Mgarp mitochondria localized glutamic acid rich protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mgarpprovided by MGI
Official Full Name: mitochondria localized glutamic acid rich proteinprovided by MGI
Primary source: MGI:MGI:1914999
See related: Ensembl:ENSMUSG00000037161 AllianceGenome:MGI:1914999
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: Osap; Qsap; HUMMR; CESP-1; 4930583H14Rik
Summary: Involved in several processes, including axonal transport; cellular response to hormone stimulus; and protein targeting to mitochondrion. Located in mitochondrion. Is integral component of mitochondrial outer membrane. Is expressed in adrenal gland; lens; midbrain ventricular layer; and retina. Orthologous to human MGARP (mitochondria localized glutamic acid rich protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in adrenal adult (RPKM 109.6), ovary adult (RPKM 93.2) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 3 C; 3 22.46 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (51295833..51303968, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (51388412..51396547, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

DNA methylation-mediated inhibition of MGARP is involved in impaired progeny testosterone synthesis in mice exposed to DBP in utero.
Title: DNA methylation-mediated inhibition of MGARP is involved in impaired progeny testosterone synthesis in mice exposed to DBP in utero.
The ratio of motile mitochondria was remarkably decreased in the axons of MGARP-overexpressing cells.
Title: MGARP regulates mouse neocortical development via mitochondrial positioning.
These results indicate that HUMMR does not play a key role in mitochondrial dysfunction in the APP/PS1 double transgenic Alzheimer disease mouse
Title: Hypoxia-up-regulated mitochondrial movement regulator does not contribute to the APP/PS1 double transgenic mouse model of Alzheimer's disease.
MGARP participates in hormone biosynthesis while being under the regulation of the hormones derived from the hypothalamic-pituitary-gonadal axis.
Title: The expression of a mitochondria-localized glutamic acid-rich protein (MGARP/OSAP) is under the regulation of the HPG axis.
Results identify a mitochondria-localized glutamic acid-rich protein (MGARP/OSAP) as one of the highly expressed proteins in retina [MGARP].
Title: A mitochondria-localized glutamic acid-rich protein (MGARP/OSAP) is highly expressed in retina that exhibits a large area of intrinsic disorder.
Results identify a novel mitochondria protein, hypoxia up-regulated mitochondrial movement regulator (HUMMR), which is expressed in neurons and is markedly induced by hypoxia-inducible factor 1 alpha (HIF-1alpha) [HUMMR].
Title: HUMMR, a hypoxia- and HIF-1alpha-inducible protein, alters mitochondrial distribution and transport.
HUMMR (Hypoxia Upregulated Mitochondrial Movement Regulator) is induced by HIF-1 and regulates mitochondrial distribution and movement in neurons during hypoxia
Title: HUMMR, a hypoxia- and HIF-1alpha-inducible protein, alters mitochondrial distribution and transport.
OSAP is prominently expressed in steroidogenic tissues; results suggest that OSAP is involved in steroidogenesis, potentially through its ability to maintain mitochondrial abundance and morphology
Title: Expression of ovary-specific acidic protein in steroidogenic tissues: a possible role in steroidogenesis.

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Variation

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Alleles

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

Targeted (2)
Endonuclease-mediated (1)

General gene information

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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 anterograde axonal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonal transport of mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to gonadotropin-releasing hormone	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to steroid hormone stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of dendrite development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein targeting to mitochondrion	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde axonal transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein MGARP

Names: corneal endothelium-specific protein 1; hypoxia up-regulated mitochondrial movement regulator protein; ovary-specific acidic protein

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.

mRNA and Protein(s)

NM_026358.3 → NP_080634.2 protein MGARP

See identical proteins and their annotated locations for NP_080634.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the protein-coding transcript for this gene.

Source sequence(s)

BC012511, BY328038

Consensus CDS

CCDS17338.1

UniProtKB/Swiss-Prot

Q8VI64, Q96EB2, Q9D9Y5

UniProtKB/TrEMBL

D3Z134

Related

ENSMUSP00000040703.6, ENSMUST00000038154.12

Conserved Domains (1) summary

pfam14962
Location:1 → 191

AIF-MLS; Mitochondria Localization Sequence

RNA

NR_028121.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice junction at the 3' end of the first exon, that causes a frameshift. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is therefore not thought to be protein-coding.

Source sequence(s)

BC022740, BY328038

Related

ENSMUST00000108046.8