Ostm1 osteopetrosis associated transmembrane protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ostm1provided by MGI
Official Full Name: osteopetrosis associated transmembrane protein 1provided by MGI
Primary source: MGI:MGI:2655574
See related: Ensembl:ENSMUSG00000038280 AllianceGenome:MGI:2655574
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: gl; HSPC019; 1200002H13Rik
Summary: 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). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thymus adult (RPKM 21.2), adrenal adult (RPKM 15.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B2; 10 22.89 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (42554912..42578458)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (42678916..42702462)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neurosecretory Protein GL Accelerates Liver Steatosis in Mice Fed Medium-Fat/Medium-Fructose Diet.
Title: Neurosecretory Protein GL Accelerates Liver Steatosis in Mice Fed Medium-Fat/Medium-Fructose Diet.
Ostm1 from Mouse to Human: Insights into Osteoclast Maturation.
Title: Ostm1 from Mouse to Human: Insights into Osteoclast Maturation.
These studies defined bifunctional roles for Ostm1 as a major regulator of preosteoclast cytoskeletal rearrangements toward cell multinucleation and of mature osteoclast intracellular lysosomal trafficking and exocytosis mechanism, both of which are essential for bone resorption.
Title: Ostm1 Bifunctional Roles in Osteoclast Maturation: Insights From a Mouse Model Mimicking a Human OSTM1 Mutation.
KIF5B is essential for Ostm1 intracellular dispersion.
Title: Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.
Truncated OSTM1 significantly inhibited the expression of osteoclast marker genes through the down-regulation of the BLIMP1-NFATc1 axis.
Title: Secretion of a truncated osteopetrosis-associated transmembrane protein 1 (OSTM1) mutant inhibits osteoclastogenesis through down-regulation of the B lymphocyte-induced maturation protein 1 (BLIMP1)-nuclear factor of activated T cells c1 (NFATc1) axis.
Our in vivo structure-function analysis of ClC-7 reveals that both protein-protein interactions and ion transport must be considered in the pathogenesis of ClC-7-related diseases.
Title: Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions.
Ostm1 has a primary and autonomous role in neuronal homeostasis
Title: Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.
Omi is a recessive mutation in the Ostm1 gene affecting teeth and coat color.
Title: Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1.
Ostm1 is a bona fide target of miR-140, which is significantly decreased during adipogenic differentiation.
Title: MicroRNA-140 promotes adipocyte lineage commitment of C3H10T1/2 pluripotent stem cells via targeting osteopetrosis-associated transmembrane protein 1.
Neuropathologic changes similar to neuronal ceroid lipofuscinosis are found in osteoporosis associated transmembrane protein 1 (Ostml)-deficient mice.
Title: Distinct neuropathologic phenotypes after disrupting the chloride transport proteins ClC-6 or ClC-7/Ostm1.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (2) 1 citation
Targeted (2) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW123348 (e-PCR)
- UniSTS:165686

G64311 (e-PCR)
- UniSTS:186575

Ostm1 (e-PCR), detects polymorphism
- UniSTS:516077

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in osteoclast differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within osteoclast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transepithelial chloride transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of chloride channel complex	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: osteopetrosis-associated transmembrane protein 1

Names: chloride channel 7 beta subunit; grey lethal osteopetrosis

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.