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Tbio
TMEM126B
Complex I assembly factor TMEM126B, mitochondrial

Protein Summary
Description
Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I. This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts with NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 13. Naturally occurring mutations in this gene are associated with isolated complex I deficiency. A pseudogene of this gene has been defined on chromosome 9. [provided by RefSeq, Apr 2017]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000358867
  • ENSP00000351737
  • ENSG00000171204
  • ENST00000393375
  • ENSP00000377039
  • ENST00000534341
  • ENSP00000433471

Symbol
  • HT007
  • MC1DN29
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.91
cell type or tissue
0.89
transcription factor binding site profile
0.81
disease perturbation
0.62
transcription factor
0.6


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 6.9   (req: < 5)
Gene RIFs: 3   (req: <= 3)
Antibodies: 56   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 6.9   (req: >= 5)
Gene RIFs: 3   (req: > 3)
Antibodies: 56   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Term: 1
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
waist-hip ratio
1
1
1
54.4
mathematical ability
1
1
1
44.2
age at first sexual intercourse measurement
1
1
1
8.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
waist-hip ratio
1
54.4
mathematical ability
1
44.2
age at first sexual intercourse measurement
1
8.2
Orthologs (8)
1 – 5 of 8
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
transmembrane protein 126B
VGNC:981
749051
Macaque
transmembrane protein 126B
702719
Mouse
MGI:1915722
68472
Rat
RGD:1308371
293114
Dog
transmembrane protein 126B
VGNC:47460
485156
Species
Name
OMA
EggNOG
Inparanoid
Chimp
transmembrane protein 126B
Macaque
transmembrane protein 126B
Mouse
Rat
Dog
transmembrane protein 126B
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q8IUX1-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (7)
Complex I biogenesis (R-HSA-6799198)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 5
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Complex I biogenesis
Reactome
Metabolism
Reactome
Respiratory electron transport
Reactome
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Reactome
The citric acid (TCA) cycle and respiratory electron transport
Name
Explore in Pharos
Explore in Source
Complex I biogenesis
Metabolism
Respiratory electron transport
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
The citric acid (TCA) cycle and respiratory electron transport
Gene Ontology Terms (4)
Items per page:
10
1 – 3 of 3
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
HPA
Traceable Author Statement (TAS)
Reactome
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (96)
1 – 10 of 96
NDUFAF4
Tclin
Family:  Enzyme
Novelty:  0.10799507
p_int:  0.994432807
p_ni:  0.005567172
p_wrong:  2.2e-8
Score:  0.948
Data Source:  BioPlex,STRINGDB
ECSIT
Tbio
Novelty:  0.04690184
p_int:  0.988096198
p_ni:  0.011903802
Score:  0.996
Data Source:  BioPlex,Reactome,STRINGDB
NDUFA13
Tclin
Family:  Enzyme
Novelty:  0.01605077
p_int:  0.970297627
p_ni:  0.029702373
Score:  0.993
Data Source:  BioPlex,STRINGDB
NDUFC2
Tclin
Family:  Enzyme
Novelty:  0.08387385
p_int:  0.887774657
p_ni:  0.1122252
p_wrong:  1.43e-7
Score:  0.989
Data Source:  BioPlex,STRINGDB
APLNR
Tchem
Family:  GPCR
Novelty:  0.00224203
p_int:  0.883608512
p_ni:  0.116391425
p_wrong:  6.3e-8
Data Source:  BioPlex
NDUFS5
Tclin
Family:  Enzyme
Novelty:  0.13274675
p_int:  0.836586209
p_ni:  0.163413656
p_wrong:  1.35e-7
Score:  0.906
Data Source:  BioPlex,STRINGDB
GLMP
Tdark
Novelty:  0.10163099
p_int:  0.820352146
p_ni:  0.179647847
p_wrong:  7e-9
Data Source:  BioPlex
PDCD1
Tclin
Novelty:  0.000448
p_int:  0.814907641
p_ni:  0.185086296
p_wrong:  0.000006062
Data Source:  BioPlex
NDUFB11
Tclin
Family:  Enzyme
Novelty:  0.0401232
p_int:  0.791609913
p_ni:  0.208390087
Score:  0.951
Data Source:  BioPlex,STRINGDB
NDUFAF1
Tclin
Novelty:  0.05630549
p_int:  0.788862947
p_ni:  0.211137053
Score:  0.996
Data Source:  BioPlex,Reactome,STRINGDB
Publication Statistics
PubMed Score  6.90

PubMed score by year
PubTator Score  3.92

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer