KEGG   Homo sapiens (human): 529
Entry
529               CDS       T01001                                 

Gene name
ATP6V1E1, ARCL2C, ATP6E, ATP6E2, ATP6V1E, P31, Vma4
Definition
(RefSeq) ATPase H+ transporting V1 subunit E1
  KO
K02150  V-type H+-transporting ATPase subunit E
Organism
hsa  Homo sapiens (human)
Pathway
hsa00190  Oxidative phosphorylation
hsa01100  Metabolic pathways
hsa04145  Phagosome
hsa04150  mTOR signaling pathway
hsa04721  Synaptic vesicle cycle
hsa04966  Collecting duct acid secretion
hsa05110  Vibrio cholerae infection
hsa05120  Epithelial cell signaling in Helicobacter pylori infection
hsa05165  Human papillomavirus infection
hsa05323  Rheumatoid arthritis
Module
hsa_M00160  V-type ATPase, eukaryotes
Disease
H00557  Cutis laxa
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    529 (ATP6V1E1)
 09130 Environmental Information Processing
  09132 Signal transduction
   04150 mTOR signaling pathway
    529 (ATP6V1E1)
 09140 Cellular Processes
  09141 Transport and catabolism
   04145 Phagosome
    529 (ATP6V1E1)
 09150 Organismal Systems
  09155 Excretory system
   04966 Collecting duct acid secretion
    529 (ATP6V1E1)
  09156 Nervous system
   04721 Synaptic vesicle cycle
    529 (ATP6V1E1)
 09160 Human Diseases
  09163 Immune disease
   05323 Rheumatoid arthritis
    529 (ATP6V1E1)
  09171 Infectious disease: bacterial
   05110 Vibrio cholerae infection
    529 (ATP6V1E1)
   05120 Epithelial cell signaling in Helicobacter pylori infection
    529 (ATP6V1E1)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    529 (ATP6V1E1)
SSDB
Motif
Pfam: vATP-synt_E DUF4288 NifW
Other DBs
NCBI-GeneID: 529
NCBI-ProteinID: NP_001687
OMIM: 108746
HGNC: 857
Ensembl: ENSG00000131100
Vega: OTTHUMG00000059320
Pharos: P36543(Tbio)
UniProt: P36543 Q53Y06
Position
22q11.21
AA seq 226 aa
MALSDADVQKQIKHMMAFIEQEANEKAEEIDAKAEEEFNIEKGRLVQTQRLKIMEYYEKK
EKQIEQQKKIQMSNLMNQARLKVLRARDDLITDLLNEAKQRLSKVVKDTTRYQVLLDGLV
LQGLYQLLEPRMIVRCRKQDFPLVKAAVQKAIPMYKIATKNDVDVQIDQESYLPEDIAGG
VEIYNGDRKIKVSNTLESRLDLIAQQMMPEVRGALFGANANRKFLD
NT seq 681 nt   +upstreamnt  +downstreamnt
atggctctcagcgatgctgacgtgcaaaagcagataaagcatatgatggctttcattgaa
caagaagccaatgagaaagcagaagaaatagatgcaaaggcagaagaagagttcaacata
gagaaaggtcggcttgtgcaaacccaaagactaaagattatggaatattatgagaagaaa
gagaaacagattgagcagcagaagaaaattcagatgtccaatttgatgaatcaagcgaga
ctcaaagtcctcagagcaagagatgaccttatcacagacctactaaatgaagcaaaacag
agactcagcaaggtggtaaaagatacaaccaggtaccaagtgctgctggatggactggtt
ctccagggtttgtaccagttgctggagccccgaatgattgttcgttgcaggaaacaagat
ttccctctggtaaaggctgcagtgcagaaggcaattcctatgtacaaaattgccaccaaa
aacgatgttgatgtccaaattgaccaggagtcctacctgcctgaagacatagctggtgga
gttgagatctataatggagatcgtaaaataaaggtttccaacaccctggaaagccggctg
gatctcatagcccagcagatgatgccagaagtccggggagccttgtttggtgcaaatgcc
aacaggaagtttttggactaa

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