Q9NPL8 · TIDC1_HUMAN
- ProteinComplex I assembly factor TIMMDC1, mitochondrial
- GeneTIMMDC1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids285 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial inner membrane | |
Cellular Component | mitochondrion | |
Cellular Component | nucleoplasm |
Keywords
- Molecular function
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameComplex I assembly factor TIMMDC1, mitochondrial
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9NPL8
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Mitochondrion membrane ; Multi-pass membrane protein
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 80-100 | Helical | ||||
Sequence: TAATAGIIGWVYGGIPAFIHA | ||||||
Transmembrane | 137-159 | Helical | ||||
Sequence: RWGWRTAVFVTIFNTVNTSLNVY | ||||||
Transmembrane | 165-185 | Helical | ||||
Sequence: LSHFVIAGAVTGSLFRINVGL | ||||||
Transmembrane | 189-209 | Helical | ||||
Sequence: VAGGIIGALLGTPVGGLLMAF |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 31 (MC1DN31)
- Note
- DescriptionA 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.
- See alsoMIM:618251
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_027885 | 76 | in dbSNP:rs11539377 | |||
Sequence: N → D | ||||||
Natural variant | VAR_061572 | 217 | in dbSNP:rs57168946 | |||
Sequence: V → I |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 345 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data), modified residue.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000252478 | 1-285 | UniProt | Complex I assembly factor TIMMDC1, mitochondrial | |||
Sequence: MEVPPPAPRSFLCRALCLFPRVFAAEAVTADSEVLEERQKRLPYVPEPYYPESGWDRLRELFGKDEQQRISKDLANICKTAATAGIIGWVYGGIPAFIHAKQQYIEQSQAEIYHNRFDAVQSAHRAATRGFIRYGWRWGWRTAVFVTIFNTVNTSLNVYRNKDALSHFVIAGAVTGSLFRINVGLRGLVAGGIIGALLGTPVGGLLMAFQKYSGETVQERKQKDRKALHELKLEEWKGRLQVTEHLPEKIESSLQEDEPENDAKKIEALLNLPRNPSVIDKQDKD | |||||||
Modified residue (large scale data) | 108 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 113 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue (large scale data) | 252 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 253 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 277 | UniProt | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Generalized expression enhanced in heart and skeletal muscle.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Associates with the intermediate 315 kDa subcomplex of incompletely assembled complex I. Interacts with TMEM70 (PubMed:33753518).
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Sequence
- Sequence statusComplete
- Length285
- Mass (Da)32,178
- Last updated2006-10-17 v2
- Checksum5AA6474C3ABCCFA2
Computationally mapped potential isoform sequences
There are 7 potential isoforms mapped to this entry
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 156 | in Ref. 5; CAG33439 | ||||
Sequence: L → P | ||||||
Sequence conflict | 213 | in Ref. 4; AAQ88996 | ||||
Sequence: S → A | ||||||
Sequence conflict | 255 | in Ref. 4; AAQ88996 | ||||
Sequence: Q → R |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF210057 EMBL· GenBank· DDBJ | AAG43510.1 EMBL· GenBank· DDBJ | mRNA | ||
AL390077 EMBL· GenBank· DDBJ | CAB98201.1 EMBL· GenBank· DDBJ | mRNA | ||
AL390090 EMBL· GenBank· DDBJ | CAB98212.1 EMBL· GenBank· DDBJ | mRNA | ||
AL390094 EMBL· GenBank· DDBJ | CAB98251.1 EMBL· GenBank· DDBJ | mRNA | ||
AF139077 EMBL· GenBank· DDBJ | AAF62372.1 EMBL· GenBank· DDBJ | mRNA | ||
AL136622 EMBL· GenBank· DDBJ | CAB66557.1 EMBL· GenBank· DDBJ | mRNA | ||
AY358633 EMBL· GenBank· DDBJ | AAQ88996.1 EMBL· GenBank· DDBJ | mRNA | ||
CR457158 EMBL· GenBank· DDBJ | CAG33439.1 EMBL· GenBank· DDBJ | mRNA | ||
CR533524 EMBL· GenBank· DDBJ | CAG38555.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471052 EMBL· GenBank· DDBJ | EAW79566.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471052 EMBL· GenBank· DDBJ | EAW79568.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC012341 EMBL· GenBank· DDBJ | AAH12341.1 EMBL· GenBank· DDBJ | mRNA |