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Gene id 498
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol ATP5F1A   Gene   UCSC   Ensembl
Aliases ATP5A, ATP5A1, ATP5AL2, ATPM, COXPD22, HEL-S-123m, MC5DN4, MOM2, OMR, ORM, hATP1
Gene name ATP synthase F1 subunit alpha
Alternate names ATP synthase subunit alpha, mitochondrial, ATP synthase alpha chain, mitochondrial, ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, ,
Gene location 18q21.1 (46104232: 46080247)     Exons: 13     NC_000018.10
Gene summary(Entrez) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked
OMIM 164360

SNPs


rs55763075

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

NC_000001.11   g.11790377C>T
NC_000001.10   g.11850434C>T
NG_013351.1   g.20727G>A
NM_005957.5   c.*303G>A
NM_005957.4   c.*303G>A
NM_001330358.1   c.*303G>A
XM_005263460.5   c.*303G>A
XM_005263460.1   c.*303G>A
XM_005263463.4   c.*303G>A
XM_005263463.1   c.*303G>A
XM_0  

rs16968382

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

NC_000015.10   g.76586021A>C
NC_000015.9   g.76878362A>C|SEQ=[A/C]|GENE=SCAPER
MIR3713   100500855

rs4045481

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

NC_000004.12   g.1096837G>A
NC_000004.11   g.1090625G>A
NG_027812.2   g.21958C>T
NG_027812.1   g.21728C>T
NM_001131034.4   c.174C>T
NM_001131034.3   c.174C>T
NM_194439.4   c.174C>T
NM_001193318.3   c.174C>T
NM_001193318.2   c.174C>T
NR_159501.1   n.486C>T
NR_159498.1   n.

rs3816183

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

NC_000002.12   g.42788579T>C
NC_000002.11   g.43015719T>C
XM_005264230.4   c.109A>G
XM_005264230.1   c.109A>G
XM_011532730.3   c.7A>G
XM_011532729.3   c.109A>G
XM_011532731.3   c.109A>G
NM_012205.3   c.109A>G
NM_012205.2   c.109A>G
XM_017003717.2   c.7A>G
XM_024452774.1  

Protein Summary

Gene ontology

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GO accessionTerm nameEvidence codeGo category

KEGG pathways

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Pathway idPathway name
hsa01100Metabolic pathways
hsa04714Thermogenesis
hsa05010Alzheimer disease
hsa05012Parkinson disease
hsa05016Huntington disease
Associated diseases References
Cancer GAD: 19064571
Mitochondrial diseases OMIM: 164360
Endometriosis INFBASE: 16750201
ATP synthase deficiency KEGG: H01369
Combined oxidative phosphorylation deficiency 22 OMIM: 164360
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Spermatogenic defects MIK: 25926605
Asthenozoospermia MIK: 25926605
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25926605 Decreased
sperm qual
ity, Asthe
nozoosperm
ia

60 (30 men with
normal spermio
grams, 30 men w
ith asthenozoos
permia)
Male infertility
Show abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract