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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ostm1

Human homologs

Human Homolog		OSTM1, osteopetrosis associated transmembrane protein 1
NCBI Gene ID		28962
neXtProt AC		NX_Q86WC4
Human Synonyms		GIPN, GL, OPTB5
Human Chr (Location)		6q21; chr6:108362613-108395941 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human OSTM1

Alleles and phenotypes

All alleles(3) : Targeted(2) Spontaneous(1)
 

A model for osteopetrosis, mice homozygous for the grey-lethal mutation display osteogenic abnormalities, including failure of tooth eruption. Mutants also have abnormal coat color as well as a reduced life span.

 
Human Diseases Modeled Using Mouse Ostm1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (6 annotations)

Process	osteoclast differentiation
Component	cytosol, integral to membrane, ...
Function	protein binding

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (60)    Tissues (28)    Images (9)
Theiler Stages: 20, 23, 26, 28

Assay Type	Results
RNA in situ	40
Northern blot	20

cDNA source data(51)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(53) Genomic(1) cDNA(51) 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 Knockout Project Status	Ostm1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000019462	VEGA Gene Model | MGI Sequence Detail	118638	C57BL/6J
transcript	OTTMUST00000046478	VEGA | MGI Sequence Detail	3006	Not Applicable
polypeptide	OTTMUSP00000020987	VEGA | MGI Sequence Detail	338	Not Applicable

All sequences(37) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(86 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:177648 Ferron M, et al., Inositol polyphosphate 4-phosphatase B as a regulator of bone mass in mice and humans. Cell Metab. 2011 Oct 5;14(4):466-77
All references(49)

Other accession IDs

MGD-MRK-10102, MGI:1921359, MGI:2143814, MGI:95725