• Gene id: 513

Gene Summary

• Gene Symbol: ATP5F1D   Gene   UCSC   Ensembl
• Aliases: ATP5D, MC5DN5
• Gene name: ATP synthase F1 subunit delta
• Alternate names: ATP synthase subunit delta, mitochondrial, ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit, F-ATPase delta subunit, mitochondrial ATP synthase complex delta-subunit precusor, mitochondrial ATP synthase, delta subunit,
• Gene location: 19p13.3 (67838187: 67796664)     Exons: 6     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: 603150

SNPs

rs587777044

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000003.12   g.50343331dup
NC_000003.11   g.50380762dup
NG_023270.1   g.2606dup
NG_042828.1   g.7416dup
NM_015896.4   c.486dup
NM_015896.3   c.486dup
NM_015896.2   c.486dup
NM_001308379.2   c.486dup
NM_001308379.1   c.486dup
XM_005265216.3   c.249dup
XM_005265216.1   c.

rs587777043

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000003.12   g.50343753del
NC_000003.11   g.50381184del
NG_023270.1   g.2185del
NG_042828.1   g.6995del
NM_015896.4   c.300del
NM_015896.3   c.300del
NM_015896.2   c.300del
NM_001308379.2   c.300del
NM_001308379.1   c.300del
XM_005265216.3   c.63del
XM_005265216.1   c.6

rs397515460

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

NC_000003.12   g.50342047G>A
NC_000003.11   g.50379478G>A
NG_023270.1   g.3890C>T
NG_042828.1   g.8700C>T
NM_015896.4   c.967C>T
NM_015896.3   c.967C>T
NM_015896.2   c.967C>T
NM_001308379.2   c.952C>T
NM_001308379.1   c.952C>T
XM_005265216.3   c.730C>T
XM_005265216.1   c.

rs200913791

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

NC_000003.12   g.50342473A>G
NC_000003.11   g.50379904A>G
NG_023270.1   g.3464T>C
NG_042828.1   g.8274T>C
NM_015896.4   c.797T>C
NM_015896.3   c.797T>C
NM_015896.2   c.797T>C
NM_001308379.2   c.782T>C
NM_001308379.1   c.782T>C
XM_005265216.3   c.560T>C
XM_005265216.1   c.

rs138815960

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

NC_000003.12   g.50345533A>C
NC_000003.11   g.50382964A>C
NG_023270.1   g.404T>G
NG_042828.1   g.5214T>G
NM_015896.4   c.47T>G
NM_015896.3   c.47T>G
NM_015896.2   c.47T>G
NM_001308379.2   c.47T>G
NM_001308379.1   c.47T>G
XM_005265216.3   c.-82T>G
XM_005265216.1   c.-82T>G

rs121918300

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

NC_000007.14   g.37888306T>A
NC_000007.14   g.37888306T>C
NC_000007.13   g.37927908T>A
NC_000007.13   g.37927908T>C
NG_015893.1   g.44710T>A
NG_015893.1   g.44710T>C
NM_016616.4   c.1277T>A
NM_016616.4   c.1277T>C
NM_016616.5   c.1277T>A
NM_016616.5   c.1277T>C
NP_05770  

rs117149381

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

NC_000007.14   g.37862001C>T
NC_000007.13   g.37901603C>T
NG_015893.1   g.18405C>T|SEQ=[C/T]|GENE=NME8

rs6476866

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

NC_000009.12   g.4459274G>A
NC_000009.12   g.4459274G>C
NC_000009.11   g.4459274G>A
NC_000009.11   g.4459274G>C|SEQ=[G/A/C]

rs2287498

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

NC_000017.11   g.7689242C>T
NC_000017.10   g.7592560C>T
NG_017013.2   g.3309G>A
NG_028245.1   g.8172C>T
NM_018081.2   c.450C>T
NM_001143991.2   c.450C>T
NM_001143991.1   c.450C>T
NM_001143992.2   c.450C>T
NM_001143992.1   c.450C>T
NM_001143990.1   c.450C>T
XR_001752551.  

rs2855658

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

NC_000002.12   g.38069747T>C
NC_000002.11   g.38296890T>C
NG_008386.2   g.11355A>G
NM_000104.3   c.*975A>G|SEQ=[T/C]|GENE=CYP1B1
RMDN2   151393

rs1801133

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

NC_000001.11   g.11796321G>A
NC_000001.11   g.11796321G>C
NC_000001.10   g.11856378G>A
NC_000001.10   g.11856378G>C
NG_013351.1   g.14783C>T
NG_013351.1   g.14783C>G
NM_005957.5   c.665C>T
NM_005957.5   c.665C>G
NM_005957.4   c.665C>T
NM_005957.4   c.665C>G
NM_001330358  

Protein Summary

• Protein general information: P30049  
  • Name: ATP synthase subunit delta, mitochondrial (ATP synthase F1 subunit delta) (F ATPase delta subunit)
  • Length: 168  
  • Mass: 17490
• Sequence:

  MLPAALLRRPGLGRLVRHARAYAEAAAAPAAASGPNQMSFTFASPTQVFFNGANVRQVDVPTLTGAFGILAAHVP
  TLQVLRPGLVVVHAEDGTTSKYFVSSGSIAVNADSSVQLLAEEAVTLDMLDLGAAKANLEKAQAELVGTADEATR
  AEIQIRIEANEALVKALE

• Structural information:
  • Interpro: IPR036794  IPR001469  IPR020546  IPR036771  
  • CDD: cd12152
  • STRING: ENSP00000215375
• Other Databases: GeneCards:  ATP5F1D  Malacards:  ATP5F1D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015986	ATP synthesis coupled proton transport	IBA	biological process
GO:0000275	mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1)	IBA	cellular component
GO:0009060	aerobic respiration	IMP	biological process
GO:0033615	mitochondrial proton-transporting ATP synthase complex assembly	IMP	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: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:0006811	ion transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
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: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:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
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:0000275	mitochondrial proton-transporting ATP synthase complex, catalytic sector F(1)	NAS	cellular component
GO:0043531	ADP binding	NAS	contributes to
GO:0016887	ATPase activity	NAS	molecular function
GO:0005753	mitochondrial proton-transporting ATP synthase complex	NAS	cellular component
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0005524	ATP binding	NAS	contributes to
GO:0042776	mitochondrial ATP synthesis coupled proton transport	NAS	biological process
GO:0006754	ATP biosynthetic process	NAS	biological process
GO:0046688	response to copper ion	NAS	biological process
GO:0006119	oxidative phosphorylation	NAS	biological process
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
Alzheimer's disease	PMID:28474567
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq