Ifitm5 interferon induced transmembrane protein 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ifitm5provided by MGI
Official Full Name: interferon induced transmembrane protein 5provided by MGI
Primary source: MGI:MGI:1934923
See related: Ensembl:ENSMUSG00000025489 AllianceGenome:MGI:1934923
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: Bril; DSPA1; Hrmp1; Hrtm1; 1110003J06Rik
Summary: Involved in bone mineralization; bone morphogenesis; and in utero embryonic development. Located in plasma membrane. Is expressed in several structures, including bone; genitourinary system; limb cartilage condensation; perichondrium; and spleen. Used to study osteogenesis imperfecta type 5. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 5. Orthologous to human IFITM5 (interferon induced transmembrane protein 5). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in limb E14.5 (RPKM 9.7), lung adult (RPKM 2.0) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F5; 7 86.17 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (140528871..140530156, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (140948958..140950243, complement)

Chromosome 7 - NC_000073.7 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?

The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.
Title: The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.
Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C > T mutation.
Title: Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C > T mutation.
IFITM5 was expressed in the dental follicle and the developing alveolar bone
Title: Inhibitory effect of IFITM5 on cementoblast differentiation is associated with Wnt signaling.
results suggest that expression of mutant IFITM5 causes abnormal skeletal development, low bone mass, and abnormal osteoblast differentiation
Title: A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation.
The purpose of the current study was to re-assess the topology, localization, and biochemical properties of BRIL and compare it to the osteogenesis imperfecta type V mutant in MC3T3 osteoblasts.
Title: Topological mapping of BRIL reveals a type II orientation and effects of osteogenesis imperfecta mutations on its cellular destination.
These results indicate that the S-palmitoylation on IFITM5 promotes the interaction with FKBP11.
Title: Role of S-palmitoylation on IFITM5 for the interaction with FKBP11 in osteoblast cells.
Key roles for the Sp members and GLI2 that possibly cooperate to activate Bril when the promoter becomes demethylated.
Title: Regulation of the bone-restricted IFITM-like (Bril) gene transcription by Sp and Gli family members and CpG methylation.
Natural antisense transcripts enhance bone formation by increasing sense IFITM5 transcription.
Title: Natural antisense transcripts enhance bone formation by increasing sense IFITM5 transcription.
Ifitm5 deficiency might have a greater effect on prenatal bone development.
Title: Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice.
these results suggest that IFITM5 is involved not only in bone formation, but also in immune system activity.
Title: Osteoblast-enriched membrane protein IFITM5 regulates the association of CD9 with an FKBP11-CD81-FPRP complex and stimulates expression of interferon-induced genes.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

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

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in bone mineralization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone mineralization	ISO Inferred from Sequence Orthology more info
involved_in bone morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	TAS Traceable Author Statement more info	PubMed
involved_in regulation of bone mineralization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: interferon-induced transmembrane protein 5

Names: bone-restricted interferon induced transmembrane protein-like protein; dispanin subfamily A member 1; fragilis family member 4; haemopoiesis related membrane protein 1

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.