KEGG   Homo sapiens (human): 166378
Entry
166378            CDS       T01001                                 
Symbol
AFG2A, AFG2, EHLMRS, NEDHSB, SPAF, SPATA5
Name
(RefSeq) AFG2 AAA ATPase homolog A
  KO
K14575  AAA family ATPase
Organism
hsa  Homo sapiens (human)
Pathway
hsa03008  Ribosome biogenesis in eukaryotes
Disease
H02470  Neurodevelopmental disorder with structural brain abnormalities
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03008 Ribosome biogenesis in eukaryotes
    166378 (AFG2A)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03009 Ribosome biogenesis [BR:hsa03009]
    166378 (AFG2A)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic type
  Pre-60S particles
   Export and cytoplasmic maturation factors
    166378 (AFG2A)
SSDB
Motif
Pfam: AAA AAA_lid_3 RuvB_N AAA_16 AAA_5 TIP49 AAA_22 AAA_28 Mg_chelatase AAA_25 AAA_33 nSTAND3 AAA_2 RNA_helicase Parvo_NS1 AAA_7 IstB_IS21 AAA_14 AAA_18 Rad17 AAA_3 ATPase Zeta_toxin AAA_17 TsaE bpMoxR DUF815 Sigma54_activat AAA_24 DUF5906 CDC48_N AAA_19 AAA_6
Other DBs
NCBI-GeneID: 166378
NCBI-ProteinID: NP_660208
OMIM: 613940
HGNC: 18119
Ensembl: ENSG00000145375
UniProt: Q8NB90
LinkDB
Position
4:122923078..123319433
AA seq 893 aa
MSSKKNRKRLNQSAENGSSLPSAASSCAEARAPSAGSDFAATSGTLTVTNLLEKVDDKIP
KTFQNSLIHLGLNTMKSANICIGRPVLLTSLNGKQEVYTAWPMAGFPGGKVGLSEMAQKN
VGVRPGDAIQVQPLVGAVLQAEEMDVALSDKDMEINEEELTGCILRKLDGKIVLPGNFLY
CTFYGRPYKLQVLRVKGADGMILGGPQSDSDTDAQRMAFEQSSMETSSLELSLQLSQLDL
EDTQIPTSRSTPYKPIDDRITNKASDVLLDVTQSPGDGSGLMLEEVTGLKCNFESAREGN
EQLTEEERLLKFSIGAKCNTDTFYFISSTTRVNFTEIDKNSKEQDNQFKVTYDMIGGLSS
QLKAIREIIELPLKQPELFKSYGIPAPRGVLLYGPPGTGKTMIARAVANEVGAYVSVING
PEIISKFYGETEAKLRQIFAEATLRHPSIIFIDELDALCPKREGAQNEVEKRVVASLLTL
MDGIGSEVSEGQVLVLGATNRPHALDAALRRPGRFDKEIEIGVPNAQDRLDILQKLLRRV
PHLLTEAELLQLANSAHGYVGADLKVLCNEAGLCALRRILKKQPNLPDVKVAGLVKITLK
DFLQAMNDIRPSAMREIAIDVPNVSWSDIGGLESIKLKLEQAVEWPLKHPESFIRMGIQP
PKGVLLYGPPGCSKTMIAKALANESGLNFLAIKGPELMNKYVGESERAVRETFRKARAVA
PSIIFFDELDALAVERGSSLGAGNVADRVLAQLLTEMDGIEQLKDVTILAATNRPDRIDK
ALMRPGRIDRIIYVPLPDAATRREIFKLQFHSMPVSNEVDLDELILQTDAYSGAEIVAVC
REAALLALEEDIQANLIMKRHFTQALSTVTPRIPESLRRFYEDYQEKSGLHTL
NT seq 2682 nt   +upstreamnt  +downstreamnt
atgtcttccaagaagaatagaaagcggttgaaccaaagcgcggaaaatggttcgtccttg
ccctctgctgcttcctcttgtgcggaggcacgggctccttctgctggatcagacttcgcg
gcaacctccgggactctgacggtgaccaacttattagaaaaggtagatgacaaaattcct
aaaacattccagaattcccttattcatcttggactcaacactatgaagtctgcaaatata
tgtataggtcgaccagtgttgcttactagtttgaacggaaagcaagaggtgtatacagcc
tggcctatggcaggatttcctggaggcaaggtcggcctgagtgaaatggcacagaaaaat
gtgggtgtgaggcctggtgatgccatccaggtccagcctcttgtgggtgctgtgctacag
gctgaggaaatggatgtggcactgagtgacaaagatatggaaattaatgaagaagaactg
actggttgtatcctgagaaaactagatggcaagattgttttaccaggcaactttctgtat
tgtacattctatggacgaccgtacaagctgcaagtattgcgagtgaaaggggcagatggc
atgatattgggagggcctcagagtgactctgacactgatgcccaaagaatggcctttgaa
cagtccagcatggaaaccagtagcctggagttatccttacagctaagccagttagatctg
gaggatacccagatcccaacatcaagaagtactccttataaaccaattgatgacagaatt
acaaataaagccagtgatgttttgctggatgttacacagagccctggagatggcagtgga
cttatgctagaggaagtcacaggtcttaaatgtaattttgaatctgccagagaaggaaat
gagcaacttactgaagaagagagactgctaaagttcagcataggagcaaagtgcaatact
gatactttttattttatttcttcaacaacaagagtcaattttacagagattgataaaaat
tcaaaagagcaagacaaccaattcaaagtaacttatgacatgataggaggattaagtagc
cagctgaaagcaattagagaaataattgaattgcccctcaaacagcctgagcttttcaag
agttatggaattcctgcccctagaggagtgttactttatggtcctccaggtactggaaaa
acaatgatcgccagggctgttgctaatgaagttggagcctatgtttctgtaattaatggt
cctgaaattataagcaaattctatggtgagactgaagcaaagttacgtcagatatttgct
gaagccactctacgacacccatcaattatttttattgatgagctggatgcactttgtccg
aaaagagagggggcccagaatgaagtggaaaaaagagttgtggcttcactcttaacactg
atggatggcattggttcagaagtaagtgaaggacaagtgttggttcttggggccacaaat
cgccctcatgccttggatgctgctctccgaagacctgggcgatttgataaagagattgag
attggagttcccaatgctcaggaccggctagatattctccagaaactgcttcgaagggta
ccccatttgctcactgaggctgagctgctgcagctggcaaatagtgctcatggatacgtt
ggagcagacttgaaagtcttgtgtaatgaagcaggtctctgtgccttgcggagaatcctg
aaaaaacagcctaacctccctgatgtcaaggtggctggactggtgaagattactctgaag
gatttcttgcaggcaatgaatgatatcagacccagtgccatgagggaaatagcaattgat
gtcccaaatgtatcctggtcagatataggaggactggaaagtatcaaactgaagttggaa
caggctgtggaatggcccttaaaacatccagagtctttcattcgaatgggtattcagcca
cctaaaggagttcttctctatgggccacctgggtgctctaaaacaatgatagcaaaggct
ttggccaatgagagtggactgaattttctagctataaaggggcctgaattaatgaataaa
tatgttggtgaatctgaaagagcagttagagagaccttccgaaaagcaagagcagtggcg
ccttccattattttctttgatgaactggatgccttagcagttgaaaggggcagttcttta
ggtgctgggaatgtagccgatcgtgttttggctcagctcttaacagaaatggatgggatt
gaacagctaaaggatgtgaccattttggcagctactaaccgtccagataggatagacaag
gctttgatgcggcctggaagaattgatagaatcatctatgtgcctttaccggatgcagca
acaagaagggaaatatttaagctgcagtttcactccatgcctgtcagtaatgaagttgac
ctggatgaactcatccttcaaaccgacgcatactcaggagcagagattgtagctgtctgc
agagaggcagctcttctggctctggaagaagacattcaagccaatctcatcatgaaaaga
catttcactcaggccttgagcactgtgacacctagaattcctgagtcattgagacgtttt
tatgaagattatcaagagaagagtgggctgcatacactctga

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