LETM1
entrez
3954
canonical
uniprot
O95202
canonical
ensembl
ENSG00000168924
resolver
ensp
ENSP00000305653
resolver
ensp
ENSP00000542505
resolver
genesymbol
LETM1
resolver
hgnc
HGNC:6556
resolver
uniprot
B4DED2
resolver
uniprot
Q9UF65
resolver
uniprot_entry
LETM1_HUMAN
resolver
uniprot_sec
B4DED2
resolver
uniprot_sec
Q9UF65
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by ruthenium red or its derivative Ru360. {ECO:0000269|PubMed:19797662, ECO:0000269|PubMed:24344246}.
uniprot
proteins
amino_acid_sequence
MASILLRSCRGRAPARLPPPPRYTVPRGSPGDPAHLSCASTLGLRNCLNVPFGCCTPIHPVYTSSRGDHLGCWALRPECLRIVSRAPWTSTSVGFVAVGPQCLPVRGWHSSRPVRDDSVVEKSLKSLKDKNKKLEEGGPVYSPPAEVVVKKSLGQRVLDELKHYYHGFRLLWIDTKIAARMLWRILNGHSLTRRERRQFLRICADLFRLVPFLVFVVVPFMEFLLPVAVKLFPNMLPSTFETQSLKEERLKKELRVKLELAKFLQDTIEEMALKNKAAKGSATKDFSVFFQKIRETGERPSNEEIMRFSKLFEDELTLDNLTRPQLVALCKLLELQSIGTNNFLRFQLTMRLRSIKADDKLIAEEGVDSLNVKELQAACRARGMRALGVTEDRLRGQLKQWLDLHLHQEIPTSLLILSRAMYLPDTLSPADQLKSTLQTLPEIVAKEAQVKVAEVEGEQVDNKAKLEATLQEEAAIQQEHREKELQKRSEVAKDFEPERVVAAPQRPGTEPQPEMPDTVLQSETLKDTAPVLEGLKEEEITKEEIDILSDACSKLQEQKKSLTKEKEELELLKEDVQDYSEDLQEIKKELSKTGEEKYVEESKASKRLTKRVQQMIGQIDGLISQLEMDQQAGKLAPANGMPTGENVISVAELINAMKQVKHIPESKLTSLAAALDENKDGKVNIDDLVKVIELVDKEDVHISTSQVAEIVATLEKEEKVEEKEKAKEKAEKEVAEVKS
uniprot
proteins
disease_involvement
DISEASE: Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (CONDMIM) [MIM:620089]: An autosomal recessive disorder characterized primarily by global developmental delay and variably impaired intellectual development with speech delay apparent from infancy. Affected individuals have hypotonia, poor feeding, poor overall growth, and respiratory distress early in life. Other features include visual impairment due to optic atrophy, sensorineural hearing loss, and neuromuscular abnormalities. Features suggestive of a mitochondrial disorder include cataracts, cardiomyopathy, diabetes mellitus, combined oxidative phosphorylation deficiency, and increased lactate. Some patients develop seizures, some have dysmorphic facial features, and some have non-specific abnormalities on brain imaging. Death in childhood may occur. {ECO:0000269|PubMed:36055214}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays an important role in maintenance of mitochondrial morphology and in mediating either calcium or potassium/proton antiport (PubMed:18628306, PubMed:19797662, PubMed:24344246, PubMed:24898248, PubMed:29123128, PubMed:32139798, PubMed:36055214, PubMed:36321428). Mediates proton-dependent calcium efflux from mitochondrion (PubMed:19797662, PubMed:24344246, PubMed:29123128). Also functions as an electroneutral mitochondrial proton/potassium exchanger (PubMed:24898248, PubMed:36055214, PubMed:36321428). Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain (PubMed:18628306, PubMed:36055214). Required for the maintenance of the tubular shape and cristae organization (PubMed:18628306, PubMed:32139798). {ECO:0000269|PubMed:18628306, ECO:0000269|PubMed:19797662, ECO:0000269|PubMed:24344246, ECO:0000269|PubMed:24898248, ECO:0000269|PubMed:29123128, ECO:0000269|PubMed:32139798, ECO:0000269|PubMed:36055214, ECO:0000269|PubMed:36321428}.
uniprot
proteins
mass_dalton
83354
uniprot
proteins
mutagenesis
MUTAGEN 192; /note="T->A: Loss of phosphorylation by PINK1."; /evidence="ECO:0000269|PubMed:29123128"; MUTAGEN 192; /note="T->E: Phosphomimetic mutant. Increased rate of calcium export from mitochondria."; /evidence="ECO:0000269|PubMed:29123128"; MUTAGEN 359; /note="D->A: Loss of ability to complement morphologic defects of mitochondria in letm1-deficient yeast mutant. Slightly supports growth of letm1-deficient yeast mutant on minimal essential medium."; /evidence="ECO:0000269|PubMed:32139798"; MUTAGEN 382; /note="R->A: Loss of ability to complement growth defects and morphologic defects of mitochondria in letm1-deficient yeast mutant; when associated with A-383 and A-384."; /evidence="ECO:0000269|PubMed:32139798"; MUTAGEN 383; /note="G->A: Loss of ability to complement growth defects and morphologic defects of mitochondria in letm1-deficient yeast mutant; when associated with A-382 and A-384."; /evidence="ECO:0000269|PubMed:32139798"; MUTAGEN 384; /note="M->A: Loss of ability to complement growth defects and morphologic defects of mitochondria in letm1-deficient yeast mutant; when associated with A-382 and A-383."; /evidence="ECO:0000269|PubMed:32139798
uniprot
proteins
post_translational_modification
PTM: PINK1-mediated phosphorylation at Thr-192, positively regulates its mitochondrial calcium transport activity. {ECO:0000269|PubMed:29123128}.
uniprot
proteins
protein_family
LETM1 family
uniprot
proteins
pubmed
10486213
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14706454
uniprot
proteins
pubmed
15138253
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18628306
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19797662
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24344246
uniprot
proteins
pubmed
24898248
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29123128
uniprot
proteins
pubmed
32139798
uniprot
proteins
pubmed
36055214
uniprot
proteins
pubmed
36321428
uniprot
proteins
sequence_length
739
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:14706454, ECO:0000269|PubMed:15138253, ECO:0000269|PubMed:18628306, ECO:0000269|PubMed:19797662, ECO:0000269|PubMed:32139798}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 209..229; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins