KEGG   Homo sapiens (human): 516
Entry
516               CDS       T01001                                 
Symbol
ATP5MC1, ATP5A, ATP5G, ATP5G1
Name
(RefSeq) ATP synthase membrane subunit c locus 1
  KO
K02128  F-type H+-transporting ATPase subunit c
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00158  F-type ATPase, eukaryotes
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    516 (ATP5MC1)
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    516 (ATP5MC1)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    516 (ATP5MC1)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    516 (ATP5MC1)
   05012 Parkinson disease
    516 (ATP5MC1)
   05014 Amyotrophic lateral sclerosis
    516 (ATP5MC1)
   05016 Huntington disease
    516 (ATP5MC1)
   05020 Prion disease
    516 (ATP5MC1)
   05022 Pathways of neurodegeneration - multiple diseases
    516 (ATP5MC1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    516 (ATP5MC1)
SSDB
Motif
Pfam: ATP-synt_C
Other DBs
NCBI-GeneID: 516
NCBI-ProteinID: NP_001002027
OMIM: 603192
HGNC: 841
Ensembl: ENSG00000159199
Pharos: P05496(Tbio)
UniProt: P05496 Q6FIH7
Structure
LinkDB
Position
17:48892787..48895871
AA seq 136 aa
MQTAGALFISPALIRCCTRGLIRPVSASFLNSPVNSSKQPSYSNFPLQVARREFQTSVVS
RDIDTAAKFIGAGAATVGVAGSGAGIGTVFGSLIIGYARNPSLKQQLFSYAILGFALSEA
MGLFCLMVAFLILFAM
NT seq 411 nt   +upstreamnt  +downstreamnt
atgcagaccgccggggcattattcatttctccagctctgatccgctgttgtaccaggggt
ctaatcaggcctgtgtctgcctccttcttgaatagcccagtgaattcatctaaacagcct
tcctacagcaacttcccactccaggtggccagacgggagttccagaccagtgttgtctcc
cgggacattgacacagcagccaagtttattggtgctggggcagccacagttggtgtggct
ggttcaggggctggcattggaaccgtgtttggcagcttgatcattggctatgccaggaac
ccgtctctcaagcagcagctcttctcctatgccattcttggctttgccctgtctgaggcc
atggggcttttctgtttgatggtcgccttcctcatcctcttcgccatgtga

KEGG   Homo sapiens (human): 517
Entry
517               CDS       T01001                                 
Symbol
ATP5MC2, ATP5A, ATP5G2
Name
(RefSeq) ATP synthase membrane subunit c locus 2
  KO
K02128  F-type H+-transporting ATPase subunit c
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00158  F-type ATPase, eukaryotes
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    517 (ATP5MC2)
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    517 (ATP5MC2)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    517 (ATP5MC2)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    517 (ATP5MC2)
   05012 Parkinson disease
    517 (ATP5MC2)
   05014 Amyotrophic lateral sclerosis
    517 (ATP5MC2)
   05016 Huntington disease
    517 (ATP5MC2)
   05020 Prion disease
    517 (ATP5MC2)
   05022 Pathways of neurodegeneration - multiple diseases
    517 (ATP5MC2)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    517 (ATP5MC2)
SSDB
Motif
Pfam: ATP-synt_C
Other DBs
NCBI-GeneID: 517
NCBI-ProteinID: NP_001317198
OMIM: 603193
HGNC: 842
Ensembl: ENSG00000135390
Pharos: Q06055(Tbio)
UniProt: Q06055
LinkDB
Position
12:complement(53665170..53681423)
AA seq 141 aa
MFACSKFVSTPSLVKSTSQLLSRPLSAVVLKRPEILTDESLSSLAVSCPLTSLVSSRSFQ
TSAISRDIDTAAKFIGAGAATVGVAGSGAGIGTVFGSLIIGYARNPSLKQQLFSYAILGF
ALSEAMGLFCLMVAFLILFAM
NT seq 426 nt   +upstreamnt  +downstreamnt
atgttcgcctgctccaagtttgtctccactccctccttggtcaagagcacctcacagctg
ctgagccgtccgctatctgcagtggtgctgaaacgaccggagatactgacagatgagagc
ctcagcagcttggcagtctcatgtccccttacctcacttgtctctagccgcagcttccaa
accagcgccatttcaagggacatcgacacagcagccaagttcattggagctggggctgcc
acagttggggtggctggttctggggctgggattggaactgtgtttgggagcctcatcatt
ggttatgccaggaacccttctctgaagcaacagctcttctcctacgccattctgggcttt
gccctctcggaggccatggggctcttttgtctgatggtagcctttctcatcctctttgcc
atgtga

KEGG   Homo sapiens (human): 518
Entry
518               CDS       T01001                                 
Symbol
ATP5MC3, ATP5G3, DYTSPG, P3
Name
(RefSeq) ATP synthase membrane subunit c locus 3
  KO
K02128  F-type H+-transporting ATPase subunit c
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04714  Thermogenesis
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05415  Diabetic cardiomyopathy
Module
hsa_M00158  F-type ATPase, eukaryotes
Disease
H02706  Early-onset dystonia and/or spastic paraplegia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    518 (ATP5MC3)
 09150 Organismal Systems
  09159 Environmental adaptation
   04714 Thermogenesis
    518 (ATP5MC3)
 09160 Human Diseases
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    518 (ATP5MC3)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    518 (ATP5MC3)
   05012 Parkinson disease
    518 (ATP5MC3)
   05014 Amyotrophic lateral sclerosis
    518 (ATP5MC3)
   05016 Huntington disease
    518 (ATP5MC3)
   05020 Prion disease
    518 (ATP5MC3)
   05022 Pathways of neurodegeneration - multiple diseases
    518 (ATP5MC3)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    518 (ATP5MC3)
SSDB
Motif
Pfam: ATP-synt_C TM1506 Phage_holin_3_6
Other DBs
NCBI-GeneID: 518
NCBI-ProteinID: NP_001002258
OMIM: 602736
HGNC: 843
Ensembl: ENSG00000154518
Pharos: P48201(Tdark)
UniProt: P48201
LinkDB
Position
2:complement(175176258..175181710)
AA seq 142 aa
MFACAKLACTPSLIRAGSRVAYRPISASVLSRPEASRTGEGSTVFNGAQNGVSQLIQREF
QTSAISRDIDTAAKFIGAGAATVGVAGSGAGIGTVFGSLIIGYARNPSLKQQLFSYAILG
FALSEAMGLFCLMVAFLILFAM
NT seq 429 nt   +upstreamnt  +downstreamnt
atgttcgcctgcgccaagctcgcctgcaccccctctctgatccgagctggatccagagtt
gcatacagaccaatttctgcatcagtgttatctcgaccagaggctagtaggactggagag
ggctctacggtatttaatggggcccagaatggtgtgtctcagctaatccaaagggagttt
cagaccagtgcaatcagcagagacattgatactgctgccaaatttattggtgcaggtgct
gcaacagtaggagtggctggttctggtgctggtattggaacagtctttggcagccttatc
attggttatgccagaaacccttcgctgaagcagcagctgttctcatatgctatcctggga
tttgccttgtctgaagctatgggtctcttttgtttgatggttgctttcttgattttgttt
gccatgtaa

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