• Gene id: 515

Gene Summary

• Gene Symbol: ATP5PB   Gene   UCSC   Ensembl
• Aliases: ATP5F1, PIG47
• Gene name: ATP synthase peripheral stalk-membrane subunit b
• Alternate names: ATP synthase F(0) complex subunit B1, mitochondrial, ATP synthase B chain, mitochondrial, ATP synthase proton-transporting mitochondrial F(0) complex subunit B1, ATP synthase subunit b, mitochondrial, ATP synthase, H+ transporting, mitochondrial F0 complex, s,
• Gene location: 1p13.2 (111449463: 111462772)     Exons: 7     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 603270

SNPs

rs25487

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.43551574T>C
NC_000019.10   g.43551574T>G
NC_000019.9   g.44055726T>C
NC_000019.9   g.44055726T>G
NG_033799.1   g.29005A>G
NG_033799.1   g.29005A>C
NM_006297.3   c.1196A>G
NM_006297.3   c.1196A>C
NM_006297.2   c.1196A>G
NM_006297.2   c.1196A>C
NP_006288.  

Protein Summary

• Protein general information: P24539  
  • Name: 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 b) (ATPase subunit b)
  • Length: 256  
  • Mass: 28909
• Sequence:

  MLSRVVLSAAATAAPSLKNAAFLGPGVLQATRTFHTGQPHLVPVPPLPEYGGKVRYGLIPEEFFQFLYPKTGVTG
  PYVLGTGLILYALSKEIYVISAETFTALSVLGVMVYGIKKYGPFVADFADKLNEQKLAQLEEAKQASIQHIQNAI
  DTEKSQQALVQKRHYLFDVQRNNIAMALEVTYRERLYRVYKEVKNRLDYHISVQNMMRRKEQEHMINWVEKHVVQ
  SISTQQEKETIAKCIADLKLLAKKAQAQPVM

• Structural information:
  • Interpro: IPR008688  IPR013837  
  • STRING: ENSP00000358737
• Other Databases: GeneCards:  ATP5PB  Malacards:  ATP5PB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015986	ATP synthesis coupled proton transport	IBA	biological process
GO:0000276	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	IBA	cellular component
GO:0015986	ATP synthesis coupled proton transport	IEA	biological process
GO:0000276	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	IEA	cellular component
GO:0015078	proton transmembrane transporter activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0045263	proton-transporting ATP synthase complex, coupling factor F(o)	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0042407	cristae formation	TAS	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0042776	mitochondrial ATP synthesis coupled proton transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0021762	substantia nigra development	HEP	biological process
GO:0042776	mitochondrial ATP synthesis coupled proton transport	IDA	biological process
GO:0046933	proton-transporting ATP synthase activity, rotational mechanism	IDA	contributes to
GO:0005753	mitochondrial proton-transporting ATP synthase complex	IDA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0005759	mitochondrial matrix	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation

Diseases

Associated diseases	References
clear cell renal cell carcinoma	PMID:28672194
hepatocellular carcinoma	PMID:18932288
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881