TIMM50
entrez
92609
canonical
uniprot
Q3ZCQ8
canonical
ensembl
ENSG00000105197
resolver
ensp
ENSP00000475531
resolver
genesymbol
TIMM50
resolver
genesymbol_syn
TIM50
resolver
hgnc
HGNC:23656
resolver
uniprot
Q330K1
resolver
uniprot
Q6QA00
resolver
uniprot
Q96FJ5
resolver
uniprot
Q96GY2
resolver
uniprot
Q9H370
resolver
uniprot_entry
TIM50_HUMAN
resolver
uniprot_sec
Q330K1
resolver
uniprot_sec
Q6QA00
resolver
uniprot_sec
Q96FJ5
resolver
uniprot_sec
Q96GY2
resolver
uniprot_sec
Q9H370
resolver
amino_acid_sequence
MAASAAVFSRLRSGLRLGSRGLCTRLATPPRRAPDQAAEIGSRGSTKAQGPQQQPGSEGPSYAKKVALWLAGLLGAGGTVSVVYIFGNNPVDENGAKIPDEFDNDPILVQQLRRTYKYFKDYRQMIIEPTSPCLLPDPLQEPYYQPPYTLVLELTGVLLHPEWSLATGWRFKKRPGIETLFQQLAPLYEIVIFTSETGMTAFPLIDSVDPHGFISYRLFRDATRYMDGHHVKDISCLNRDPARVVVVDCKKEAFRLQPYNGVALRPWDGNSDDRVLLDLSAFLKTIALNGVEDVRTVLEHYALEDDPLAAFKQRQSRLEQEEQQRLAELSKSNKQNLFLGSLTSRLWPRSKQP
uniprot
proteins
disease_involvement
DISEASE: 3-methylglutaconic aciduria 9 (MGCA9) [MIM:617698]: An autosomal recessive disease characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria. {ECO:0000269|PubMed:27573165, ECO:0000269|PubMed:30190335, ECO:0000269|PubMed:31058414, ECO:0000269|PubMed:32369862, ECO:0000269|PubMed:38828998}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane (PubMed:30190335, PubMed:38828998). Has some phosphatase activity in vitro; however such activity may not be relevant in vivo. {ECO:0000269|PubMed:15044455, ECO:0000269|PubMed:30190335, ECO:0000269|PubMed:38828998}.; FUNCTION: [Isoform 2]: May participate in the release of snRNPs and SMN from the Cajal body. {ECO:0000269|PubMed:16008839}.
uniprot
proteins
mass_dalton
39646
uniprot
proteins
protein_family
TIM50 family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15044455
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16008839
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23263864
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27573165
uniprot
proteins
pubmed
30190335
uniprot
proteins
pubmed
31058414
uniprot
proteins
pubmed
32369862
uniprot
proteins
pubmed
38828998
uniprot
proteins
sequence_length
353
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:15044455}; Single-pass membrane protein {ECO:0000269|PubMed:15044455}.; SUBCELLULAR LOCATION: [Isoform 2]: Nucleus speckle {ECO:0000269|PubMed:16008839}. Note=Nuclear and enriched in speckles with snRNPs. {ECO:0000269|PubMed:16008839}.
uniprot
proteins
transmembrane_region
TRANSMEM 66..86; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins