ATP5F1B ATP synthase F1 subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP5F1Bprovided by HGNC
Official Full Name: ATP synthase F1 subunit betaprovided by HGNC
Primary source: HGNC:HGNC:830
See related: Ensembl:ENSG00000110955 MIM:102910; AllianceGenome:HGNC:830
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: ATP5B; ATPMB; ATPSB; HUMOP2; HEL-S-271
Summary: This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in heart (RPKM 713.8), kidney (RPKM 376.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (56638175..56645984, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (56606172..56613970, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (57031959..57039768, complement)

Chromosome 12 - NC_000012.12 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?

Variants in ATP5F1B are associated with dominantly inherited dystonia.
Title: Variants in ATP5F1B are associated with dominantly inherited dystonia.
Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.
Title: Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.
Characterization of the interactome of c-Src within the mitochondrial matrix by proximity-dependent biotin identification.
Title: Characterization of the interactome of c-Src within the mitochondrial matrix by proximity-dependent biotin identification.
F0F1 ATP synthase regulates extracellular calcium influx in human neutrophils by interacting with Cav2.3 and modulates neutrophil accumulation in the lipopolysaccharide-challenged lung.
Title: F0F1 ATP synthase regulates extracellular calcium influx in human neutrophils by interacting with Ca(v)2.3 and modulates neutrophil accumulation in the lipopolysaccharide-challenged lung.
Identification and validation of suitable reference genes for quantitative real-time PCR gene expression analysis in pregnant human myometrium.
Title: Identification and validation of suitable reference genes for quantitative real-time PCR gene expression analysis in pregnant human myometrium.
Data show that ectopic plasma membrane ATP5B denotes a high metastasis-risk phenotype in breast and prostate cancer, and a vulnerability of cancer cells in vivo. Across multiple datasets, ATP5B expression was significantly increased in the tumors relative to normal tissue, and negatively correlated with metastasis-free and overall survival.
Title: A novel RNA aptamer identifies plasma membrane ATP synthase beta subunit as an early marker and therapeutic target in aggressive cancer.
results shed light on the role of host proteins in RV genome assembly and particle formation and identify ATP5B as a novel pro-RV RNA-binding protein, contributing to our understanding of how host ATP synthases may galvanize virus growth and pathogenesis.
Title: Profiling of rotavirus 3'UTR-binding proteins reveals the ATP synthase subunit ATP5B as a host factor that supports late-stage virus replication.
ATP5B reduction would be at least in part due to neuronal loss.
Title: ATP Synthase Subunit Beta Immunostaining is Reduced in the Sclerotic Hippocampus of Epilepsy Patients.
The results revealed that ATP5B expression is associated with the process of keratinocyte differentiation which may be related to intracellular ATP synthesis.
Title: Possible Involvement of F1F0-ATP synthase and Intracellular ATP in Keratinocyte Differentiation in normal skin and skin lesions.
findings show the T163S mutation affects the catalytic activity with a decrease in Ca2+-dependent and an increase in Mg2+-dependent ATP hydrolysis and desensitizes the permeability transition pore to Ca2+, resulting in increased resistance to Ca2+-dependent mitochondrial depolarization and to cell death
Title: Ca(2+) binding to F-ATP synthase β subunit triggers the mitochondrial permeability transition.

Submit: New GeneRIF Correction See all GeneRIFs (44)

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

Associated conditions

Description	Tests
Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 MedGen: C5774237 OMIM: 620085 GeneReviews: Not available	not available

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 F1 complex, beta polypeptide (ATP5B) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the expression of ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B) in Jurkat cells	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of ATP synthase beta subunit (ATP5B) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed
Vpu	vpu	HIV-1 Vpu is identified to have a physical interaction with ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	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

M27132 (e-PCR)
- UniSTS:75054

RH78335 (e-PCR)
- UniSTS:28758

D12S1168E (e-PCR)
- UniSTS:151449

RH18073 (e-PCR)
- UniSTS:28583

ATP5B (e-PCR)
- UniSTS:504033

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables MHC class I protein binding	IDA Inferred from Direct Assay more info	PubMed
enables angiostatin binding	IPI Inferred from Physical Interaction more info	PubMed
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
enables proton-transporting ATP synthase activity, rotational mechanism	IMP Inferred from Mutant Phenotype more info	PubMed
enables proton-transporting ATPase activity, rotational mechanism	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to interleukin-7	IEA Inferred from Electronic Annotation more info
involved_in generation of precursor metabolites and energy	NAS Non-traceable Author Statement more info	PubMed
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell adhesion involved in substrate-bound cell migration	IEA Inferred from Electronic Annotation more info
involved_in osteoblast differentiation	HDA more info	PubMed
involved_in positive regulation of blood vessel endothelial cell migration	IGI Inferred from Genetic Interaction more info	PubMed
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	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton motive force-driven mitochondrial ATP synthesis	IDA Inferred from Direct Assay more info	PubMed
involved_in proton transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular pH	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial matrix	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
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	PubMed
located_in nucleus	HDA more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
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, catalytic core F(1)	IBA Inferred from Biological aspect of Ancestor more info
part_of proton-transporting ATP synthase, catalytic core	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: ATP synthase subunit beta, mitochondrial

Names: ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide; epididymis secretory protein Li 271; mitochondrial ATP synthase beta subunit; mitochondrial ATP synthetase, beta subunit

NP_001677.2

EC 7.1.2.2

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.