Ostm1 (osteopetrosis associated transmembrane protein 1) - Rat Genome Database

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Gene: Ostm1 (osteopetrosis associated transmembrane protein 1) Mus musculus
Analyze
Symbol: Ostm1
Name: osteopetrosis associated transmembrane protein 1
RGD ID: 1621630
MGI Page MGI
Description: Acts upstream of or within osteoclast differentiation. Located in cytosol. Is expressed in several structures, including alimentary system; hemolymphoid system gland; nervous system; skeleton; and skin. Used to study autosomal recessive osteopetrosis 5. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 5. Orthologous to human OSTM1 (osteoclastogenesis associated transmembrane protein 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 1200002H13Rik; AW123348; chloride channel 7 beta subunit; g; gl; grey lethal osteopetrosis; grey lethal osteroperosis; grey-lethal protein; HSPC0; HSPC019; osteopetrosis-associated transmembrane protein 1
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391042,554,912 - 42,578,458 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1042,459,818 - 42,578,455 (+)EnsemblGRCm39 Ensembl
GRCm381042,678,916 - 42,702,462 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1042,583,822 - 42,702,459 (+)EnsemblGRCm38mm10GRCm38
MGSCv371042,398,723 - 42,422,261 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361042,367,332 - 42,390,870 (+)NCBIMGSCv36mm8
Celera1043,546,113 - 43,569,890 (+)NCBICelera
Cytogenetic Map10B2NCBI
cM Map1022.89NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. Mouse MP Annotation Import Pipeline RGD automated import pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1105786   PMID:1155801   PMID:1198094   PMID:1912584   PMID:4336559   PMID:5362475   PMID:8889548   PMID:10051318   PMID:10349636   PMID:11042159   PMID:11076861   PMID:11217851  
PMID:11344051   PMID:11707774   PMID:12466851   PMID:12477932   PMID:12627228   PMID:13162938   PMID:15489334   PMID:15761851   PMID:16141072   PMID:16141073   PMID:16525474   PMID:16813530  
PMID:17105730   PMID:18790735   PMID:20430974   PMID:20562862   PMID:21107136   PMID:21267068   PMID:21677750   PMID:21873635   PMID:21982707   PMID:23160729   PMID:23389033   PMID:24719316  
PMID:24820037   PMID:25359771   PMID:26273529   PMID:26598607   PMID:29297601   PMID:32554809   PMID:32764302   PMID:33484096   PMID:34321664   PMID:35216187   PMID:35434560  


Genomics

Comparative Map Data
Ostm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391042,554,912 - 42,578,458 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1042,459,818 - 42,578,455 (+)EnsemblGRCm39 Ensembl
GRCm381042,678,916 - 42,702,462 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1042,583,822 - 42,702,459 (+)EnsemblGRCm38mm10GRCm38
MGSCv371042,398,723 - 42,422,261 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361042,367,332 - 42,390,870 (+)NCBIMGSCv36mm8
Celera1043,546,113 - 43,569,890 (+)NCBICelera
Cytogenetic Map10B2NCBI
cM Map1022.89NCBI
OSTM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386108,041,409 - 108,074,741 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6108,029,245 - 108,165,854 (-)EnsemblGRCh38hg38GRCh38
GRCh376108,362,613 - 108,395,945 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366108,469,306 - 108,502,634 (-)NCBINCBI36Build 36hg18NCBI36
Build 346108,469,305 - 108,502,634NCBI
Celera6109,109,095 - 109,142,438 (-)NCBICelera
Cytogenetic Map6q21NCBI
HuRef6105,930,856 - 105,964,198 (-)NCBIHuRef
CHM1_16108,625,219 - 108,658,570 (-)NCBICHM1_1
T2T-CHM13v2.06109,218,461 - 109,251,819 (-)NCBIT2T-CHM13v2.0
Ostm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82047,653,696 - 47,769,248 (+)NCBIGRCr8
mRatBN7.22046,071,657 - 46,187,049 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2046,153,075 - 46,187,023 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2047,870,532 - 47,904,458 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02047,520,687 - 47,554,613 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02048,212,885 - 48,246,518 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02047,394,979 - 47,430,304 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2047,395,014 - 47,430,284 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02049,062,739 - 49,092,292 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2053,793,629 - 53,820,512 (-)NCBICelera
Cytogenetic Map20q13NCBI
Ostm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541133,171,264 - 33,205,486 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541133,168,868 - 33,205,452 (-)NCBIChiLan1.0ChiLan1.0
OSTM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25128,047,882 - 128,080,071 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16125,938,015 - 125,970,220 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06105,842,261 - 105,874,429 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16109,705,522 - 109,738,691 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6109,705,519 - 109,738,691 (-)Ensemblpanpan1.1panPan2
OSTM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11265,085,456 - 65,120,827 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1265,087,243 - 65,120,832 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1264,901,693 - 64,936,804 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01265,961,124 - 65,996,247 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1265,961,124 - 65,996,266 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11265,317,035 - 65,352,393 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01265,162,813 - 65,198,133 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01265,436,313 - 65,471,416 (-)NCBIUU_Cfam_GSD_1.0
Ostm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946100,026,706 - 100,057,222 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365644,301,569 - 4,332,070 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OSTM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl174,139,330 - 74,181,084 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1174,139,326 - 74,181,165 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2183,410,028 - 83,451,815 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OSTM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11365,774,825 - 65,812,606 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1365,774,844 - 65,809,272 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604038,103,051 - 38,151,291 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ostm1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478014,212,762 - 14,247,994 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478014,212,803 - 14,247,818 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Ostm1
575 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1054
Count of miRNA genes:636
Interacting mature miRNAs:787
Transcripts:ENSMUST00000040718, ENSMUST00000105497, ENSMUST00000144806, ENSMUST00000147899, ENSMUST00000154048
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
13208561Wght8_mweight 8 (mouse)10495000043875996Mouse
1302092Ath11_matherosclerosis 11 (mouse)Not determined10615194558693521Mouse
1357740Obsty3_mobesity 3 (mouse)Not determined108235478116190980Mouse
1301448Pas11_mpulmonary adenoma susceptibility 11 (mouse)Not determined10989026443890391Mouse
1301129Alcp15_malcohol preference locus 15 (mouse)Not determined10989026443890391Mouse
1302133Alcp16_malcohol preference locus 16 (mouse)Not determined10989026443890391Mouse
1301386Sysbp1_msystolic blood pressure 1 (mouse)Not determined101010826587401095Mouse
1357825Kidpq2_mkidney weight percentage QTL 2 (mouse)Not determined101270405184079784Mouse
1357656Hrtq3_mheart weight QTL 3 (mouse)Not determined101270405184079784Mouse
1357864Scfpq1_msubcutaneous fat pad percentage QTL 1 (mouse)Not determined101270405184079784Mouse
39128215Lwq17_mliver weight QTL 17 (mouse)101270405184079784Mouse
4141956Egq7_mearly growth QTL 7 (mouse)Not determined1270405184079784Mouse
4141943W6q6_mweight 6 weeks QTL 6 (mouse)Not determined1270405184079784Mouse
4142272W10q5_mweight 10 weeks QTL 5 (mouse)Not determined1270405184079784Mouse
4142380W3q11_mweight 3 weeks QTL 11 (mouse)Not determined1270405184079784Mouse
1302067Scc9_mcolon tumor susceptibility 9 (mouse)Not determined1018259333125575232Mouse
27226772Tibl13_mtibia length 13, 10 week (mouse)1018875748129635869Mouse
10755518Chol16_mcholesterol 16 (mouse)101891504352915043Mouse
1302160Mbis2_mMycobacterium bovis-induced systemic lupus erythematosus 2 (mouse)Not determined102028318556031223Mouse
1558757Eae34_mexperimental allergic encephalomyelitis susceptibility 34 (mouse)Not determined1021408154114217230Mouse
1301003Lmblgq4_mlimb length QTL 4 (mouse)Not determined102159119268091639Mouse
26884394Humsd3_mhumerus midshaft diameter 3, 10 week (mouse)102237589951076096Mouse
26884403Cvht8_mcranial vault height 8, 16 week (mouse)102287589991035862Mouse
26884426Cvht1_mcranial vault height 1, 5 week (mouse)1024675898121035905Mouse
4142209Psrs1_mpsoriasis susceptibility 1 (mouse)Not determined102689026446720483Mouse
1300898Cfid_mcystic fibrosis intestinal distress (mouse)Not determined102972040363720483Mouse
10045632Heal16_mwound healing/regeneration 16 (mouse)Not determined103097449964974630Mouse
1357558Bmch4_mbone mechanical trait 4 (mouse)Not determined103157713665577284Mouse
27095920Pglq9_mpelvic girdle length QTL 9, 10 week (mouse)103377599670835830Mouse
27095911Pglq15_mpelvic girdle length QTL 15, 16 week (mouse)1039175996129635869Mouse
27226764Tibl19_mtibia length 19, 16 week (mouse)1039175996129635869Mouse
21079434Bdym5_mbody mass QTL 5 (mouse)104054599654836096Mouse
4141070Ltgq1_mliver triglyceride QTL 1 (mouse)Not determined4123732675237326Mouse

Markers in Region
G64311  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381042,701,132 - 42,701,422UniSTSGRCm38
MGSCv371042,420,938 - 42,421,228UniSTSGRCm37
Celera1043,568,567 - 43,568,857UniSTS
Cytogenetic Map10B2UniSTS
cM Map1029.0UniSTS
AW123348  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381042,702,178 - 42,702,267UniSTSGRCm38
MGSCv371042,421,984 - 42,422,073UniSTSGRCm37
Celera1043,569,613 - 43,569,702UniSTS
Cytogenetic Map10B2UniSTS
cM Map1029.0UniSTS
Whitehead/MRC_RH10516.7UniSTS
Ostm1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10B2UniSTS
cM Map1029.0UniSTS


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSMUST00000040718   ⟹   ENSMUSP00000035516
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1042,554,912 - 42,578,455 (+)Ensembl
GRCm38.p6 Ensembl1042,678,916 - 42,702,459 (+)Ensembl
RefSeq Acc Id: ENSMUST00000105497   ⟹   ENSMUSP00000101136
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1042,459,831 - 42,574,319 (+)Ensembl
GRCm38.p6 Ensembl1042,583,835 - 42,698,323 (+)Ensembl
RefSeq Acc Id: ENSMUST00000144806   ⟹   ENSMUSP00000116534
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1042,459,834 - 42,576,488 (+)Ensembl
GRCm38.p6 Ensembl1042,583,838 - 42,700,492 (+)Ensembl
RefSeq Acc Id: ENSMUST00000147899
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1042,459,818 - 42,460,727 (+)Ensembl
GRCm38.p6 Ensembl1042,583,822 - 42,584,731 (+)Ensembl
RefSeq Acc Id: ENSMUST00000154048
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1042,554,962 - 42,575,987 (+)Ensembl
GRCm38.p6 Ensembl1042,678,966 - 42,699,991 (+)Ensembl
RefSeq Acc Id: NM_172416   ⟹   NP_766004
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391042,554,912 - 42,578,458 (+)NCBI
GRCm381042,678,916 - 42,702,462 (+)ENTREZGENE
MGSCv371042,398,723 - 42,422,261 (+)RGD
Celera1043,546,112 - 43,569,897 (+)ENTREZGENE
cM Map10 ENTREZGENE
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_766004   ⟸   NM_172416
- Peptide Label: precursor
- UniProtKB: Q8BGT0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000116534   ⟸   ENSMUST00000144806
RefSeq Acc Id: ENSMUSP00000101136   ⟸   ENSMUST00000105497
RefSeq Acc Id: ENSMUSP00000035516   ⟸   ENSMUST00000040718

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8BGT0-F1-model_v2 AlphaFold Q8BGT0 1-338 view protein structure

Promoters
RGD ID:6819337
Promoter ID:MM_KWN:4020
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:OTTMUST00000046478,   UC007EYU.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361042,398,534 - 42,399,034 (+)MPROMDB
RGD ID:8671898
Promoter ID:EPDNEW_M13980
Type:initiation region
Name:Ostm1_1
Description:Mus musculus osteopetrosis associated transmembrane protein 1, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381042,678,937 - 42,678,997EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2655574 AgrOrtholog
Ensembl Genes ENSMUSG00000038280 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000040718 ENTREZGENE
  ENSMUST00000040718.6 UniProtKB/Swiss-Prot
  ENSMUST00000105497.8 UniProtKB/TrEMBL
  ENSMUST00000144806.8 UniProtKB/TrEMBL
InterPro Osteopetrosis-assoc_TM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:14628 UniProtKB/Swiss-Prot
MGD MGI:2655574 ENTREZGENE
NCBI Gene 14628 ENTREZGENE
PANTHER OSTEOPETROSIS-ASSOCIATED TRANSMEMBRANE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15644 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam OSTMP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Ostm1 PhenoGen
UniProt D3Z4W7_MOUSE UniProtKB/TrEMBL
  D3Z790_MOUSE UniProtKB/TrEMBL
  OSTM1_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE