ATP5F1B (ATP synthase F1 subunit beta)

Gene

• Entrez ID: 506
• Gene name: ATP synthase F1 subunit beta
• Gene symbol: ATP5F1B
• Synonyms: ATP5B, ATPMB, ATPSB, HEL-S-271
• Chromosome: 12
• Chromosome location: 12q13.3
• 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 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005602	hsa-miR-101-3p	qRT-PCR, Western blot, Reporter assay;Western blot;qRT-PCR;Other	21291913
MIRT016458	hsa-miR-193b-3p	Proteomics	21512034
MIRT036231	hsa-miR-320b	CLASH	23622248
MIRT037390	hsa-miR-744-5p	CLASH	23622248
MIRT038164	hsa-miR-423-5p	CLASH	23622248
MIRT038180	hsa-miR-339-3p	CLASH	23622248
MIRT038192	hsa-miR-151a-5p	CLASH	23622248
MIRT039526	hsa-miR-652-3p	CLASH	23622248
MIRT039583	hsa-miR-629-3p	CLASH	23622248
MIRT039749	hsa-miR-615-3p	CLASH	23622248
MIRT042953	hsa-miR-324-3p	CLASH	23622248
MIRT043106	hsa-miR-324-5p	CLASH	23622248
MIRT043514	hsa-miR-331-3p	CLASH	23622248
MIRT044737	hsa-miR-320a	CLASH	23622248
MIRT046071	hsa-miR-125b-5p	CLASH	23622248
MIRT048763	hsa-miR-93-5p	CLASH	23622248
MIRT049370	hsa-miR-92a-3p	CLASH	23622248
MIRT050381	hsa-miR-24-3p	CLASH	23622248
MIRT050865	hsa-miR-17-5p	CLASH	23622248
MIRT051391	hsa-let-7f-5p	CLASH	23622248
MIRT441148	hsa-miR-218-5p	HITS-CLIP	23212916

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IMP	17510399
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0005515	Function	Protein binding	IPI	10077593, 11410595, 15161933, 20618440, 21106936, 27499296, 28514442, 29892012, 30021884, 31515488, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IDA	2870059
GO:0005753	Component	Mitochondrial proton-transporting ATP synthase complex	IBA	21873635
GO:0005753	Component	Mitochondrial proton-transporting ATP synthase complex	IDA	12110673
GO:0005754	Component	Mitochondrial proton-transporting ATP synthase, catalytic core	NAS	2870059
GO:0005759	Component	Mitochondrial matrix	NAS	2687158
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005886	Component	Plasma membrane	IDA	10077593
GO:0006091	Process	Generation of precursor metabolites and energy	NAS	2870059
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006754	Process	ATP biosynthetic process	IMP	17510399, 21106936
GO:0006754	Process	ATP biosynthetic process	TAS
GO:0006933	Process	Negative regulation of cell adhesion involved in substrate-bound cell migration	IEA
GO:0007005	Process	Mitochondrion organization	TAS
GO:0009986	Component	Cell surface	IDA	17510399
GO:0016020	Component	Membrane	HDA	16210410, 19946888
GO:0016020	Component	Membrane	IDA	21106936
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0031966	Component	Mitochondrial membrane	IDA	8006588
GO:0042288	Function	MHC class I protein binding	IDA	17643490
GO:0042407	Process	Cristae formation	TAS
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0042776	Process	Mitochondrial ATP synthesis coupled proton transport	IBA	21873635
GO:0042776	Process	Mitochondrial ATP synthesis coupled proton transport	IDA	12110673
GO:0042776	Process	Mitochondrial ATP synthesis coupled proton transport	TAS
GO:0043532	Function	Angiostatin binding	IPI	21106936
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IGI	21106936
GO:0045259	Component	Proton-transporting ATP synthase complex	IDA	21106936
GO:0045261	Component	Proton-transporting ATP synthase complex, catalytic core F(1)	IBA	21873635
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IBA	21873635
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IDA	12110673
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	IMP	21106936
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IMP	17510399
GO:0051453	Process	Regulation of intracellular pH	IMP	17510399
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145
GO:0098761	Process	Cellular response to interleukin-7	IEA
GO:1902600	Process	Proton transmembrane transport	IMP	17510399

Other IDs

• MIM: 102910
• HGNC: 830
• e!Ensembl: ENSG00000110955

Protein

• UniProt ID: P06576
• Protein name: ATP synthase subunit beta, mitochondrial (EC 7.1.2.2) (ATP synthase F1 subunit beta)
• Protein 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02874	ATP-synt_ab_N	63 → 129	ATP synthase alpha/beta family, beta-barrel domain	Domain
  PF00006	ATP-synt_ab	186 → 405	ATP synthase alpha/beta family, nucleotide-binding domain	Domain

• Sequence:

  MLGFVGRVAAAPASGALRRLTPSASLPPAQLLLRAAPTAVHPVRDYAAQTSPSPKAGAAT
  GRIVAVIGAVVDVQFDEGLPPILNALEVQGRETRLVLEVAQHLGESTVRTIAMDGTEGLV
  RGQKVLDSGAPIKIPVGPETLGRIMNVIGEPIDERGPIKTKQFAPIHAEAPEFMEMSVEQ
  EILVTGIKVVDLLAPYAKGGKIGLFGGAGVGKTVLIMELINNVAKAHGGYSVFAGVGERT
  REGNDLYHEMIESGVINLKDATSKVALVYGQMNEPPGARARVALTGLTVAEYFRDQEGQD
  VLLFIDNIFRFTQAGSEVSALLGRIPSAVGYQPTLATDMGTMQERITTTKKGSITSVQAI
  YVPADDLTDPAPATTFAHLDATTVLSRAIAELGIYPAVDPLDSTSRIMDPNIVGSEHYDV
  ARGVQKILQDYKSLQDIIAILGMDELSEEDKLTVSRARKIQRFLSQPFQVAEVFTGHMGK
  LVPLKETIKGFQQILAGEYDHLPEQAFYMVGPIEEAVAKADKLAEEHSS

• Sequence length: 529

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:

Mitochondrial protein import
Formation of ATP by chemiosmotic coupling
Transcriptional activation of mitochondrial biogenesis
Cristae formation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Spinocerebellar ataxia	SPINOCEREBELLAR ATAXIA 17	rs-1, rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	24413982

Unknown
Disease name	Disease term	dbSNP ID	References
Kidney failure	Kidney Failure, Acute		25666834
Acute kidney insufficiency	Acute Kidney Insufficiency		25666834