Homo sapiens (human): 166378
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
AAA
AAA_lid_3
RuvB_N
AAA_16
AAA_5
TIP49
AAA_22
AAA_28
Mg_chelatase
AAA_25
nSTAND3
AAA_33
AAA_2
RNA_helicase
Parvo_NS1
AAA_7
IstB_IS21
NPHP3_N
AAA_14
Rad17
AAA_3
AAA_18
ATPase
TsaE
bpMoxR
DUF815
Zeta_toxin
AAA_24
AAA_19
DUF5906
CDC48_N
AAA_6
Motif
Other DBs
NCBI-GeneID:
166378
NCBI-ProteinID:
NP_660208
OMIM:
613940
HGNC:
18119
Ensembl:
ENSG00000145375
UniProt:
Q8NB90
Structure
PDB
PDBj
LinkDB
All DBs
Position
4:122923078..123319433
Genome browser
AA seq
893 aa
AA seq
DB search
MSSKKNRKRLNQSAENGSSLPSAASSCAEARAPSAGSDFAATSGTLTVTNLLEKVDDKIP
KTFQNSLIHLGLNTMKSANICIGRPVLLTSLNGKQEVYTAWPMAGFPGGKVGLSEMAQKN
VGVRPGDAIQVQPLVGAVLQAEEMDVALSDKDMEINEEELTGCILRKLDGKIVLPGNFLY
CTFYGRPYKLQVLRVKGADGMILGGPQSDSDTDAQRMAFEQSSMETSSLELSLQLSQLDL
EDTQIPTSRSTPYKPIDDRITNKASDVLLDVTQSPGDGSGLMLEEVTGLKCNFESAREGN
EQLTEEERLLKFSIGAKCNTDTFYFISSTTRVNFTEIDKNSKEQDNQFKVTYDMIGGLSS
QLKAIREIIELPLKQPELFKSYGIPAPRGVLLYGPPGTGKTMIARAVANEVGAYVSVING
PEIISKFYGETEAKLRQIFAEATLRHPSIIFIDELDALCPKREGAQNEVEKRVVASLLTL
MDGIGSEVSEGQVLVLGATNRPHALDAALRRPGRFDKEIEIGVPNAQDRLDILQKLLRRV
PHLLTEAELLQLANSAHGYVGADLKVLCNEAGLCALRRILKKQPNLPDVKVAGLVKITLK
DFLQAMNDIRPSAMREIAIDVPNVSWSDIGGLESIKLKLEQAVEWPLKHPESFIRMGIQP
PKGVLLYGPPGCSKTMIAKALANESGLNFLAIKGPELMNKYVGESERAVRETFRKARAVA
PSIIFFDELDALAVERGSSLGAGNVADRVLAQLLTEMDGIEQLKDVTILAATNRPDRIDK
ALMRPGRIDRIIYVPLPDAATRREIFKLQFHSMPVSNEVDLDELILQTDAYSGAEIVAVC
REAALLALEEDIQANLIMKRHFTQALSTVTPRIPESLRRFYEDYQEKSGLHTL
NT seq
2682 nt
NT seq
+upstream
nt +downstream
nt
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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