Homo sapiens (human): 79029 Help 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) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  AAA AAA_lid_3 AAA_16 AAA_5 RuvB_N AAA_22 AAA_33 AAA_14 TIP49 NTPase_1 Rad17 AAA_28 bpMoxR AAA_3 TsaE AAA_2 Viral_helicase1 nSTAND3 AAA_18 NACHT AAA_7 RNA_helicase DUF815 AAA_lid_PRS2_C IstB_IS21 AAA_11 Vps4_C AAA_19 AAA_25 Zeta_toxin AAA_30 Motif Other DBs NCBI-GeneID:  79029 NCBI-ProteinID:  NP_076968 OMIM:  619578 HGNC:  28762 Ensembl:  ENSG00000171763 UniProt:  Q9BVQ7 Structure PDBPDBj LinkDB All DBs Position 15:45402336..45421415 Genome browser AA seq 753 aa AA seqDB search MAPDSDPFPEGPLLKLLPLDARDRGTQRCRLGPAALHALGARLGSAVKISLPDGGSCLCT AWPRRDGADGFVQLDPLCASPGAAVGASRSRRSLSLNRLLLVPCPPLRRVAVWPVLRERA GAPGARNTAAVLEAAQELLRNRPISLGHVVVAPPGAPGLVAALHIVGGTPSPDPAGLVTP RTRVSLGGEPPSEAQPQPEVPLGGLSEAADSLRELLRLPLRYPRALTALGLAVPRGVLLA GPPGVGKTQLVRAVAREAGAELLAVSAPALQGSRPGETEENVRRVFQRARELASRGPSLL FLDEMDALCPQRGSRAPESRVVAQVLTLLDGASGDREVVVVGATNRPDALDPALRRPGRF DREVVIGTPTLKQRKEILQVITSKMPISSHVDLGLLAEMTVGYVGADLTALCREAAMHAL LHSEKNQDNPVIDEIDFLEAFKNIQPSSFRSVIGLMDIKPVDWEEIGGLEDVKLKLKQSI EWPLKFPWEFVRMGLTQPKGVLLYGPPGCAKTTLVRALATSCHCSFVSVSGADLFSPFVG DSEKVLSQIFRQARASTPAILFLDEIDSILGARSASKTGCDVQERVLSVLLNELDGVGLK TIERRGSKSSQQEFQEVFNRSVMIIAATNRPDVLDTALLRPGRLDKIIYIPPPDHKGRLS ILKVCTKTMPIGPDVSLENLAAETCFFSGADLRNLCTEAALLALQENGLDATTVKQEHFL KSLKTVKPSLSCKDLALYENLFKKEGFSNVEGI NT seq 2262 nt NT seq  +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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