MGARP mitochondria localized glutamic acid rich protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: MGARPprovided by HGNC
Official Full Name: mitochondria localized glutamic acid rich proteinprovided by HGNC
Primary source: HGNC:HGNC:29969
See related: Ensembl:ENSG00000137463 MIM:619684; AllianceGenome:HGNC:29969
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OSAP; HUMMR; CESP-1; C4orf49
Summary: Predicted to be involved in several processes, including axonal transport; cellular response to gonadotropin-releasing hormone; and nervous system development. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in adrenal (RPKM 112.3) and ovary (RPKM 9.8) See more
Orthologs: mouse all
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Genomic context

Location:: 4q31.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (139266165..139280225, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (142585757..142599821, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (140187319..140201379, complement)

Chromosome 4 - NC_000004.12 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MGARP overexpression caused both mitochondrial remodeling and cristae shaping, leading to the collapse of the mitochondrial network. The mitochondrial morphologies in MGARP-overexpressing cells were diverse; the cells became round or short, and their cristae were deformed and became discontinuous or circular.
Title: MGARP is ultrastructurally located in the inner faces of mitochondrial membranes.
The present study identified a proximal core sequence in the MGARP promoter that is composed of two enriched Sp1 binding motifs and established Sp1 as one major MGARP transactivator.
Title: Mitochondria-localized glutamic acid-rich protein (MGARP) gene transcription is regulated by Sp1.
Results identify a mitochondria-localized glutamic acid-rich protein (MGARP/OSAP) as one of the highly expressed proteins in retina.
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).
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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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in axon development	ISS Inferred from Sequence or Structural Similarity more info
involved_in axonal transport of mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to gonadotropin-releasing hormone	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to steroid hormone stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cerebral cortex development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of dendrite development	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein targeting to mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitochondrion organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in retrograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

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.