ENSMUSG00000038280


Mus musculus

Features
Gene ID: ENSMUSG00000038280
  
Biological name :Ostm1
  
Synonyms : Osteopetrosis-associated transmembrane protein 1 / Ostm1 / Q8BGT0
  
Possible biological names infered from orthology : Q86WC4
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: B2
Gene start: 42583822
Gene end: 42702459
  
Corresponding Affymetrix probe sets: 10362829 (MoGene1.0st)   1428334_at (Mouse Genome 430 2.0 Array)   1438521_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000035516
Ensembl peptide - ENSMUSP00000116534
Ensembl peptide - ENSMUSP00000101136
NCBI entrez gene - 14628     See in Manteia.
MGI - MGI:2655574
RefSeq - NM_172416
RefSeq Peptide - NP_766004
swissprot - D3Z790
swissprot - D3Z4W7
swissprot - Q8BGT0
Ensembl - ENSMUSG00000038280
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ostm1ENSDARG00000069808Danio rerio
 OSTM1ENSGALG00000015306Gallus gallus
 OSTM1ENSG00000081087Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR019172  Osteopetrosis-associated transmembrane protein 1 precursor


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0030316 osteoclast differentiation IMP
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000063 reduced bone density "decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
Show

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0000064 failure of secondary bone resorption "inability of osteoclasts to degrade the organic and inorganic phases of bone by absorption" [J:67040, J:61295]
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Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

 MP:0000067 osteopetrosis "excessive formation of dense trabecular bone and excessive calcified cartilage formation; may lead to anemia and extramedullary hematopoiesis " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0000121 failure of tooth eruption "inability of the teeth to grow into the oral cavity" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61295]
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Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0000125 absent incisors "missing long pointed teeth; most anterior and prominent in the jaw" [J:17489]
Show

Allelic Composition: Ostm1gl/Ostm1om
Genetic Background: involves: C3HeB/FeJ

 MP:0000130 abnormal cancellous bone morphology "structural anomaly of bone that has a latticelike or spongy structure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0000150 abnormal rib morphology "malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]
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Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0000183 decreased circulating LDL cholesterol level "less than average concentration in the blood of low density lipoprotein, which normally transports cholesterol to tissues other than the liver" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
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Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

 MP:0000455 abnormal maxilla morphology "malformation of the upper bony framework of the mouth where the superior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0000559 abnormal femur morphology "structural anomaly of the long bone of the thigh" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0001290 delayed eyelid opening "late average time for the first postnatal eye opening" [J:17792]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

 MP:0001851 eye inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the eye" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

 MP:0002075 abnormal coat color "irregular or unusual pigmentation pattern of the hair in relation to control animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

Allelic Composition: Ostm1gl/Ostm1om
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

Allelic Composition: Ostm1gl/Ostm1om
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0002113 abnormal skeleton development "anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

 MP:0002644 decreased circulating triglyceride level "lower than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0002689 abnormal molar morphology "structural defect of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface" [il:Ira Lu , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0002874 decreased hemoglobin content "decrease in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0002968 increased circulating alkaline phosphatase level "elevated activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0003109 short femur "reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0003723 abnormal long bone morphology "malformation of any of the several elongated bones of the extremities " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0003797 abnormal compact bone morphology "structural anomaly of the outer layers of solid, hard bone that covers spongy bone; consists of parallel osteons containing mineral deposits and interstitial lamellae" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0003932 abnormal molar crown morphology "defects in the upper part of the molar, which is normally covered with enamel " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

 MP:0003961 decreased lean body mass "less than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]
Show

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0004353 abnormal deltoid tuberosity morphology "any structural anomaly of a rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0004830 short incisors "reduced length of the long pointed teeth; most anterior and prominent in the jaw" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

 MP:0005358 abnormal incisor morphology "structural defect of the long pointed teeth; most anterior and prominent in the jaw" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85574]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0008274 failure of bone ossification "failure to initiate or a block in the process of the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [GO:0001503]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0011084 partial lethality at weaning "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age" [MGI:csmith]
Show

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0030089 short lower incisors "reduced length of the lower set of long teeth that are the most anterior and prominent in the jaw" [MGI:anna]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

 MP:0030236 abnormal mental foramen morphology "any structural anomaly of the small opening located on the anterior surface of the mandible; the mental nerve, a terminal branch of inferior alveolar nerve, and the mental artery leave the mandibular canal through it" [https://radiopaedia.org/articles/mental-foramen-1]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

 MP:0030302 abnormal maxillary zygomatic process morphology "any structural anomaly of the rough triangular eminence situated at the angle of separation of the anterior, zygomatic, and orbital surfaces; in front, it forms part of the anterior surface; behind, it is concave, and forms part of the infratemporal fossa; above, it is rough and serrated for articulation with the zygomatic bone; below, it presents the prominent arched border which marks the division between the anterior and infratemporal surfaces" [https://en.wikipedia.org/wiki/Zygomatic_process_of_maxilla]
Show

Allelic Composition: Ostm1om/Ostm1om
Genetic Background: C3HeB/FeJ-Ostm1om

 MP:0030451 abnormal dentin mineralization "anomaly in the process by which calcium salts are deposited into dentin" [GO:0097188]
Show

Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

 MP:0030494 abnormal molar root morphology "any structural anomaly of the part of a molar tooth that is implanted in the gum" [MGI:anna]
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Allelic Composition: Traf2tm1Mak/Traf2tm1Mak
Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6J)

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000036636 Clcn7 / O70496 / H(+)/Cl(-) exchange transporter 7 / P51798* / chloride voltage-gated channel 7*  / complex






 

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