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A repository for genes associated with endometriosis

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Gene id 506
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 (56646067: 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 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]
OMIM 102910

Protein Summary

Protein general information P06576  

Name: ATP synthase subunit beta, mitochondrial (EC 3.6.3.14) (ATP synthase F1 subunit beta)

Length: 529  Mass: 56,560

Sequence MLGFVGRVAAAPASGALRRLTPSASLPPAQLLLRAAPTAVHPVRDYAAQTSPSPKAGAATGRIVAVIGAVVDVQF
DEGLPPILNALEVQGRETRLVLEVAQHLGESTVRTIAMDGTEGLVRGQKVLDSGAPIKIPVGPETLGRIMNVIGE
PIDERGPIKTKQFAPIHAEAPEFMEMSVEQEILVTGIKVVDLLAPYAKGGKIGLFGGAGVGKTVLIMELINNVAK
AHGGYSVFAGVGERTREGNDLYHEMIESGVINLKDATSKVALVYGQMNEPPGARARVALTGLTVAEYFRDQEGQD
VLLFIDNIFRFTQAGSEVSALLGRIPSAVGYQPTLATDMGTMQERITTTKKGSITSVQAIYVPADDLTDPAPATT
FAHLDATTVLSRAIAELGIYPAVDPLDSTSRIMDPNIVGSEHYDVARGVQKILQDYKSLQDIIAILGMDELSEED
KLTVSRARKIQRFLSQPFQVAEVFTGHMGKLVPLKETIKGFQQILAGEYDHLPEQAFYMVGPIEEAVAKADKLAE
EHSS
Structural information
Interpro:  IPR003593 IPR005722 IPR020003 IPR004100 IPR036121 IPR000194 IPR024034 IPR027417
Prosite:   PS00152

Pfam:  
PF00006 PF02874
MINT:  
STRING:   ENSP00000262030;
Other Databases GeneCards:  ATP5B;  Malacards:  ATP5B

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001525 angiogenesis
IMP biological_process
GO:0001649 osteoblast differentiatio
n
IDA biological_process
GO:0005215 transporter activity
NAS 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:0005524 ATP binding
IEA molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005753 mitochondrial proton-tran
sporting ATP synthase com
plex
IDA cellular_component
GO:0005754 mitochondrial proton-tran
sporting ATP synthase, ca
talytic core
NAS cellular_component
GO:0005759 mitochondrial matrix
NAS 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:0005886 plasma membrane
IDA cellular_component
GO:0006091 generation of precursor m
etabolites and energy
NAS biological_process
GO:0006629 lipid metabolic process
IEA biological_process
GO:0006754 ATP biosynthetic process
IMP biological_process
GO:0006754 ATP biosynthetic process
TAS biological_process
GO:0006754 ATP biosynthetic process
TAS biological_process
GO:0006933 negative regulation of ce
ll adhesion involved in s
ubstrate-bound cell migra
tion
IEA biological_process
GO:0007005 mitochondrion organizatio
n
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0015991 ATP hydrolysis coupled pr
oton transport
IEA biological_process
GO:0015992 proton transport
IMP biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0022857 transmembrane transporter
activity
IC molecular_function
GO:0031966 mitochondrial membrane
IDA cellular_component
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042645 mitochondrial nucleoid
IDA cellular_component
GO:0042776 mitochondrial ATP synthes
is coupled proton transpo
rt
IC biological_process
GO:0042776 mitochondrial ATP synthes
is coupled proton transpo
rt
TAS biological_process
GO:0043209 myelin sheath
IEA cellular_component
GO:0046933 proton-transporting ATP s
ynthase activity, rotatio
nal mechanism
IEA molecular_function
GO:0046961 proton-transporting ATPas
e activity, rotational me
chanism
IMP molecular_function
GO:0051453 regulation of intracellul
ar pH
IMP biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0016887 ATPase activity
IDA molecular_function
GO:0000166 nucleotide binding
IEA molecular_function
GO:0001525 angiogenesis
IMP biological_process
GO:0001649 osteoblast differentiatio
n
IDA biological_process
GO:0005215 transporter activity
NAS 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:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005743 mitochondrial inner membr
ane
IEA cellular_component
GO:0005743 mitochondrial inner membr
ane
IEA cellular_component
GO:0005743 mitochondrial inner membr
ane
IEA cellular_component
GO:0005753 mitochondrial proton-tran
sporting ATP synthase com
plex
IDA cellular_component
GO:0005754 mitochondrial proton-tran
sporting ATP synthase, ca
talytic core
NAS cellular_component
GO:0005759 mitochondrial matrix
NAS 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:0005886 plasma membrane
IDA cellular_component
GO:0006091 generation of precursor m
etabolites and energy
NAS biological_process
GO:0006629 lipid metabolic process
IEA biological_process
GO:0006754 ATP biosynthetic process
IEA biological_process
GO:0006754 ATP biosynthetic process
IMP biological_process
GO:0006754 ATP biosynthetic process
TAS biological_process
GO:0006754 ATP biosynthetic process
TAS biological_process
GO:0006810 transport
IEA biological_process
GO:0006811 ion transport
IEA biological_process
GO:0006933 negative regulation of ce
ll adhesion involved in s
ubstrate-bound cell migra
tion
IEA biological_process
GO:0007005 mitochondrion organizatio
n
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0015986 ATP synthesis coupled pro
ton transport
IEA biological_process
GO:0015991 ATP hydrolysis coupled pr
oton transport
IEA biological_process
GO:0015992 proton transport
IEA biological_process
GO:0015992 proton transport
IEA biological_process
GO:0015992 proton transport
IMP biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016787 hydrolase activity
IEA molecular_function
GO:0016820 hydrolase activity, actin
g on acid anhydrides, cat
alyzing transmembrane mov
ement of substances
IEA molecular_function
GO:0022857 transmembrane transporter
activity
IC molecular_function
GO:0031966 mitochondrial membrane
IDA cellular_component
GO:0033178 proton-transporting two-s
ector ATPase complex, cat
alytic domain
IEA cellular_component
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042645 mitochondrial nucleoid
IDA cellular_component
GO:0042776 mitochondrial ATP synthes
is coupled proton transpo
rt
IC biological_process
GO:0042776 mitochondrial ATP synthes
is coupled proton transpo
rt
TAS biological_process
GO:0043209 myelin sheath
IEA cellular_component
GO:0045261 proton-transporting ATP s
ynthase complex, catalyti
c core F(1)
IEA cellular_component
GO:0046034 ATP metabolic process
IEA biological_process
GO:0046933 proton-transporting ATP s
ynthase activity, rotatio
nal mechanism
IEA molecular_function
GO:0046961 proton-transporting ATPas
e activity, rotational me
chanism
IMP molecular_function
GO:0051453 regulation of intracellul
ar pH
IMP biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0016887 ATPase activity
IDA molecular_function
GO:0001525 angiogenesis
IMP biological_process
GO:0001649 osteoblast differentiatio
n
IDA biological_process
GO:0005215 transporter activity
NAS 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:0005634 nucleus
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005753 mitochondrial proton-tran
sporting ATP synthase com
plex
IDA cellular_component
GO:0005754 mitochondrial proton-tran
sporting ATP synthase, ca
talytic core
NAS cellular_component
GO:0005759 mitochondrial matrix
NAS 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:0005886 plasma membrane
IDA cellular_component
GO:0006091 generation of precursor m
etabolites and energy
NAS biological_process
GO:0006754 ATP biosynthetic process
IMP biological_process
GO:0006754 ATP biosynthetic process
TAS biological_process
GO:0006754 ATP biosynthetic process
TAS biological_process
GO:0007005 mitochondrion organizatio
n
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0015992 proton transport
IMP biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0022857 transmembrane transporter
activity
IC molecular_function
GO:0031966 mitochondrial membrane
IDA cellular_component
GO:0042288 MHC class I protein bindi
ng
IDA molecular_function
GO:0042645 mitochondrial nucleoid
IDA cellular_component
GO:0042776 mitochondrial ATP synthes
is coupled proton transpo
rt
IC biological_process
GO:0042776 mitochondrial ATP synthes
is coupled proton transpo
rt
TAS biological_process
GO:0046961 proton-transporting ATPas
e activity, rotational me
chanism
IMP molecular_function
GO:0051453 regulation of intracellul
ar pH
IMP biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0016887 ATPase activity
IDA molecular_function

KEGG pathways

hsa00190  Oxidative phosphorylation
hsa05010  Alzheimer's disease
hsa05012  Parkinson's disease
hsa05016  Huntington's disease
hsa04714  Thermogenesis
hsa01100  Metabolic pathways

Diseases

Associated diseases References
Endometriosis INFBASE16750201

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16750201 Endometrio
sis


Vimentin
beta-actin
ATP synthase beta
Show abstract