• Gene id: 509

Gene Summary

• Gene Symbol: ATP5F1C   Gene   UCSC   Ensembl
• Aliases: ATP5C, ATP5C1, ATP5CL1
• Gene name: ATP synthase F1 subunit gamma
• Alternate names: ATP synthase subunit gamma, mitochondrial, ATP synthase gamma chain, mitochondrial, ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1, F-ATPase gamma subunit, mitochondrial ATP synthase, gamma subunit 1,
• Gene location: 10p14 (7788103: 7807800)     Exons: 10     NC_000010.11
• 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: 108729

SNPs

rs113994148

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000011.10   g.66849026_66849027del
NC_000011.9   g.66616497_66616498del
NG_008319.1   g.114350_114351del
NM_000920.4   c.3409_3410del
NM_000920.3   c.3409_3410del
NM_022172.3   c.3409_3410del
NM_022172.2   c.3409_3410del
NM_001040716.2   c.3409_3410del
NM_0010407  

rs113994147

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

NC_000011.10   g.66850398G>A
NC_000011.9   g.66617869G>A
NG_008319.1   g.112979C>T
NM_000920.4   c.2540C>T
NM_000920.3   c.2540C>T
NM_022172.3   c.2540C>T
NM_022172.2   c.2540C>T
NM_001040716.2   c.2540C>T
NM_001040716.1   c.2540C>T
XM_005274031.4   c.2540C>T
XM_0052740  

rs113994146

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

NC_000011.10   g.66851149G>T
NC_000011.9   g.66618620G>T
NG_008319.1   g.112228C>A
NM_000920.4   c.2114C>A
NM_000920.3   c.2114C>A
NM_022172.3   c.2114C>A
NM_022172.2   c.2114C>A
NM_001040716.2   c.2114C>A
NM_001040716.1   c.2114C>A
XM_005274031.4   c.2114C>A
XM_0052740  

rs113994145

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

NC_000011.10   g.66851880C>T
NC_000011.9   g.66619351C>T
NG_008319.1   g.111497G>A
NM_000920.4   c.1892G>A
NM_000920.3   c.1892G>A
NM_022172.3   c.1892G>A
NM_022172.2   c.1892G>A
NM_001040716.2   c.1892G>A
NM_001040716.1   c.1892G>A
XM_005274031.4   c.1892G>A
XM_0052740  

rs113994144

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

NC_000011.10   g.66852559T>C
NC_000011.9   g.66620030T>C
NG_008319.1   g.110818A>G
NM_000920.4   c.1705A>G
NM_000920.3   c.1705A>G
NM_022172.3   c.1705A>G
NM_022172.2   c.1705A>G
NM_001040716.2   c.1705A>G
NM_001040716.1   c.1705A>G
XM_005274031.4   c.1705A>G
XM_0052740  

rs113994143

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

NC_000011.10   g.66863791G>A
NC_000011.9   g.66631262G>A
NG_008319.1   g.99586C>T
NM_000920.4   c.1351C>T
NM_000920.3   c.1351C>T
NM_022172.3   c.1351C>T
NM_022172.2   c.1351C>T
NM_001040716.2   c.1351C>T
NM_001040716.1   c.1351C>T
XM_005274031.4   c.1351C>T
XM_00527403  

rs113994141

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

NC_000011.10   g.66871824G>A
NC_000011.9   g.66639295G>A
NG_008319.1   g.91553C>T
NM_000920.4   c.184C>T
NM_000920.3   c.184C>T
NM_022172.3   c.184C>T
NM_022172.2   c.184C>T
NM_001040716.2   c.184C>T
NM_001040716.1   c.184C>T
XM_005274031.4   c.184C>T
XM_005274031.1   c.1

rs28940591

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

NC_000011.10   g.66871368A>C
NC_000011.10   g.66871368A>G
NC_000011.9   g.66638839A>C
NC_000011.9   g.66638839A>G
NG_008319.1   g.92009T>G
NG_008319.1   g.92009T>C
NM_000920.4   c.434T>G
NM_000920.4   c.434T>C
NM_000920.3   c.434T>G
NM_000920.3   c.434T>C
NM_022172.3   c.

rs28940590

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

NC_000011.10   g.66850918C>A
NC_000011.9   g.66618389C>A
NG_008319.1   g.112459G>T
NM_000920.4   c.2229G>T
NM_000920.3   c.2229G>T
NM_022172.3   c.2229G>T
NM_022172.2   c.2229G>T
NM_001040716.2   c.2229G>T
NM_001040716.1   c.2229G>T
XM_005274031.4   c.2229G>T
XM_0052740  

rs28940589

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

NC_000011.10   g.66851944C>T
NC_000011.9   g.66619415C>T
NG_008319.1   g.111433G>A
NM_000920.4   c.1828G>A
NM_000920.3   c.1828G>A
NM_022172.3   c.1828G>A
NM_022172.2   c.1828G>A
NM_001040716.2   c.1828G>A
NM_001040716.1   c.1828G>A
XM_005274031.4   c.1828G>A
XM_0052740  

rs7104156

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

NC_000011.10   g.66871781T>A
NC_000011.9   g.66639252T>A
NG_008319.1   g.91596A>T
NM_000920.4   c.227A>T
NM_000920.3   c.227A>T
NM_022172.3   c.227A>T
NM_022172.2   c.227A>T
NM_001040716.2   c.227A>T
NM_001040716.1   c.227A>T
XM_005274031.4   c.227A>T
XM_005274031.1   c.2

Protein Summary

• Protein general information: P36542  
  • Name: ATP synthase subunit gamma, mitochondrial (ATP synthase F1 subunit gamma) (F ATPase gamma subunit)
  • Length: 298  
  • Mass: 32996
  • Tissue specificity: Isoform Heart is expressed specifically in the heart and skeletal muscle, which require rapid energy supply. Isoform Liver is expressed in the brain, liver and kidney. Isoform Heart and Isoform Liver are expressed in the skin, intestin
• Sequence:

  MFSRAGVAGLSAWTLQPQWIQVRNMATLKDITRRLKSIKNIQKITKSMKMVAAAKYARAERELKPARIYGLGSLA
  LYEKADIKGPEDKKKHLLIGVSSDRGLCGAIHSSIAKQMKSEVATLTAAGKEVMLVGIGDKIRGILYRTHSDQFL
  VAFKEVGRKPPTFGDASVIALELLNSGYEFDEGSIIFNKFRSVISYKTEEKPIFSLNTVASADSMSIYDDIDADV
  LQNYQEYNLANIIYYSLKESTTSEQSARMTAMDNASKNASEMIDKLTLTFNRTRQAVITKELIEIISGAAALD

• Structural information:
  • Interpro: IPR035968  IPR000131  IPR023632  
  • Prosite: PS00153
  • CDD: cd12151
  • STRING: ENSP00000349142
• Other Databases: GeneCards:  ATP5F1C  Malacards:  ATP5F1C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015986	ATP synthesis coupled proton transport	IBA	biological process
GO:0006754	ATP biosynthetic process	IBA	biological process
GO:0000275	mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1)	IBA	cellular component
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:0046933	proton-transporting ATP synthase activity, rotational mechanism	IEA	molecular function
GO:0006754	ATP biosynthetic process	IEA	biological process
GO:0045261	proton-transporting ATP synthase complex, catalytic core F(1)	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	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:0042776	mitochondrial ATP synthesis coupled proton transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0042776	mitochondrial ATP synthesis coupled proton transport	IDA	biological process
GO:0005753	mitochondrial proton-transporting ATP synthase complex	IDA	cellular component
GO:0046933	proton-transporting ATP synthase activity, rotational mechanism	IDA	contributes to
GO:0016020	membrane	HDA	cellular component
GO:0000275	mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1)	NAS	cellular component
GO:0006119	oxidative phosphorylation	NAS	biological process
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0005739	mitochondrion	ISS	cellular component
GO:0006754	ATP biosynthetic process	NAS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0016887	ATPase activity	NAS	contributes to
GO:0005739	mitochondrion	NAS	cellular component
GO:0005739	mitochondrion	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
obesity	PMID:19549744
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray