AFG2A
entrez
166378
canonical
uniprot
Q8NB90
canonical
ensembl
ENSG00000145375
resolver
ensp
ENSP00000274008
resolver
ensp
ENSP00000502453
resolver
ensp
ENSP00000576004
resolver
ensp
ENSP00000783764
resolver
ensp
ENSP00000787580
resolver
ensp
ENSP00000794631
resolver
enst
ENST00000675612
resolver
genesymbol
AFG2A
resolver
genesymbol_syn
SPAF
resolver
genesymbol_syn
SPATA5
resolver
hgnc
HGNC:18119
resolver
uniprot
A0A6Q8PGU6
resolver
uniprot
C9JT97
resolver
uniprot
Q86XW1
resolver
uniprot
Q8NI20
resolver
uniprot
Q8TDL7
resolver
uniprot_entry
A0A6Q8PGU6_HUMAN
resolver
uniprot_entry
AFG2A_HUMAN
resolver
uniprot_sec
C9JT97
resolver
uniprot_sec
Q86XW1
resolver
uniprot_sec
Q8NI20
resolver
uniprot_sec
Q8TDL7
resolver
activity_regulation
ACTIVITY REGULATION: AFG2A alone display limited ATPase activity and is not regulated by RNA or DNA binding. In the context of 55LCC heterohexameric ATPase complex, the ATPase activity increases and is stimulated by DNA binding and inhibited in presence of RNA. {ECO:0000269|PubMed:38554706}.
uniprot
proteins
amino_acid_sequence
MSSKKNRKRLNQSAENGSSLPSAASSCAEARAPSAGSDFAATSGTLTVTNLLEKVDDKIPKTFQNSLIHLGLNTMKSANICIGRPVLLTSLNGKQEVYTAWPMAGFPGGKVGLSEMAQKNVGVRPGDAIQVQPLVGAVLQAEEMDVALSDKDMEINEEELTGCILRKLDGKIVLPGNFLYCTFYGRPYKLQVLRVKGADGMILGGPQSDSDTDAQRMAFEQSSMETSSLELSLQLSQLDLEDTQIPTSRSTPYKPIDDRITNKASDVLLDVTQSPGDGSGLMLEEVTGLKCNFESAREGNEQLTEEERLLKFSIGAKCNTDTFYFISSTTRVNFTEIDKNSKEQDNQFKVTYDMIGGLSSQLKAIREIIELPLKQPELFKSYGIPAPRGVLLYGPPGTGKTMIARAVANEVGAYVSVINGPEIISKFYGETEAKLRQIFAEATLRHPSIIFIDELDALCPKREGAQNEVEKRVVASLLTLMDGIGSEVSEGQVLVLGATNRPHALDAALRRPGRFDKEIEIGVPNAQDRLDILQKLLRRVPHLLTEAELLQLANSAHGYVGADLKVLCNEAGLCALRRILKKQPNLPDVKVAGLVKITLKDFLQAMNDIRPSAMREIAIDVPNVSWSDIGGLESIKLKLEQAVEWPLKHPESFIRMGIQPPKGVLLYGPPGCSKTMIAKALANESGLNFLAIKGPELMNKYVGESERAVRETFRKARAVAPSIIFFDELDALAVERGSSLGAGNVADRVLAQLLTEMDGIEQLKDVTILAATNRPDRIDKALMRPGRIDRIIYVPLPDAATRREIFKLQFHSMPVSNEVDLDELILQTDAYSGAEIVAVCREAALLALEEDIQANLIMKRHFTQALSTVTPRIPESLRRFYEDYQEKSGLHTL
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) [MIM:616577]: An autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. {ECO:0000269|PubMed:26299366, ECO:0000269|PubMed:27246907, ECO:0000269|PubMed:28293831, ECO:0000269|PubMed:34360601, ECO:0000269|PubMed:35354024, 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, PubMed:38554706). May be involved in morphological and functional mitochondrial transformations during spermatogenesis (By similarity). {ECO:0000250|UniProtKB:Q3UMC0, ECO:0000269|PubMed:35354024, ECO:0000269|PubMed:38554706}.
uniprot
proteins
mass_dalton
97904
uniprot
proteins
mutagenesis
MUTAGEN 185; /note="G->E: No effect on protein stability. No effect on interaction with AFG2B."; /evidence="ECO:0000269|PubMed:38554706"; MUTAGEN 323; /note="F->I: Reduces protein stability."; /evidence="ECO:0000269|PubMed:38554706
uniprot
proteins
protein_family
AAA ATPase family
uniprot
proteins
protein_family
AFG2 subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18445686
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26299366
uniprot
proteins
pubmed
27246907
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28293831
uniprot
proteins
pubmed
34360601
uniprot
proteins
pubmed
35354024
uniprot
proteins
pubmed
38554706
uniprot
proteins
sequence_length
893
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18445686}. Mitochondrion {ECO:0000250|UniProtKB:Q3UMC0}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:18445686}.
uniprot
proteins