ATAD1
entrez
84896
canonical
uniprot
Q8NBU5
canonical
ensembl
ENSG00000138138
resolver
ensp
ENSP00000339017
resolver
ensp
ENSP00000505593
resolver
ensp
ENSP00000505894
resolver
ensp
ENSP00000506333
resolver
ensp
ENSP00000522149
resolver
ensp
ENSP00000522155
resolver
ensp
ENSP00000610813
resolver
ensp
ENSP00000668845
resolver
ensp
ENSP00000668846
resolver
ensp
ENSP00000760822
resolver
ensp
ENSP00000760845
resolver
ensp
ENSP00000760848
resolver
ensp
ENSP00000760850
resolver
enst
ENST00000680388
resolver
enst
ENST00000681602
resolver
genesymbol
ATAD1
resolver
hgnc
HGNC:25903
resolver
uniprot
A0A7P0T9B4
resolver
uniprot
A0A7P0T9U2
resolver
uniprot
D3DR26
resolver
uniprot
Q6DKG1
resolver
uniprot
Q6P4B9
resolver
uniprot
Q8N3G1
resolver
uniprot
Q8WYR9
resolver
uniprot
Q969Y3
resolver
uniprot_entry
A0A7P0T9B4_HUMAN
resolver
uniprot_entry
A0A7P0T9U2_HUMAN
resolver
uniprot_entry
ATAD1_HUMAN
resolver
uniprot_sec
D3DR26
resolver
uniprot_sec
Q6DKG1
resolver
uniprot_sec
Q6P4B9
resolver
uniprot_sec
Q8N3G1
resolver
uniprot_sec
Q8WYR9
resolver
uniprot_sec
Q969Y3
resolver
amino_acid_sequence
MVHAEAFSRPLSRNEVVGLIFRLTIFGAVTYFTIKWMVDAIDPTRKQKVEAQKQAEKLMKQIGVKNVKLSEYEMSIAAHLVDPLNMHVTWSDIAGLDDVITDLKDTVILPIKKKHLFENSRLLQPPKGVLLYGPPGCGKTLIAKATAKEAGCRFINLQPSTLTDKWYGESQKLAAAVFSLAIKLQPSIIFIDEIDSFLRNRSSSDHEATAMMKAQFMSLWDGLDTDHSCQVIVMGATNRPQDLDSAIMRRMPTRFHINQPALKQREAILKLILKNENVDRHVDLLEVAQETDGFSGSDLKEMCRDAALLCVREYVNSTSEESHDEDEIRPVQQQDLHRAIEKMKKSKDAAFQNVLTHVCLD
uniprot
proteins
disease_involvement
DISEASE: Hyperekplexia 4 (HKPX4) [MIM:618011]: An autosomal recessive severe neurologic disorder apparent from birth. HKPX4 is characterized by little if any development, hypertonia, early-onset refractory seizures in some patients, and respiratory failure resulting in early death, mostly in the first months of life. {ECO:0000269|PubMed:28180185, ECO:0000269|PubMed:29390050, ECO:0000269|PubMed:29659736}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.4.2.-
uniprot
proteins
function
FUNCTION: Outer mitochondrial translocase required to remove mislocalized tail-anchored transmembrane proteins on mitochondria (PubMed:24843043). Specifically recognizes and binds tail-anchored transmembrane proteins: acts as a dislocase that mediates the ATP-dependent extraction of mistargeted tail-anchored transmembrane proteins from the mitochondrion outer membrane (By similarity). Also plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory (By similarity). Required for NMDA-stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity). {ECO:0000250|UniProtKB:P28737, ECO:0000250|UniProtKB:Q9D5T0, ECO:0000269|PubMed:24843043}.
uniprot
proteins
mass_dalton
40744
uniprot
proteins
protein_family
AAA ATPase family
uniprot
proteins
protein_family
MSP1 subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24843043
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28180185
uniprot
proteins
pubmed
29390050
uniprot
proteins
pubmed
29659736
uniprot
proteins
sequence_length
361
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:24843043}; Single-pass membrane protein {ECO:0000255}. Peroxisome membrane {ECO:0000269|PubMed:24843043}; Single-pass membrane protein {ECO:0000255}. Postsynaptic cell membrane {ECO:0000250|UniProtKB:Q9D5T0}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 16..32; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins