AFG2B
entrez
79029
canonical
uniprot
Q9BVQ7
canonical
ensembl
ENSG00000171763
resolver
ensp
ENSP00000305494
resolver
ensp
ENSP00000436823
resolver
genesymbol
AFG2B
resolver
genesymbol_syn
SPATA5L1
resolver
hgnc
HGNC:28762
resolver
uniprot
C9JHR5
resolver
uniprot
Q9H8W7
resolver
uniprot
Q9HA41
resolver
uniprot_entry
AFG2B_HUMAN
resolver
uniprot_sec
C9JHR5
resolver
uniprot_sec
Q9H8W7
resolver
uniprot_sec
Q9HA41
resolver
activity_regulation
ACTIVITY REGULATION: In the context of 55LCC heterohexameric ATPase complex, the ATPase activity is stimulated by DNA binding and inhibited in presence of RNA. {ECO:0000269|PubMed:38554706}.
uniprot
proteins
amino_acid_sequence
MAPDSDPFPEGPLLKLLPLDARDRGTQRCRLGPAALHALGARLGSAVKISLPDGGSCLCTAWPRRDGADGFVQLDPLCASPGAAVGASRSRRSLSLNRLLLVPCPPLRRVAVWPVLRERAGAPGARNTAAVLEAAQELLRNRPISLGHVVVAPPGAPGLVAALHIVGGTPSPDPAGLVTPRTRVSLGGEPPSEAQPQPEVPLGGLSEAADSLRELLRLPLRYPRALTALGLAVPRGVLLAGPPGVGKTQLVRAVAREAGAELLAVSAPALQGSRPGETEENVRRVFQRARELASRGPSLLFLDEMDALCPQRGSRAPESRVVAQVLTLLDGASGDREVVVVGATNRPDALDPALRRPGRFDREVVIGTPTLKQRKEILQVITSKMPISSHVDLGLLAEMTVGYVGADLTALCREAAMHALLHSEKNQDNPVIDEIDFLEAFKNIQPSSFRSVIGLMDIKPVDWEEIGGLEDVKLKLKQSIEWPLKFPWEFVRMGLTQPKGVLLYGPPGCAKTTLVRALATSCHCSFVSVSGADLFSPFVGDSEKVLSQIFRQARASTPAILFLDEIDSILGARSASKTGCDVQERVLSVLLNELDGVGLKTIERRGSKSSQQEFQEVFNRSVMIIAATNRPDVLDTALLRPGRLDKIIYIPPPDHKGRLSILKVCTKTMPIGPDVSLENLAAETCFFSGADLRNLCTEAALLALQENGLDATTVKQEHFLKSLKTVKPSLSCKDLALYENLFKKEGFSNVEGI
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 119 (DFNB119) [MIM:619615]: A form of non-syndromic deafness characterized by mild to profound sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:34626583, ECO:0000269|PubMed:38554706}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616]: An autosomal recessive neurodevelopmental disorder characterized by hearing loss, global developmental delay, impaired intellectual development, hypotonia, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly. {ECO:0000269|PubMed:34626583, ECO:0000269|PubMed:38554706}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.10
uniprot
proteins
function
FUNCTION: ATP-dependent chaperone part of the 55LCC heterohexameric ATPase complex which is chromatin-associated and promotes replisome proteostasis to maintain replication fork progression and genome stability. Required for replication fork progression, sister chromatid cohesion, and chromosome stability. The ATPase activity is specifically enhanced by replication fork DNA and is coupled to cysteine protease-dependent cleavage of replisome substrates in response to replication fork damage. Uses ATPase activity to process replisome substrates in S-phase, facilitating their proteolytic turnover from chromatin to ensure DNA replication and mitotic fidelity (PubMed:38554706). Plays an essential role in the cytoplasmic maturation steps of pre-60S ribosomal particles by promoting the release of shuttling protein RSL24D1/RLP24 from the pre-ribosomal particles (PubMed:35354024). {ECO:0000269|PubMed:35354024, ECO:0000269|PubMed:38554706}.
uniprot
proteins
mass_dalton
80710
uniprot
proteins
protein_family
AAA ATPase family
uniprot
proteins
protein_family
AFG2 subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
18445686
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
34626583
uniprot
proteins
pubmed
35354024
uniprot
proteins
pubmed
38554706
uniprot
proteins
sequence_length
753
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18445686}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:18445686}. Nucleus {ECO:0000250|UniProtKB:D4A2B7}.
uniprot
proteins