• Gene id: 506

Gene Summary

• Gene Symbol: ATP5F1B   Gene   UCSC   Ensembl
• Aliases: ATP5B, ATPMB, ATPSB, HEL-S-271
• Gene name: ATP synthase F1 subunit beta
• Alternate names: ATP synthase subunit beta, mitochondrial, ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide, epididymis secretory protein Li 271, mitochondrial ATP synthase beta subunit, mitochondrial ATP synthetase, beta subunit,
• Gene location: 12q13.3 (56645983: 56638174)     Exons: 10     NC_000012.12
• 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: 102910

SNPs

rs2303846

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

NC_000015.10   g.82544529G>A
NC_000015.9   g.82828937G>A
NG_009890.2   g.1016C>T
NT_187606.1   g.333634G>A
NM_030594.4   c.*63C>T
NM_030594.5   c.*63C>T
NM_030594.3   c.*63C>T
NM_001365240.1   c.*63C>T
NM_001288819.1   c.*63C>T
NM_001365242.1   c.*63C>T
NM_001365246.1   c

Protein Summary

• Protein general information: P06576  
  • Name: ATP synthase subunit beta, mitochondrial (EC 7.1.2.2) (ATP synthase F1 subunit beta)
  • Length: 529  
  • Mass: 56560
• Sequence:

  MLGFVGRVAAAPASGALRRLTPSASLPPAQLLLRAAPTAVHPVRDYAAQTSPSPKAGAATGRIVAVIGAVVDVQF
  DEGLPPILNALEVQGRETRLVLEVAQHLGESTVRTIAMDGTEGLVRGQKVLDSGAPIKIPVGPETLGRIMNVIGE
  PIDERGPIKTKQFAPIHAEAPEFMEMSVEQEILVTGIKVVDLLAPYAKGGKIGLFGGAGVGKTVLIMELINNVAK
  AHGGYSVFAGVGERTREGNDLYHEMIESGVINLKDATSKVALVYGQMNEPPGARARVALTGLTVAEYFRDQEGQD
  VLLFIDNIFRFTQAGSEVSALLGRIPSAVGYQPTLATDMGTMQERITTTKKGSITSVQAIYVPADDLTDPAPATT
  FAHLDATTVLSRAIAELGIYPAVDPLDSTSRIMDPNIVGSEHYDVARGVQKILQDYKSLQDIIAILGMDELSEED
  KLTVSRARKIQRFLSQPFQVAEVFTGHMGKLVPLKETIKGFQQILAGEYDHLPEQAFYMVGPIEEAVAKADKLAE
  EHSS

• Structural information:
  • Interpro: IPR003593  IPR005722  IPR020003  IPR004100  IPR036121   IPR000194  IPR024034  IPR027417  
  • Prosite: PS00152
  • STRING: ENSP00000262030
• Other Databases: GeneCards:  ATP5F1B  Malacards:  ATP5F1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0016887	ATPase activity	IBA	contributes to
GO:0005753	mitochondrial proton-transporting ATP synthase complex	IBA	cellular component
GO:0046933	proton-transporting ATP synthase activity, rotational mechanism	IBA	contributes to
GO:0045261	proton-transporting ATP synthase complex, catalytic core F(1)	IBA	cellular component
GO:0042776	mitochondrial ATP synthesis coupled proton transport	IBA	biological process
GO:0015986	ATP synthesis coupled proton transport	IEA	biological process
GO:0045261	proton-transporting ATP synthase complex, catalytic core F(1)	IEA	cellular component
GO:0046034	ATP metabolic process	IEA	biological process
GO:0046933	proton-transporting ATP synthase activity, rotational mechanism	IEA	molecular function
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0045261	proton-transporting ATP synthase complex, catalytic core F(1)	IEA	cellular component
GO:0006754	ATP biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	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:0007005	mitochondrion organization	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: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:0005515	protein binding	IPI	molecular function
GO:0098761	cellular response to interleukin-7	IEA	biological process
GO:0006933	negative regulation of cell adhesion involved in substrate-bound cell migration	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006754	ATP biosynthetic process	IMP	biological process
GO:0043536	positive regulation of blood vessel endothelial cell migration	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043532	angiostatin binding	IPI	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0045259	proton-transporting ATP synthase complex	IDA	cellular component
GO:0046933	proton-transporting ATP synthase activity, rotational mechanism	IMP	molecular function
GO:0042776	mitochondrial ATP synthesis coupled proton transport	IDA	biological process
GO:0046933	proton-transporting ATP synthase activity, rotational mechanism	IDA	contributes to
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005753	mitochondrial proton-transporting ATP synthase complex	IDA	cellular component
GO:0042288	MHC class I protein binding	IDA	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0001649	osteoblast differentiation	HDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:1902600	proton transmembrane transport	IMP	biological process
GO:0006754	ATP biosynthetic process	IMP	biological process
GO:0005739	mitochondrion	HDA	cellular component
GO:0051453	regulation of intracellular pH	IMP	biological process
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006091	generation of precursor metabolites and energy	NAS	biological process
GO:0001525	angiogenesis	IMP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005759	mitochondrial matrix	NAS	cellular component
GO:0005754	mitochondrial proton-transporting ATP synthase, catalytic core	NAS	cellular component

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
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)