ATP5ME ATP synthase membrane subunit e [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP5MEprovided by HGNC
Official Full Name: ATP synthase membrane subunit eprovided by HGNC
Primary source: HGNC:HGNC:846
See related: Ensembl:ENSG00000169020 MIM:601519; AllianceGenome:HGNC:846
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: ATP5I; ATP5K
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 e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
Expression: Ubiquitous expression in colon (RPKM 167.6), kidney (RPKM 153.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p16.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (672436..674276, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (672110..673950, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (666225..668065, 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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
The inhibitory activity against mitochondria and F(1)F(0)-ATP synthase is not limited to atrazine but is likely to be applicable to other triazine-based compounds.
Title: Atrazine binds to F1F0-ATP synthase and inhibits mitochondrial function in sperm.
results suggest that antisense of hAS-e can inhibit cell proliferation through the MAP kinase pathway
Title: Antisense of ATP synthase subunit e inhibits the growth of human hepatocellular carcinoma cells.
This is the first report identifying caspase-3 as a substrate protein of Hsp90.
Title: F1F0-ATP synthase functions as a co-chaperone of Hsp90-substrate protein complexes.

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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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E (ATP5I) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-152391 (e-PCR)
- UniSTS:183860

D4S913 (e-PCR)
- UniSTS:1606

RH48833 (e-PCR)
- UniSTS:52550

D4S2936 (e-PCR), detects polymorphism
- UniSTS:24920

G34358 (e-PCR)
- UniSTS:17574

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	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
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	IBA Inferred from Biological aspect of Ancestor more info
part_of proton-transporting ATP synthase complex	IDA Inferred from Direct Assay more info	PubMed
part_of proton-transporting ATP synthase complex, coupling factor F(o)	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ATP synthase subunit e, mitochondrial

Names: ATP synthase e chain, mitochondrial; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E; ATP synthase, H+ transporting, mitochondrial Fo complex subunit E; ATPase subunit e; F1F0-ATP synthase, murine e subunit

NP_009031.1

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_007100.4 → NP_009031.1 ATP synthase subunit e, mitochondrial

See identical proteins and their annotated locations for NP_009031.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

BC003679, BF215596, BG940181

Consensus CDS

CCDS3337.1

UniProtKB/Swiss-Prot

P56385, Q0D2L9

Related

ENSP00000306003.4, ENST00000304312.5

Conserved Domains (1) summary

pfam05680
Location:2 → 69

ATP-synt_E; ATP synthase E chain

RNA

NR_033743.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks 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)

BG940181, DA119852

Related

ENST00000505852.1