MTG1 mitochondrial ribosome associated GTPase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTG1provided by HGNC
Official Full Name: mitochondrial ribosome associated GTPase 1provided by HGNC
Primary source: HGNC:HGNC:32159
See related: Ensembl:ENSG00000148824 AllianceGenome:HGNC:32159
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: GTP; GTPBP7
Summary: Enables GTPase activity. Involved in regulation of mitochondrial translation and regulation of respiratory system process. Located in mitochondrial inner membrane; mitochondrial ribosome; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 19.8), duodenum (RPKM 18.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (133394157..133422520)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (134349129..134377446)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (135207661..135236024)

Chromosome 10 - NC_000010.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Vulvar angiomyofibroblastoma is molecularly defined by recurrent MTG1-CYP2E1 fusions.
Title: Vulvar angiomyofibroblastoma is molecularly defined by recurrent MTG1-CYP2E1 fusions.
Potential pathogenetic link between angiomyofibroblastoma and superficial myofibroblastoma in the female lower genital tract based on a novel MTG1-CYP2E1 fusion.
Title: Potential pathogenetic link between angiomyofibroblastoma and superficial myofibroblastoma in the female lower genital tract based on a novel MTG1-CYP2E1 fusion.
dampening oxidative stress with N-acetylcysteine (NAC) lowered hypertrophy in MTG1 KO to WT levels. Collectively, our data indicate that MTG1 protects against pressure overload-induced cardiac hypertrophy and dysfunction by preserving mitochondrial function and reducing oxidative stress and downstream TAK1 stress signaling.
Title: Novel role of mitochondrial GTPases 1 in pathological cardiac hypertrophy.
MTG1 establishes a quality control checkpoint in mitoribosome assembly. In conclusion, MTG1 controls mitochondrial translation by coupling mtLSU assembly with intersubunit bridge formation using the intrinsic GEF activity acquired by the mtSSU through mS27, a unique occurrence in translational systems.
Title: MTG1 couples mitoribosome large subunit assembly with intersubunit bridge formation.
The results suggested that Mtg1 functions with the large subunit of the mitochondrial ribosome, and are involved in both the translation and assembly of respiratory complexes.
Title: Human G-proteins, ObgH1 and Mtg1, associate with the large mitochondrial ribosome subunit and are involved in translation and assembly of respiratory complexes.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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

EBI GWAS Catalog

Description
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

RH78812 (e-PCR)
- UniSTS:7457

RH44494 (e-PCR)
- UniSTS:44331

D10S1371E (e-PCR)
- UniSTS:10557

G20843 (e-PCR)
- UniSTS:44102

A006I19 (e-PCR)
- UniSTS:44103

WI-18269 (e-PCR)
- UniSTS:37069

A002U38 (e-PCR)
- UniSTS:36568

G06274 (e-PCR)
- UniSTS:12250

RH91171 (e-PCR)
- UniSTS:84990

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitochondrial translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of respiratory system process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial ribosome	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: mitochondrial ribosome-associated GTPase 1

Names: GTP-binding protein 7 (putative); mitochondrial GTPase 1 homolog

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_138384.4 → NP_612393.2 mitochondrial ribosome-associated GTPase 1

Status: VALIDATED

Source sequence(s)

AI344070, AL161645, AL360181

Consensus CDS

CCDS31320.1

UniProtKB/Swiss-Prot

Q5VWX8, Q6PIY9, Q8IYJ4, Q8NC48, Q9BT17, Q9BVU8

UniProtKB/TrEMBL

A8K900

Related

ENSP00000323047.6, ENST00000317502.11

Conserved Domains (1) summary

cd01856
Location:30 → 207

YlqF; Circularly permuted YlqF GTPase