ATP5MG ATP synthase membrane subunit g [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP5MGprovided by HGNC
Official Full Name: ATP synthase membrane subunit gprovided by HGNC
Primary source: HGNC:HGNC:14247
See related: Ensembl:ENSG00000167283 MIM:617473; AllianceGenome:HGNC:14247
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATP5L; ATP5JG
Summary: Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
Expression: Ubiquitous expression in heart (RPKM 88.2), kidney (RPKM 80.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (118401606..118409847)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (118417857..118426099)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (118272321..118280562)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

this study demonstrates that F1Fo ATP synthase can support general mitochondrial and cellular functions, working in extremely efficient 'energy saving' reverse mode and flexibly recruiting free radical detoxication and ATP producing / transporting pathways.
Title: Low energy costs of F1Fo ATP synthase reversal in colon carcinoma cells deficient in mitochondrial complex IV.
Overexpression of miR-570-3p in platelets resulted in reduced levels of ATP5L mRNA and concomitant ATP loss.
Title: miR-570 interacts with mitochondrial ATPase subunit g (ATP5L) encoding mRNA in stored platelets.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.

Submit: New GeneRIF Correction

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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Markers

RH66640 (e-PCR)
- UniSTS:40965

D20S1118 (e-PCR)
- UniSTS:80908

A006R09 (e-PCR)
- UniSTS:5566

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to proton-transporting ATP synthase activity, rotational mechanism	IBA Inferred from Biological aspect of Ancestor more info
contributes_to proton-transporting ATP synthase activity, rotational mechanism	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in proton motive force-driven ATP synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton motive force-driven ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	IDA Inferred from Direct Assay more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IC Inferred by Curator more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
part_of proton-transporting ATP synthase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ATP synthase subunit g, mitochondrial

Names: ATP synthase g chain, mitochondrial; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G; ATP synthase, H+ transporting, mitochondrial F1F0, subunit g; ATP synthase, H+ transporting, mitochondrial Fo complex subunit G; ATPase subunit G; F1F0-type ATP synthase subunit g; F1Fo-ATP synthase complex Fo membrane domain g subunit

NP_006467.4

EC 3.6.1.14

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_006476.5 → NP_006467.4 ATP synthase subunit g, mitochondrial

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and is protein coding.

Source sequence(s)

AA258888, AI337729, BC070165

Consensus CDS

CCDS8397.1

UniProtKB/Swiss-Prot

A8K0K3, O75964, Q96BV6, Q9UBZ7

UniProtKB/TrEMBL

A0A8I5KSW3

Related

ENSP00000300688.3, ENST00000300688.8

Conserved Domains (1) summary

pfam04718
Location:10 → 101

ATP-synt_G; Mitochondrial ATP synthase g subunit

RNA

NR_033759.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate exon in the coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA258888, AI337729, BC015128, BU953217