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Details on Person UniProt:Q9NPL8 TIMMDC1

Class:IdReferenceGeneProduct:221629
_chainChangeLogchain:1-285 added on Fri February 6 2015
_displayNameUniProt:Q9NPL8 TIMMDC1
_timestamp2024-11-03 19:54:20
chainchain:1-285
checksum5AA6474C3ABCCFA2
commentFUNCTION Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.SUBUNIT Associates with the intermediate 315 kDa subcomplex of incompletely assembled complex I. Interacts with TMEM70 (PubMed:33753518).INTERACTION Generalized expression enhanced in heart and skeletal muscle.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the Tim17/Tim22/Tim23 family.
created[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
descriptionrecommendedName: fullName evidence="7"Complex I assembly factor TIMMDC1, mitochondrial alternativeName: Protein M5-14 alternativeName: Translocase of inner mitochondrial membrane domain-containing protein 1 shortName: TIMM domain containing-protein 1
geneNameTIMMDC1
C3orf1
UNQ247/PRO284
identifierQ9NPL8
isSequenceChangedFALSE
keywordChaperone
Membrane
Mitochondrion
Phosphoprotein
Primary mitochondrial disease
Proteomics identification
Reference proteome
Transmembrane
Transmembrane helix
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameTIMMDC1
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:9001491] ENSEMBL:ENSG00000113845 TIMMDC1 [Homo sapiens]
secondaryIdentifierTIDC1_HUMAN
D3DN81
Q6IAJ7
Q6UWU6
Q9NPR3
Q9NPS5
Q9P0Y6
sequenceLength285
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:5689720] TIMMDC1 [mitochondrial inner membrane] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q9NPL8 TIMMDC1 (221629)