ATAD3A
entrez
55210
canonical
uniprot
Q9NVI7
canonical
ensembl
ENSG00000197785
resolver
ensp
ENSP00000368030
resolver
ensp
ENSP00000368031
resolver
ensp
ENSP00000439290
resolver
ensp
ENSP00000670781
resolver
genesymbol
ATAD3A
resolver
hgnc
HGNC:25567
resolver
uniprot
B3KPB3
resolver
uniprot
D2K8Q1
resolver
uniprot
G3V1I6
resolver
uniprot
Q5SV23
resolver
uniprot
Q8N275
resolver
uniprot
Q96A50
resolver
uniprot_entry
ATD3A_HUMAN
resolver
uniprot_sec
B3KPB3
resolver
uniprot_sec
D2K8Q1
resolver
uniprot_sec
G3V1I6
resolver
uniprot_sec
Q5SV23
resolver
uniprot_sec
Q8N275
resolver
uniprot_sec
Q96A50
resolver
amino_acid_sequence
MSWLFGINKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAKAARELEHSRYAKDALNLAQMQEQTLQLEQQSKLKEYEAAVEQLKSEQIRAQAEERRKTLSEETRQHQARAQYQDKLARQRYEDQLKQQQLLNEENLRKQEESVQKQEAMRRATVEREMELRHKNEMLRVEAEARARAKAERENADIIREQIRLKAAEHRQTVLESIRTAGTLFGEGFRAFVTDWDKVTATVAGLTLLAVGVYSAKNATLVAGRFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDALEGVVLSPSLEARVRDIAIATRNTKKNRSLYRNILMYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWANTSRRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLVLASNQPEQFDWAINDRINEMVHFDLPGQEERERLVRMYFDKYVLKPATEGKQRLKLAQFDYGRKCSEVARLTEGMSGREIAQLAVSWQATAYASEDGVLTEAMMDTRVQDAVQQHQQKMCWLKAEGPGRGDEPSPS
uniprot
proteins
disease_involvement
DISEASE: Harel-Yoon syndrome (HAYOS) [MIM:617183]: A syndrome characterized by global developmental delay, hypotonia, intellectual disability, and axonal neuropathy. Some patients have optic atrophy and hypertrophic cardiomyopathy. HAYOS inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:27640307}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL) [MIM:618810]: An autosomal recessive multisystem disorder with onset in utero and death in the neonatal period. Affected infants show respiratory insufficiency and almost no spontaneous movement at birth. Additional features include corneal clouding, seizures, dysmorphic facies, contractures, and progressive pontocerebellar hypoplasia with simplified gyral pattern and white matter abnormalities. Some patients may have cardiac anomalies or cardiac hypertrophy. {ECO:0000269|PubMed:29053797, ECO:0000269|PubMed:31727539}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.1.-
uniprot
proteins
function
FUNCTION: Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level (PubMed:17210950, PubMed:20154147, PubMed:22453275, PubMed:31522117, PubMed:37832546, PubMed:39116259). May play an important role in mitochondrial protein synthesis (PubMed:22453275). May also participate in mitochondrial DNA replication (PubMed:17210950). May bind to mitochondrial DNA D-loops and contribute to nucleoid stability (PubMed:17210950). Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis (PubMed:22453275). Involved in mitochondrial-mediated antiviral innate immunity (PubMed:31522117). Required to protect mitochondria from the PERK-mediated unfolded protein response: specifically inhibits the activity of EIF2AK3/PERK at mitochondria-endoplasmic reticulum contact sites, thereby providing a safe haven for mitochondrial protein translation during endoplasmic reticulum stress (PubMed:39116259). Ability to inhibit EIF2AK3/PERK is independent of its ATPase activity (PubMed:39116259). Also involved in the mitochondrial DNA damage response by promoting signaling between damaged genomes and the mitochondrial membrane, leading to activation of the integrated stress response (ISR) (PubMed:37832546). {ECO:0000269|PubMed:17210950, ECO:0000269|PubMed:20154147, ECO:0000269|PubMed:22453275, ECO:0000269|PubMed:31522117, ECO:0000269|PubMed:37832546, ECO:0000269|PubMed:39116259}.
uniprot
proteins
mass_dalton
66218
uniprot
proteins
mutagenesis
MUTAGEN 293; /note="V->S: Loss of S100B-binding; when associated with S-297."; /evidence="ECO:0000269|PubMed:20351179"; MUTAGEN 297; /note="L->S: Loss of S100B-binding; when associated with S-293."; /evidence="ECO:0000269|PubMed:20351179"; MUTAGEN 301..302; /note="Missing: Decrease in S100B-binding."; /evidence="ECO:0000269|PubMed:20351179"; MUTAGEN 358; /note="K->E: No effect on homooligomerization. Immediate fragmentation of the mitochondrial network."; /evidence="ECO:0000269|PubMed:20154147"; MUTAGEN 411; /note="D->Q: No effect on homooligomerization. Immediate fragmentation of the mitochondrial network."; /evidence="ECO:0000269|PubMed:20154147"; MUTAGEN 412; /note="E->Q: Abolished ATPase activity without affecting its ability to interact with and inhibit EIF2AK3/PERK."; /evidence="ECO:0000269|PubMed:39116259
uniprot
proteins
protein_family
AAA ATPase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17210950
uniprot
proteins
pubmed
18063578
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20154147
uniprot
proteins
pubmed
20332122
uniprot
proteins
pubmed
20349121
uniprot
proteins
pubmed
20351179
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22453275
uniprot
proteins
pubmed
22664726
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27640307
uniprot
proteins
pubmed
29053797
uniprot
proteins
pubmed
31522117
uniprot
proteins
pubmed
31727539
uniprot
proteins
pubmed
37832546
uniprot
proteins
pubmed
39116259
uniprot
proteins
sequence_length
586
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:18063578, ECO:0000269|PubMed:20154147, ECO:0000269|PubMed:20332122, ECO:0000269|PubMed:20349121}; Single-pass membrane protein {ECO:0000269|PubMed:20154147, ECO:0000269|PubMed:20349121}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:17210950, ECO:0000269|PubMed:18063578}. Note=In the mitochondrial inner membrane, enriched in sites with the potential to form contacts with the outer membrane (PubMed:20154147, PubMed:20349121). The N-terminal domain interacts with the inner surface of the mitochondrial outer membrane and the C-terminal domain localizes in a specific matrix compartment, where it is associated with nucleoids (PubMed:18063578). Also present at mitochondria-endoplasmic reticulum contact sites; where it interacts with EIF2AK3/PERK (PubMed:39116259). {ECO:0000269|PubMed:18063578, ECO:0000269|PubMed:20154147, ECO:0000269|PubMed:20349121, ECO:0000269|PubMed:39116259}.
uniprot
proteins
transmembrane_region
TRANSMEM 247..264; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins