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 ATP5F1B Gene

Aliases for ATP5F1B Gene

  • ATP Synthase F1 Subunit Beta 2 3 4 5
  • ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Beta Polypeptide 2 3
  • ATP Synthase Subunit Beta, Mitochondrial 3 4
  • ATP5B 3 4
  • ATPMB 3 4
  • ATPSB 3 4
  • Mitochondrial ATP Synthetase, Beta Subunit 3
  • Mitochondrial ATP Synthase Beta Subunit 3
  • Epididymis Secretory Protein Li 271 3
  • EC 3.6.3.14 51
  • EC 7.1.2.2 4
  • HEL-S-271 3
  • EC 3.6.3 51
  • ATP5F1B 5

External Ids for ATP5F1B Gene

Previous HGNC Symbols for ATP5F1B Gene

  • ATPSB
  • ATP5B

Summaries for ATP5F1B Gene

Entrez Gene Summary for ATP5F1B 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 consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP5F1B Gene

ATP5F1B (ATP Synthase F1 Subunit Beta) is a Protein Coding gene. Diseases associated with ATP5F1B include Alzheimer Disease Mitochondrial and Gallbladder Benign Neoplasm. Among its related pathways are Organelle biogenesis and maintenance and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. An important paralog of this gene is ATP6V1B2.

UniProtKB/Swiss-Prot Summary for ATP5F1B 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. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits.

Gene Wiki entry for ATP5F1B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP5F1B Gene

Genomics for ATP5F1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP5F1B 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 ATP5F1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP5F1B

Genomic Locations for ATP5F1B Gene

Genomic Locations for ATP5F1B Gene
chr12:56,638,175-56,645,984
(GRCh38/hg38)
Size:
7,810 bases
Orientation:
Minus strand
chr12:57,031,959-57,039,852
(GRCh37/hg19)
Size:
7,894 bases
Orientation:
Minus strand

Genomic View for ATP5F1B Gene

Genes around ATP5F1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5F1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5F1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5F1B Gene

Proteins for ATP5F1B Gene

  • Protein details for ATP5F1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06576-ATPB_HUMAN
    Recommended name:
    ATP synthase subunit beta, mitochondrial
    Protein Accession:
    P06576
    Secondary Accessions:
    • A8K4X0
    • Q14283

    Protein attributes for ATP5F1B Gene

    Size:
    529 amino acids
    Molecular mass:
    56560 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. Interacts with PPIF. Interacts with BCL2L1 isoform BCL-X(L); the interaction mediates the association of BCL2L1 isoform BCL-X(L) with the mitochondrial membrane F(1)F(0) ATP synthase and enhances neurons metabolic efficiency. Interacts with CLN5 and PPT1.

neXtProt entry for ATP5F1B Gene

Selected DME Specific Peptides for ATP5F1B Gene

P06576:
  • TKKGSITSVQA
  • GYSVFAGVGERTREGND
  • VPLKETI
  • YVPADDLTDPAPATTFAHLDATTVLSR
  • ELSEEDK
  • EMIESGV
  • GERTREGND
  • TGIKVVDLL
  • VGYQPTL
  • FAHLDAT
  • DATTVLSR
  • ALVYGQMNEPPG
  • GLFGGAG
  • EVSALLGR
  • PAVDPLDSTS
  • AGVGERTREGNDLYHE
  • ELGIYPAVDPL
  • DELSEED
  • GIYPAVD
  • PSAVGYQ
  • VRTIAMD
  • IGAVVDV
  • KVVDLLAPY
  • QAGSEVS
  • DPAPATTF
  • LVTGIKVVDLLAPY
  • KVALVYGQM
  • SVFAGVGER
  • LTGLTVAE
  • EVAQHLG
  • RVALTGLT
  • ELINNVA
  • MGTMQERIT
  • GSITSVQA
  • TGIKVVDLLAPYA
  • VLLFIDNI
  • IDNIFRF
  • SALLGRIPSAVGYQPTL
  • IHAEAPEF
  • PYAKGGKIGLFGGAGVGKTVLI
  • TLGRIMNV
  • VLEVAQH
  • TEGLVRG
  • GAVVDVQF
  • TDPAPAT
  • QMNEPPG
  • REGNDLY
  • PEQAFYM
  • RARKIQRF
  • FIDNIFR
  • DVLLFID
  • PSAVGYQPTLATDMG
  • GVGERTR
  • LQDIIAILGMDELSE
  • IAELGIYPA
  • RFLSQPF
  • DNIFRFTQAG
  • VSRARKI
  • YPAVDPL
  • TVAEYFRD
  • LQDIIAILG
  • QAIYVPADD
  • PPGARARVAL
  • PADDLTDP
  • NVIGEPIDE
  • FDEGLPPIL
  • YKSLQDIIAILGM
  • ILVTGIKV
  • VAEVFTG
  • GEYDHLPE
  • GGAGVGKT
  • MQERITTT
  • LDATTVL

Post-translational modifications for ATP5F1B Gene

  • Glycosylation at Ser106
  • Ubiquitination at Lys124, Lys133, Lys161, Lys201, and Lys426
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP5F1B Gene

Antibody Products

  • Abcam antibodies for ATP5F1B

Domains & Families for ATP5F1B Gene

Gene Families for ATP5F1B Gene

Protein Domains for ATP5F1B Gene

InterPro:
Blocks:
  • H+-transporting two-sector ATPase, alpha/beta subunit, central region
ProtoNet:

Suggested Antigen Peptide Sequences for ATP5F1B Gene

GenScript: Design optimal peptide antigens:
  • ATP synthase subunit beta, mitochondrial (ATPB_HUMAN)
  • ATP synthase subunit beta (Q0QEN7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P06576

UniProtKB/Swiss-Prot:

ATPB_HUMAN :
  • Belongs to the ATPase alpha/beta chains family.
Family:
  • Belongs to the ATPase alpha/beta chains family.
genes like me logo Genes that share domains with ATP5F1B: view

Function for ATP5F1B Gene

Molecular function for ATP5F1B 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. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate; Xref=Rhea:RHEA:57720, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.1.2.2;.

Enzyme Numbers (IUBMB) for ATP5F1B Gene

Phenotypes From GWAS Catalog for ATP5F1B Gene

Gene Ontology (GO) - Molecular Function for ATP5F1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 10077593
GO:0005524 ATP binding IEA --
GO:0016887 contributes_to ATPase activity IBA 21873635
GO:0042288 MHC class I protein binding IDA 17643490
genes like me logo Genes that share ontologies with ATP5F1B: view
genes like me logo Genes that share phenotypes with ATP5F1B: view

Animal Models for ATP5F1B Gene

MGI Knock Outs for ATP5F1B:
  • Atp5b Atp5b<tm1b(EUCOMM)Hmgu>

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP5F1B Gene

Localization for ATP5F1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5F1B Gene

Mitochondrion inner membrane. Peripheral membrane protein. Matrix side.

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 ATP5F1B gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
extracellular 4
nucleus 4
cytosol 3
cytoskeleton 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATP5F1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus HDA 21630459
GO:0005739 mitochondrion IEA,IDA 2870059
GO:0005743 mitochondrial inner membrane IEA --
GO:0005753 mitochondrial proton-transporting ATP synthase complex IBA,IDA 12110673
genes like me logo Genes that share ontologies with ATP5F1B: view

Pathways & Interactions for ATP5F1B Gene

genes like me logo Genes that share pathways with ATP5F1B: view

Gene Ontology (GO) - Biological Process for ATP5F1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IMP 17510399
GO:0001649 osteoblast differentiation HDA 16210410
GO:0006091 generation of precursor metabolites and energy NAS 2870059
GO:0006629 lipid metabolic process IEA --
GO:0006754 ATP biosynthetic process TAS --
genes like me logo Genes that share ontologies with ATP5F1B: view

No data available for SIGNOR curated interactions for ATP5F1B Gene

Drugs & Compounds for ATP5F1B Gene

(10) Drugs for ATP5F1B Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Inositol nicotinate Approved, Withdrawn Pharma Enzyme, inhibitor 0
1-ACETYL-2-CARBOXYPIPERIDINE Experimental Pharma Target 0
AUROVERTIN B Experimental Pharma Target 0
N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE Experimental Pharma Target 0
Piceatannol Experimental Pharma Target p56lck/Syk inhibitor 0

(1) Additional Compounds for ATP5F1B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for ATP5F1B Gene

Compound Action Cas Number
BTB06584 F1F0 ATP synthases 219793-45-0
Oligomycin A Mitochondrial ATP synthase Inhibitor 579-13-5
genes like me logo Genes that share compounds with ATP5F1B: view

Drug Products

Transcripts for ATP5F1B Gene

mRNA/cDNA for ATP5F1B Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5F1B Gene

No ASD Table

Relevant External Links for ATP5F1B Gene

GeneLoc Exon Structure for
ATP5F1B

Expression for ATP5F1B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP5F1B

Evidence on tissue expression from TISSUES for ATP5F1B Gene

  • Heart(5)
  • Nervous system(5)
  • Liver(4.9)
  • Blood(4.8)
  • Lung(4.7)
  • Skin(4.6)
  • Eye(4.6)
  • Intestine(4.5)
  • Muscle(4.4)
  • Pancreas(4.1)
  • Kidney(3.9)
  • Stomach(3.7)
  • Thyroid gland(3.2)
  • Bone(2.9)
  • Adrenal gland(2.9)
  • Lymph node(2.8)
  • Bone marrow(2.8)
  • Spleen(2.8)
  • Gall bladder(2.2)
No Expression Related Data Available

Primer Products

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 ATP5F1B Gene

Orthologs for ATP5F1B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP5F1B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP5B 30 31
  • 99.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP5B 31
  • 95 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP5B 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP5B 30 31
  • 92.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP5B 30 31
  • 92.35 (n)
OneToMany
-- 31
  • 74 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Atp5b 30 17 31
  • 89.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp5b 30
  • 89.1 (n)
Chicken
(Gallus gallus)
Aves ATP5B 30 31
  • 78.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP5B 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp5b 30
  • 78.93 (n)
Str.20526 30
African clawed frog
(Xenopus laevis)
Amphibia atp5b-prov 30
Zebrafish
(Danio rerio)
Actinopterygii ATP5B 31
  • 83 (a)
OneToOne
atp5b 30
  • 78.79 (n)
hmzehn0534 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8681 30
Fruit Fly
(Drosophila melanogaster)
Insecta ATPsyn-beta 30 31
  • 74.67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012106 30
  • 70.05 (n)
Worm
(Caenorhabditis elegans)
Secernentea atp-2 30 31
  • 70.02 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP2 30 31 33
  • 69.13 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D10703g 30
  • 68.53 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABR169W 30
  • 68.4 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G08670 30
  • 68.22 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7062 30
Soybean
(Glycine max)
eudicotyledons Gma.1312 30
Rice
(Oryza sativa)
Liliopsida Os05g0553000 30
  • 69.2 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.1223 30
Wheat
(Triticum aestivum)
Liliopsida Ta.5 30
Corn
(Zea mays)
Liliopsida Zm.957 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4294 31
  • 74 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atp2 30
  • 70.18 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU05430 30
  • 68.79 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4478 30
Species where no ortholog for ATP5F1B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ATP5F1B Gene

ENSEMBL:
Gene Tree for ATP5F1B (if available)
TreeFam:
Gene Tree for ATP5F1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP5F1B: view image

Paralogs for ATP5F1B Gene

Paralogs for ATP5F1B Gene

Pseudogenes.org Pseudogenes for ATP5F1B Gene

genes like me logo Genes that share paralogs with ATP5F1B: view

Variants for ATP5F1B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP5F1B Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs1042001 - p.Glu274Gln
VAR_074188 - p.Ala130Val

Additional dbSNP identifiers (rs#s) for ATP5F1B Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP5F1B Gene

Variant ID Type Subtype PubMed ID
nsv482992 CNV gain+loss 15286789

Variation tolerance for ATP5F1B Gene

Residual Variation Intolerance Score: 50.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.83; 58.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP5F1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5F1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5F1B Gene

Disorders for ATP5F1B Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATP5F1B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease mitochondrial
  • alzheimer disease, susceptibility to, mitochondrial
gallbladder benign neoplasm
gallbladder adenoma
hydronephrosis
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ATP5F1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP5F1B Gene

Publications for ATP5F1B Gene

  1. The human ATP synthase beta subunit gene: sequence analysis, chromosome assignment, and differential expression. (PMID: 2687158) Neckelmann N … Liu JD (Genomics 1989) 2 3 4
  2. 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
  3. Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PMID: 15242332) Aboulaich N … Vener AV (The Biochemical journal 2004) 3 4
  4. ETS transcription factors regulate the expression of the gene for the human mitochondrial ATP synthase beta-subunit. (PMID: 7798271) Villena JA … Villarroya F (The Journal of biological chemistry 1994) 3 23
  5. Gene structure of the human mitochondrial adenosine triphosphate synthase beta subunit. (PMID: 2900241) Ohta S … Kagawa Y (The Journal of biological chemistry 1988) 3 4

Products for ATP5F1B Gene

Sources for ATP5F1B Gene