Q8IUX1 · T126B_HUMAN
- ProteinComplex I assembly factor TMEM126B, mitochondrial
- GeneTMEM126B
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids230 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
As part of the MCIA complex, involved in the assembly of the mitochondrial complex I (PubMed:27374773, PubMed:27374774, PubMed:32320651).
Participates in constructing the membrane arm of complex I (PubMed:24191001).
Participates in constructing the membrane arm of complex I (PubMed:24191001).
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 | |
Biological Process | mitochondrial respiratory chain complex I assembly | |
Biological Process | response to food |
Keywords
- Molecular function
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameComplex I assembly factor TMEM126B, 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 accessionQ8IUX1
- 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 | 72-92 | Helical | ||||
Sequence: IYQMATFGTTAGFSGIFSNFL | ||||||
Transmembrane | 110-130 | Helical | ||||
Sequence: LATLPFLSTVVTDKLFVIDAL | ||||||
Transmembrane | 141-161 | Helical | ||||
Sequence: VFRSSLIGIVCGVFYPSSLAF | ||||||
Transmembrane | 199-219 | Helical | ||||
Sequence: IPLVFQIMFGILNGLYHYAVF |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 29 (MC1DN29)
- 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. MC1DN29 transmission pattern is consistent with autosomal recessive inheritance.
- See alsoMIM:618250
Natural variants in MC1DN29
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_081464 | 70-230 | missing | in MC1DN29; loss of function in complex I assembly | |
VAR_081465 | 212 | G>V | in MC1DN29; decreased function in complex I assembly; dbSNP:rs141542003 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_081464 | 70-230 | in MC1DN29; loss of function in complex I assembly | |||
Sequence: Missing | ||||||
Natural variant | VAR_031188 | 198 | in dbSNP:rs17850847 | |||
Sequence: A → V | ||||||
Natural variant | VAR_081465 | 212 | in MC1DN29; decreased function in complex I assembly; dbSNP:rs141542003 | |||
Sequence: G → V |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 292 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 initiator methionine, chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Initiator methionine | 1 | Removed | ||||
Sequence: M | ||||||
Chain | PRO_0000280716 | 2-230 | Complex I assembly factor TMEM126B, mitochondrial | |||
Sequence: VVFGYEAGTKPRDSGVVPVGTEEAPKVFKMAASMHGQPSPSLEDAKLRRPMVIEIIEKNFDYLRKEMTQNIYQMATFGTTAGFSGIFSNFLFRRCFKVKHDALKTYASLATLPFLSTVVTDKLFVIDALYSDNISKENCVFRSSLIGIVCGVFYPSSLAFTKNGRLATKYHTVPLPPKGRVLIHWMTLCQTQMKLMAIPLVFQIMFGILNGLYHYAVFEETLEKTIHEE | ||||||
Modified residue | 34 | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Part of the mitochondrial complex I assembly/MCIA complex that comprises at least the core subunits TMEM126B, NDUFAF1, ECSIT and ACAD9 and complement subunits such as COA1 and TMEM186 (PubMed:32320651).
Associates with the intermediate 370 kDa subcomplex of incompletely assembled complex I (PubMed:24191001).
Interacts with TMEM70 (PubMed:33753518).
Associates with the intermediate 370 kDa subcomplex of incompletely assembled complex I (PubMed:24191001).
Interacts with TMEM70 (PubMed:33753518).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q8IUX1 | MRFAP1L1 Q96HT8 | 3 | EBI-2800657, EBI-748896 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence & Isoforms
- Sequence statusComplete
This entry describes 5 isoforms produced by Alternative splicing.
Q8IUX1-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length230
- Mass (Da)25,943
- Last updated2007-03-20 v2
- ChecksumB0EB374211C3CF52
Q8IUX1-2
- Name2
Q8IUX1-3
- Name3
Q8IUX1-4
- Name4
- Differences from canonical
- 171-230: Missing
Q8IUX1-5
- Name5
- Differences from canonical
- 1-30: Missing
Computationally mapped potential isoform sequences
There are 5 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_023871 | 1-18 | in isoform 2 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_023870 | 1-30 | in isoform 3 and isoform 5 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_023872 | 19 | in isoform 2 | |||
Sequence: P → MWIQVWMT | ||||||
Alternative sequence | VSP_023873 | 133-140 | in isoform 3 | |||
Sequence: DNISKENC → GEFKFTNV | ||||||
Alternative sequence | VSP_023874 | 141-230 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_023875 | 171-230 | in isoform 4 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF220193 EMBL· GenBank· DDBJ | AAF67658.1 EMBL· GenBank· DDBJ | mRNA | ||
CR612738 EMBL· GenBank· DDBJ | - | mRNA | No translation available. | |
AK291150 EMBL· GenBank· DDBJ | BAF83839.1 EMBL· GenBank· DDBJ | mRNA | ||
AP000642 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471076 EMBL· GenBank· DDBJ | EAW75098.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC012065 EMBL· GenBank· DDBJ | AAH12065.1 EMBL· GenBank· DDBJ | mRNA | ||
BC017574 EMBL· GenBank· DDBJ | AAH17574.1 EMBL· GenBank· DDBJ | mRNA | ||
BC038933 EMBL· GenBank· DDBJ | AAH38933.1 EMBL· GenBank· DDBJ | mRNA | ||
BC107900 EMBL· GenBank· DDBJ | AAI07901.1 EMBL· GenBank· DDBJ | mRNA | Frameshift |