    Phenotypes 33
  • 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:227247 Brommage R, et al., High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes. Bone Res. 2014;2:14034

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory