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 c... See more...

Aliases for ATP5PB Gene

Aliases for ATP5PB Gene

  • ATP Synthase Peripheral Stalk-Membrane Subunit B 2 3 4 5
  • ATP Synthase Proton-Transporting Mitochondrial F(0) Complex Subunit B1 3 4
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit B1 2 3
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex Subunit B1 2 3
  • ATP Synthase F(0) Complex Subunit B1, Mitochondrial 3 4
  • ATPase Subunit B 3 4
  • ATP5F1 3 4
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit B, Isoform 1 2
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit B1 2
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit B 3
  • Cell Proliferation-Inducing Protein 47 3
  • ATP Synthase Subunit B, Mitochondrial 3
  • ATP Synthase B Chain, Mitochondrial 3
  • H+-ATP Synthase Subunit B 3
  • ATP Synthase Subunit B 4
  • ATP5PB 5
  • PIG47 3

External Ids for ATP5PB Gene

Previous HGNC Symbols for ATP5PB Gene

  • ATP5F1

Summaries for ATP5PB Gene

Entrez Gene Summary for ATP5PB Gene

  • 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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP5PB Gene

ATP5PB (ATP Synthase Peripheral Stalk-Membrane Subunit B) is a Protein Coding gene. Diseases associated with ATP5PB include Huntington Disease and Alzheimer Disease. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Parkinson disease.

UniProtKB/Swiss-Prot Summary for ATP5PB Gene

  • Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements.

Gene Wiki entry for ATP5PB Gene

Additional gene information for ATP5PB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP5PB Gene

Genomics for ATP5PB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP5PB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP5PB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP5PB

Genomic Locations for ATP5PB Gene

Genomic Locations for ATP5PB Gene
chr1:111,448,864-111,462,773
(GRCh38/hg38)
Size:
13,910 bases
Orientation:
Plus strand
chr1:111,991,486-112,005,395
(GRCh37/hg19)
Size:
13,910 bases
Orientation:
Plus strand

Genomic View for ATP5PB Gene

Genes around ATP5PB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5PB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5PB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5PB Gene

Proteins for ATP5PB Gene

  • Protein details for ATP5PB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24539-AT5F1_HUMAN
    Recommended name:
    ATP synthase F(0) complex subunit B1, mitochondrial
    Protein Accession:
    P24539
    Secondary Accessions:
    • Q9BQ68
    • Q9BRU8

    Protein attributes for ATP5PB Gene

    Size:
    256 amino acids
    Molecular mass:
    28909 Da
    Quaternary structure:
    • F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c. Component of an ATP synthase complex composed of ATP5PB, ATP5MC1, ATP5F1E, ATP5PD, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MD and ATP5MPL (By similarity).

neXtProt entry for ATP5PB Gene

Post-translational modifications for ATP5PB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP5PB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP5PB Gene

Domains & Families for ATP5PB Gene

Gene Families for ATP5PB Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ATP5PB Gene

InterPro:
Blocks:
  • Mitochondrial ATP synthase B chain
ProtoNet:

Suggested Antigen Peptide Sequences for ATP5PB Gene

GenScript: Design optimal peptide antigens:
  • ATP synthase subunit b, mitochondrial (AT5F1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P24539

UniProtKB/Swiss-Prot:

AT5F1_HUMAN :
  • Belongs to the eukaryotic ATPase B chain family.
Family:
  • Belongs to the eukaryotic ATPase B chain family.
genes like me logo Genes that share domains with ATP5PB: view

Function for ATP5PB Gene

Molecular function for ATP5PB Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements.

Phenotypes From GWAS Catalog for ATP5PB Gene

Gene Ontology (GO) - Molecular Function for ATP5PB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19016746
GO:0015078 proton transmembrane transporter activity IEA --
GO:0046933 contributes_to proton-transporting ATP synthase activity, rotational mechanism IDA 12110673
genes like me logo Genes that share ontologies with ATP5PB: view
genes like me logo Genes that share phenotypes with ATP5PB: view

Animal Models for ATP5PB Gene

MGI Knock Outs for ATP5PB:
  • Atp5pb Atp5pb<tm1b(EUCOMM)Wtsi>

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP5PB Gene

Localization for ATP5PB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5PB Gene

Mitochondrion. Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP5PB gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATP5PB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IEA,IBA 21873635
GO:0005634 nucleus HDA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
genes like me logo Genes that share ontologies with ATP5PB: view

Pathways & Interactions for ATP5PB Gene

genes like me logo Genes that share pathways with ATP5PB: view

Gene Ontology (GO) - Biological Process for ATP5PB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006754 ATP biosynthetic process TAS --
GO:0006811 ion transport IEA --
GO:0015986 ATP synthesis coupled proton transport IEA,IBA 21873635
GO:0021762 substantia nigra development HEP 22926577
GO:0042407 cristae formation TAS --
genes like me logo Genes that share ontologies with ATP5PB: view

No data available for SIGNOR curated interactions for ATP5PB Gene

Drugs & Compounds for ATP5PB Gene

(3) Drugs for ATP5PB Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clotrimazole Approved, Vet_approved Pharma Pore Blocker, Inhibition, Agonist, Antagonist, Channel blocker, Gating inhibitor 3024
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(2) Additional Compounds for ATP5PB Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with ATP5PB: view

Transcripts for ATP5PB Gene

mRNA/cDNA for ATP5PB Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5PB Gene

No ASD Table

Relevant External Links for ATP5PB Gene

GeneLoc Exon Structure for
ATP5PB

Expression for ATP5PB Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP5PB

Evidence on tissue expression from TISSUES for ATP5PB Gene

  • Nervous system(5)
  • Liver(4.7)
  • Skin(4)
  • Heart(3.9)
  • Lung(3.7)
  • Muscle(3.7)
  • Kidney(3.7)
  • Blood(2.6)
  • Stomach(2.5)
  • Intestine(2.4)
  • Lymph node(2.2)
  • Eye(2.2)
  • Spleen(2.1)
  • Pancreas(2.1)
  • Adrenal gland(2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP5PB Gene

Orthologs for ATP5PB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP5PB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP5F1 30 31
  • 99.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP5F1 30 31
  • 88.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC479901 30
  • 85.94 (n)
ATP5F1 31
  • 85 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp5f1 30 31
  • 84.77 (n)
OneToOne
Atp5pb 17
Rat
(Rattus norvegicus)
Mammalia Atp5f1 30
  • 84.37 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP5F1 31
  • 79 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP5F1 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATP5F1 30 31
  • 66.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP5F1 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp5f1 30
  • 63.71 (n)
MGC75766 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.9224 30
Zebrafish
(Danio rerio)
Actinopterygii atp5f1 30 31
  • 60.24 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9026 30
Fruit Fly
(Drosophila melanogaster)
Insecta ATPsyn-b 30 31
  • 53.37 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001138 30
  • 49.72 (n)
Worm
(Caenorhabditis elegans)
Secernentea asb-2 31
  • 18 (a)
OneToMany
asb-1 31
  • 18 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP4 33
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7988 31
  • 27 (a)
OneToOne
Species where no ortholog for ATP5PB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ATP5PB Gene

ENSEMBL:
Gene Tree for ATP5PB (if available)
TreeFam:
Gene Tree for ATP5PB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP5PB: view image

Paralogs for ATP5PB Gene

No data available for Paralogs for ATP5PB Gene

Variants for ATP5PB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP5PB Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1264895 -. - p.Thr152Asnp.Thr152Met

Additional dbSNP identifiers (rs#s) for ATP5PB Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP5PB Gene

Variant ID Type Subtype PubMed ID
esv3451263 CNV insertion 20981092
nsv463250 CNV loss 19166990
nsv547535 CNV loss 21841781
nsv946140 CNV duplication 23825009

Variation tolerance for ATP5PB Gene

Residual Variation Intolerance Score: 28.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP5PB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5PB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5PB Gene

Disorders for ATP5PB Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP5PB Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
huntington disease
  • hd
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ATP5PB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP5PB Gene

Publications for ATP5PB Gene

  1. Molecular cloning of cDNA for the import precursor of human subunit B of H(+)-ATP synthase in mitochondria. (PMID: 1831354) Higuti T … Ichihara A (Biochemical and biophysical research communications 1991) 2 3 4
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3
  5. Physiological and pathophysiological characteristics of ataxin-3 isoforms. (PMID: 30455355) Weishäupl D … Schmidt T (The Journal of biological chemistry 2019) 3

Products for ATP5PB Gene

Sources for ATP5PB Gene