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Ostm1
Gene Detail
Symbol

Name
ID
Ostm1
osteopetrosis associated transmembrane protein 1
MGI:2655574
Synonyms
1200002H13Rik, gl, HSPC019
Feature Type
protein coding gene
Genetic Map
Chromosome 10
22.89 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr10:42583822-42702459 bp, + strand
From VEGA annotation of GRCm38

  118638 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32203  Vertebrate Homology Class
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: Ostm1

Human
homologs
OSTM1, osteopetrosis associated transmembrane protein 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 28962
neXtProt AC: NX_Q86WC4

Human Synonyms: GIPN, GL, HSPC019, OPTB5

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

Disease Associations: (1) Diseases Associated with Human OSTM1

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Spontaneous(2) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled in Mice Using Ostm1 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Ostm1 interacts with 300 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process osteoclast differentiation
Component cytoplasm, cytosol, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (58)    Tissues (34)    Images (9)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 40
Northern blot 18
cDNA source data(49)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ostm1    NEW 
Molecular
reagents
All nucleic(51) Genomic(1) cDNA(49) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000019462 (Evidence)
Ensembl Gene Model ENSMUSG00000038280 (Evidence)
Entrez Gene 14628 (Evidence)
UniGene 46636
DFCI TC1577743
DoTS DT.489820, DT.91580223
NIA Mouse Gene Index U011448
Consensus CDS Project CCDS23814.1
International Mouse Phenotyping Consortium Status Ostm1
Sequences
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 sequences
All sequences(37) RefSeq(2) UniProt(3)
Polymorphisms
SNPs within 2kb(607 from dbSNP Build 137)    SNPs within 2kb including multiple locations(609)
Protein-related
information
ResourceIDDescription
InterPro IPR019172 Osteopetrosis-associated transmembrane protein 1 precursor
Protein Ontology PR:000012068 osteopetrosis-associated transmembrane protein 1
References
(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:214117 Heraud C, et al., Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency. J Biol Chem. 2014 May 16;289(20):13912-25
All references(51)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-10102, MGI:1921359, MGI:2143814, MGI:95725

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
07/21/2015
MGI 5.22
The Jackson Laboratory