KEGG   Homo sapiens (human): 523
Entry
523               CDS       T01001                                 
Symbol
ATP6V1A, ARCL2D, ATP6A1, ATP6V1A1, DEE93, HO68, IECEE3, VA68, VPP2, Vma1
Name
(RefSeq) ATPase H+ transporting V1 subunit A
  KO
K02145  V-type H+-transporting ATPase subunit A [EC:7.1.2.2]
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
H00606  Early infantile epileptic encephalopathy
H02150  Infantile or early childhood epileptic encephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09102 Energy metabolism
   00190 Oxidative phosphorylation
    523 (ATP6V1A)
 09130 Environmental Information Processing
  09132 Signal transduction
   04150 mTOR signaling pathway
    523 (ATP6V1A)
 09140 Cellular Processes
  09141 Transport and catabolism
   04145 Phagosome
    523 (ATP6V1A)
 09150 Organismal Systems
  09155 Excretory system
   04966 Collecting duct acid secretion
    523 (ATP6V1A)
  09156 Nervous system
   04721 Synaptic vesicle cycle
    523 (ATP6V1A)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    523 (ATP6V1A)
  09171 Infectious disease: bacterial
   05110 Vibrio cholerae infection
    523 (ATP6V1A)
   05120 Epithelial cell signaling in Helicobacter pylori infection
    523 (ATP6V1A)
  09163 Immune disease
   05323 Rheumatoid arthritis
    523 (ATP6V1A)
Enzymes [BR:hsa01000]
 7. Translocases
  7.1  Catalysing the translocation of protons
   7.1.2  Linked to the hydrolysis of a nucleoside triphosphate
    7.1.2.2  H+-transporting two-sector ATPase
     523 (ATP6V1A)
SSDB
Motif
Pfam: ATP-synt_ab ATP-synt_ab_Xtn ATP-synt_VA_C ATP-synt_ab_N
Other DBs
NCBI-GeneID: 523
NCBI-ProteinID: NP_001681
OMIM: 607027
HGNC: 851
Ensembl: ENSG00000114573
Pharos: P38606(Tbio)
UniProt: P38606
Structure
LinkDB
Position
3:113747035..113812056
AA seq 617 aa
MDFSKLPKILDEDKESTFGYVHGVSGPVVTACDMAGAAMYELVRVGHSELVGEIIRLEGD
MATIQVYEETSGVSVGDPVLRTGKPLSVELGPGIMGAIFDGIQRPLSDISSQTQSIYIPR
GVNVSALSRDIKWDFTPCKNLRVGSHITGGDIYGIVSENSLIKHKIMLPPRNRGTVTYIA
PPGNYDTSDVVLELEFEGVKEKFTMVQVWPVRQVRPVTEKLPANHPLLTGQRVLDALFPC
VQGGTTAIPGAFGCGKTVISQSLSKYSNSDVIIYVGCGERGNEMSEVLRDFPELTMEVDG
KVESIMKRTALVANTSNMPVAAREASIYTGITLSEYFRDMGYHVSMMADSTSRWAEALRE
ISGRLAEMPADSGYPAYLGARLASFYERAGRVKCLGNPEREGSVSIVGAVSPPGGDFSDP
VTSATLGIVQVFWGLDKKLAQRKHFPSVNWLISYSKYMRALDEYYDKHFTEFVPLRTKAK
EILQEEEDLAEIVQLVGKASLAETDKITLEVAKLIKDDFLQQNGYTPYDRFCPFYKTVGM
LSNMIAFYDMARRAVETTAQSDNKITWSIIREHMGDILYKLSSMKFKDPLKDGEAKIKSD
YAQLLEDMQNAFRSLED
NT seq 1854 nt   +upstreamnt  +downstreamnt
atggatttttccaagctacccaaaatactcgatgaagataaagaaagcacatttggttat
gtgcatggggtctcaggacctgtggttacagcctgtgacatggcgggtgcagccatgtat
gagctggtgagagtgggccacagcgaattggttggagagattattcgattggagggtgac
atggctactattcaggtgtatgaagaaacttctggtgtgtctgttggagatcctgtactt
cgcactggtaaacccctctctgtagagcttggtcctggcattatgggagccatttttgat
ggtattcaaagacctttgtcggatatcagcagtcagacccaaagcatctacatccccaga
ggagtaaacgtgtctgctcttagcagagatatcaaatgggactttacaccttgcaaaaac
ctacgggttggtagtcatatcactggcggagacatttatggaattgtcagtgagaactcg
cttatcaaacacaaaatcatgttacccccacgaaacagaggaactgtaacttacattgct
ccacctgggaattatgatacctctgatgttgtcttggagcttgaatttgaaggtgtaaag
gagaagttcaccatggtgcaagtatggcctgtacgtcaagttcgacctgtcactgagaag
ctgccagccaatcatcctctgttgactggccagagagtccttgatgccctttttccgtgt
gtccagggaggaactactgctatccctggagcctttggctgtggaaagacagtgatatca
cagtctctatccaagtattctaacagtgatgtaatcatctatgtaggatgtggtgaaaga
ggaaatgagatgtctgaagtcctccgggacttcccagagctcacaatggaggttgatggt
aaggtagagtcaattatgaagaggacagctttggtagccaatacctccaatatgcctgtt
gctgctagagaagcctctatttatactggaatcacactgtcagagtacttccgtgacatg
ggctatcatgtcagtatgatggctgactctacctctagatgggctgaggcccttagagaa
atctctggtcgtttagctgaaatgcctgcagatagtggatatccagcctatcttggtgcc
cgtctggcctcgttttatgaacgagcaggcagggtgaaatgtcttggaaatcctgaaaga
gaagggagtgtcagcattgtaggagcagtttctccacctggtggtgatttttctgatcca
gttacatctgccactcttggtatcgttcaggtgttctggggcttagataagaaactagct
caacgtaagcatttcccctctgtcaattggctcatcagctacagcaagtatatgcgtgcc
ttggatgaatactatgacaaacacttcacagagttcgttcctctgaggacgaaagctaag
gaaattctgcaggaagaagaagacctggcagaaattgtacagcttgtgggaaaggcttct
ttggcagaaacagataaaatcactctggaggtagcaaaacttatcaaagatgatttccta
caacaaaatggatatactccttatgacaggttctgcccattctacaagacagtagggatg
ctgtccaacatgattgcattttatgatatggctcgtagagctgttgaaaccactgcccag
agtgacaataaaatcacatggtccattattcgtgagcacatgggagacatcctctataaa
ctttcctccatgaaattcaaggatccactgaaagatggtgaggcaaagatcaaaagcgac
tatgcacaacttcttgaagacatgcagaatgcattccgtagccttgaagattag

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