ATP5PB (ATP synthase peripheral stalk-membrane subunit b)

Gene

• Entrez ID: 515
• Gene name: ATP synthase peripheral stalk-membrane subunit b
• Gene symbol: ATP5PB
• Synonyms (NCBI Gene): ATP5F1, PIG47
• Chromosome: 1
• Chromosome location: 1p13.2
• 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 lin

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19016746, 19688755, 27499296, 28514442, 30021884, 32814053, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IC	12110673
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	26297831
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	NAS	1831354
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0015078	Function	Proton transmembrane transporter activity	IEA
GO:0015986	Process	Proton motive force-driven ATP synthesis	IBA
GO:0015986	Process	Proton motive force-driven ATP synthesis	IEA
GO:0015986	Process	Proton motive force-driven ATP synthesis	NAS	26297831
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	IDA	12110673
GO:0045259	Component	Proton-transporting ATP synthase complex	IDA	12110673
GO:0045259	Component	Proton-transporting ATP synthase complex	IEA
GO:0045259	Component	Proton-transporting ATP synthase complex	NAS	26297831
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IBA
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IDA	12110673
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 603270
• HGNC: 840
• e!Ensembl: ENSG00000116459

Protein

• UniProt ID: P24539
• Protein name: ATP synthase peripheral stalk subunit b, mitochondrial (ATP synthase F(0) complex subunit B1, mitochondrial) (ATP synthase peripheral stalk-membrane subunit b) (ATP synthase proton-transporting mitochondrial F(0) complex subunit B1) (ATP synthase subunit
• Protein function: Subunit b, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the resp
• PDB: 8H9F, 8H9G, 8H9J, 8H9K, 8H9M, 8H9N, 8H9Q, 8H9R, 8H9S, 8H9T, 8H9U, 8H9V, 8KHF, 8KI3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05405	Mt_ATP-synt_B	83 → 244	Mitochondrial ATP synthase B chain precursor (ATP-synt_B)	Family

• Sequence:

  MLSRVVLSAAATAAPSLKNAAFLGPGVLQATRTFHTGQPHLVPVPPLPEYGGKVRYGLIP
  EEFFQFLYPKTGVTGPYVLGTGLILYALSKEIYVISAETFTALSVLGVMVYGIKKYGPFV
  ADFADKLNEQKLAQLEEAKQASIQHIQNAIDTEKSQQALVQKRHYLFDVQRNNIAMALEV
  TYRERLYRVYKEVKNRLDYHISVQNMMRRKEQEHMINWVEKHVVQSISTQQEKETIAKCI
  ADLKLLAKKAQAQPVM

• Sequence length: 256

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

Formation of ATP by chemiosmotic coupling
Cristae formation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18932288	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33378017	Associate	★☆☆☆☆ Found in Text Mining only