KEGG   Homo sapiens (human): 79029
Entry
79029             CDS       T01001                                 
Symbol
AFG2B, DFNB119, NEDHLS, SPATA5L1
Name
(RefSeq) AFG2 AAA ATPase homolog B
  KO
K26051  ribosome biogenesis protein SPATA5L1 [EC:3.6.4.10]
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03009 Ribosome biogenesis [BR:hsa03009]
    79029 (AFG2B)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.4  Acting on acid anhydrides to facilitate cellular and subcellular movement
    3.6.4.10  non-chaperonin molecular chaperone ATPase
     79029 (AFG2B)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic type
  Pre-60S particles
   Export and cytoplasmic maturation factors
    79029 (AFG2B)
SSDB
Motif
Pfam: AAA AAA_lid_3 AAA_16 AAA_5 RuvB_N AAA_22 AAA_14 AAA_33 TIP49 NTPase_1 Rad17 AAA_18 bpMoxR AAA_28 AAA_3 AAA_2 TsaE Viral_helicase1 nSTAND3 NACHT AAA_7 RNA_helicase DUF815 Zeta_toxin IstB_IS21 AAA_17 AAA_11 AAA_25 Vps4_C AAA_19 AAA_30
Other DBs
NCBI-GeneID: 79029
NCBI-ProteinID: NP_076968
OMIM: 619578
HGNC: 28762
Ensembl: ENSG00000171763
UniProt: Q9BVQ7
Position
15:45402336..45421415
AA seq 753 aa
MAPDSDPFPEGPLLKLLPLDARDRGTQRCRLGPAALHALGARLGSAVKISLPDGGSCLCT
AWPRRDGADGFVQLDPLCASPGAAVGASRSRRSLSLNRLLLVPCPPLRRVAVWPVLRERA
GAPGARNTAAVLEAAQELLRNRPISLGHVVVAPPGAPGLVAALHIVGGTPSPDPAGLVTP
RTRVSLGGEPPSEAQPQPEVPLGGLSEAADSLRELLRLPLRYPRALTALGLAVPRGVLLA
GPPGVGKTQLVRAVAREAGAELLAVSAPALQGSRPGETEENVRRVFQRARELASRGPSLL
FLDEMDALCPQRGSRAPESRVVAQVLTLLDGASGDREVVVVGATNRPDALDPALRRPGRF
DREVVIGTPTLKQRKEILQVITSKMPISSHVDLGLLAEMTVGYVGADLTALCREAAMHAL
LHSEKNQDNPVIDEIDFLEAFKNIQPSSFRSVIGLMDIKPVDWEEIGGLEDVKLKLKQSI
EWPLKFPWEFVRMGLTQPKGVLLYGPPGCAKTTLVRALATSCHCSFVSVSGADLFSPFVG
DSEKVLSQIFRQARASTPAILFLDEIDSILGARSASKTGCDVQERVLSVLLNELDGVGLK
TIERRGSKSSQQEFQEVFNRSVMIIAATNRPDVLDTALLRPGRLDKIIYIPPPDHKGRLS
ILKVCTKTMPIGPDVSLENLAAETCFFSGADLRNLCTEAALLALQENGLDATTVKQEHFL
KSLKTVKPSLSCKDLALYENLFKKEGFSNVEGI
NT seq 2262 nt   +upstreamnt  +downstreamnt
atggctccggactcggatcccttccctgaagggccgctcttaaagctgctacccttagac
gctagagaccggggcacccagcgctgccgcctgggcccggccgccctccacgccctgggc
gcgcgcttgggctcggcagtgaagatctcgctacccgacggcggctcctgcctctgcact
gcctggcctcggcgggacggagcggacggctttgtgcagctggacccgctgtgcgcgagc
cccggggcggcggtcggggcgtcgagatcccggaggagtctcagcctgaatcgcctcctc
ctagtgccctgtccgcccctgcggcgcgtcgccgtgtggccggtgttgcgagagcgggca
ggcgcgcccggtgcccggaatacagccgcggtgctggaggcggcacaggagctgctgaga
aaccgaccgatctccctgggccacgtggtggtcgctccgccaggcgctcctggcctggtg
gctgccttgcacatcgtcggcgggacgcccagtcccgatcccgctgggctggtcacccct
cgtacccgcgtcagccttggcggggagcctccgtcggaagcccagccgcagcccgaggtg
cccctgggaggtctttcggaggcggccgactcgctgcgggagctcctccgcctcccgctc
cgctacccgcgcgccctgaccgcgctgggcttagcggtgcctcgcggggtgctcctggcg
gggccccccggagtgggcaagacccagctggtgcgggccgtggcgcgcgaggcgggcgcg
gagctgctggcagtcagcgccccggcgctgcagggttcccggcctggggagaccgaggag
aacgtgcggcgggtcttccagcgcgcccgggaactggccagccgcggacccagcctcctc
ttcctggacgagatggacgccttgtgtccccagcggggcagtcgagcacccgagagccgc
gtagtggcccaggtgttgacgctgctggacggcgccagtggggaccgcgaggtcgtggtt
gtgggagccactaaccggccggacgctctagacccagcgctgcgtaggcccgggagattt
gaccgagaggtggtcattgggactcccacacttaaacaaagaaaggaaattctgcaagtg
attacctcgaagatgcccatctccagtcatgttgatttgggccttcttgcagaaatgaca
gttggctatgttggtgccgacctgacagcactctgtagggaggctgccatgcatgccctc
cttcatagtgagaagaaccaggacaatcctgtgattgatgaaatagacttccttgaagct
tttaaaaatattcagccctcatcgtttcgaagcgtcattggattaatggatatcaagcct
gttgactgggaggagattggtggccttgaagatgtaaaactgaagttaaaacagagcatt
gagtggcctctgaaattcccttgggaatttgttagaatgggcctgacacaaccaaaggga
gttctcctctatgggccccctggatgtgctaaaaccactctggtgagggccctggccaca
agctgtcactgctctttcgtttcagtgagtggagctgatctgttttcaccgtttgttgga
gattcagaaaaagtgttgtctcagatatttcgacaagcaagagcaagcactccagcaatt
ttgtttttggatgaaattgattcaatcttgggagctcgctcagccagcaagacaggatgt
gatgttcaagaacgagttctttctgttctcctgaatgaattagatggtgttggacttaag
acaatagagagaagaggaagtaaatcaagtcaacaggagtttcaagaagtttttaaccga
agtgtcatgattattgcagcaacaaatagacctgatgtgttagatactgctttgttacga
cctggaagattagataagatcatctatatcccacctccagatcacaagggcaggctttct
attttaaaagtctgtacaaaaaccatgccaatagggcctgatgtctccttagaaaacctc
gcagcagaaacctgttttttttctggagctgatcttagaaacctctgcacagaagctgct
ttgctggctctgcaagaaaatggactagacgcaactacagtgaaacaagagcactttcta
aaatcacttaagactgtaaaaccgtcgttaagttgcaaggacttggctttatatgaaaac
ttatttaagaaagaaggattttctaacgtggaaggtatttaa

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Ontology (3)   
   KEGG BRITE (3)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (25)   
   RefSeq(nuc) (7)   
   GenBank (9)   
   EMBL (9)   
Protein domain (31)   
   Pfam (31)   
All databases (84)   

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