TIMMDC1
entrez
51300
canonical
uniprot
Q9NPL8
canonical
ensembl
ENSG00000113845
resolver
ensp
ENSP00000418803
resolver
ensp
ENSP00000419510
resolver
enst
ENST00000493694
resolver
enst
ENST00000494664
resolver
genesymbol
TIMMDC1
resolver
genesymbol_syn
C3orf1
resolver
hgnc
HGNC:1321
resolver
uniprot
C9JU35
resolver
uniprot
D3DN81
resolver
uniprot
Q6IAJ7
resolver
uniprot
Q6UWU6
resolver
uniprot
Q9NPR3
resolver
uniprot
Q9NPS5
resolver
uniprot
Q9P0Y6
resolver
uniprot_entry
C9JU35_HUMAN
resolver
uniprot_entry
TIDC1_HUMAN
resolver
uniprot_sec
D3DN81
resolver
uniprot_sec
Q6IAJ7
resolver
uniprot_sec
Q6UWU6
resolver
uniprot_sec
Q9NPR3
resolver
uniprot_sec
Q9NPS5
resolver
uniprot_sec
Q9P0Y6
resolver
amino_acid_sequence
MEVPPPAPRSFLCRALCLFPRVFAAEAVTADSEVLEERQKRLPYVPEPYYPESGWDRLRELFGKDEQQRISKDLANICKTAATAGIIGWVYGGIPAFIHAKQQYIEQSQAEIYHNRFDAVQSAHRAATRGFIRYGWRWGWRTAVFVTIFNTVNTSLNVYRNKDALSHFVIAGAVTGSLFRINVGLRGLVAGGIIGALLGTPVGGLLMAFQKYSGETVQERKQKDRKALHELKLEEWKGRLQVTEHLPEKIESSLQEDEPENDAKKIEALLNLPRNPSVIDKQDKD
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 31 (MC1DN31) [MIM:618251]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN31 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:28604674}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I. {ECO:0000269|PubMed:24191001}.
uniprot
proteins
mass_dalton
32178
uniprot
proteins
protein_family
Tim17/Tim22/Tim23 family
uniprot
proteins
pubmed
11092749
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24191001
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28604674
uniprot
proteins
pubmed
33753518
uniprot
proteins
sequence_length
285
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:24191001}; Multi-pass membrane protein {ECO:0000269|PubMed:24191001}.
uniprot
proteins
transmembrane_region
TRANSMEM 80..100; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 137..159; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 165..185; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 189..209; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins