UniProtKB - Q8IUX1 (T126B_HUMAN)
Complex I assembly factor TMEM126B, mitochondrial
TMEM126B
Functioni
GO - Biological processi
- mitochondrial respiratory chain complex I assembly Source: UniProtKB
Keywordsi
Molecular function | Chaperone |
Enzyme and pathway databases
PathwayCommonsi | Q8IUX1 |
Reactomei | R-HSA-6799198, Complex I biogenesis |
Protein family/group databases
TCDBi | 9.B.317.1.1, the complex i integral membrane chaparone, tmem126 (tmem126) family |
Names & Taxonomyi
Protein namesi | Recommended name: Complex I assembly factor TMEM126B, mitochondrialAlternative name(s): Transmembrane protein 126B |
Gene namesi | Name:TMEM126B ORF Names:HT007 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000171204.12 |
HGNCi | HGNC:30883, TMEM126B |
MIMi | 615533, gene |
neXtProti | NX_Q8IUX1 |
Subcellular locationi
Mitochondrion
- Mitochondrion membrane 1 Publication; Multi-pass membrane protein 1 Publication
Mitochondrion
- mitochondrial inner membrane Source: Reactome
- mitochondrion Source: HPA
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 72 – 92 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 110 – 130 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 141 – 161 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 199 – 219 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Membrane, MitochondrionPathology & Biotechi
Involvement in diseasei
Mitochondrial complex I deficiency, nuclear type 29 (MC1DN29)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081464 | 70 – 230 | Missing in MC1DN29; loss of function in complex I assembly. 1 PublicationAdd BLAST | 161 | |
Natural variantiVAR_081465 | 212 | G → V in MC1DN29; decreased function in complex I assembly. 2 PublicationsCorresponds to variant dbSNP:rs141542003EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 55863 |
MalaCardsi | TMEM126B |
MIMi | 618250, phenotype |
OpenTargetsi | ENSG00000171204 |
Orphaneti | 2609, Isolated complex I deficiency |
PharmGKBi | PA143485646 |
Miscellaneous databases
Pharosi | Q8IUX1, Tdark |
Polymorphism and mutation databases
BioMutai | TMEM126B |
DMDMi | 134035041 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000280716 | 2 – 230 | Complex I assembly factor TMEM126B, mitochondrialAdd BLAST | 229 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 34 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8IUX1 |
jPOSTi | Q8IUX1 |
MassIVEi | Q8IUX1 |
MaxQBi | Q8IUX1 |
PaxDbi | Q8IUX1 |
PeptideAtlasi | Q8IUX1 |
PRIDEi | Q8IUX1 |
ProteomicsDBi | 70618 [Q8IUX1-1] 70619 [Q8IUX1-2] 70620 [Q8IUX1-3] 70621 [Q8IUX1-4] 70622 [Q8IUX1-5] |
PTM databases
iPTMneti | Q8IUX1 |
PhosphoSitePlusi | Q8IUX1 |
SwissPalmi | Q8IUX1 |
Expressioni
Gene expression databases
Bgeei | ENSG00000171204, Expressed in caudate nucleus and 236 other tissues |
ExpressionAtlasi | Q8IUX1, baseline and differential |
Genevisiblei | Q8IUX1, HS |
Organism-specific databases
HPAi | ENSG00000171204, Low tissue specificity |
Interactioni
Subunit structurei
Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, NDUFAF1, ECSIT, and ACAD9 (By similarity). Associates with the intermediate 370 kDa subcomplex of incompletely assembled complex I.
By similarity1 PublicationBinary interactionsi
Q8IUX1
With | #Exp. | IntAct |
---|---|---|
MRFAP1L1 [Q96HT8] | 3 | EBI-2800657,EBI-748896 |
Protein-protein interaction databases
BioGRIDi | 120965, 31 interactors |
IntActi | Q8IUX1, 15 interactors |
MINTi | Q8IUX1 |
STRINGi | 9606.ENSP00000351737 |
Miscellaneous databases
RNActi | Q8IUX1, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502SQEZ, Eukaryota |
GeneTreei | ENSGT00520000055616 |
HOGENOMi | CLU_105475_0_0_1 |
InParanoidi | Q8IUX1 |
OMAi | CGVLYPT |
OrthoDBi | 1358177at2759 |
PhylomeDBi | Q8IUX1 |
TreeFami | TF327069 |
Family and domain databases
InterProi | View protein in InterPro IPR009801, TMEM126 |
PANTHERi | PTHR16296, PTHR16296, 1 hit |
Pfami | View protein in Pfam PF07114, TMEM126, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVVFGYEAGT KPRDSGVVPV GTEEAPKVFK MAASMHGQPS PSLEDAKLRR
60 70 80 90 100
PMVIEIIEKN FDYLRKEMTQ NIYQMATFGT TAGFSGIFSN FLFRRCFKVK
110 120 130 140 150
HDALKTYASL ATLPFLSTVV TDKLFVIDAL YSDNISKENC VFRSSLIGIV
160 170 180 190 200
CGVFYPSSLA FTKNGRLATK YHTVPLPPKG RVLIHWMTLC QTQMKLMAIP
210 220 230
LVFQIMFGIL NGLYHYAVFE ETLEKTIHEE
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YD74 | H0YD74_HUMAN | Complex I assembly factor TMEM126B,... | TMEM126B | 125 | Annotation score: | ||
E9PKZ9 | E9PKZ9_HUMAN | Complex I assembly factor TMEM126B,... | TMEM126B | 40 | Annotation score: | ||
E9PKZ7 | E9PKZ7_HUMAN | Complex I assembly factor TMEM126B,... | TMEM126B | 58 | Annotation score: | ||
H0YEG5 | H0YEG5_HUMAN | Complex I assembly factor TMEM126B,... | TMEM126B | 40 | Annotation score: | ||
E9PJQ6 | E9PJQ6_HUMAN | Complex I assembly factor TMEM126B,... | TMEM126B | 43 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081464 | 70 – 230 | Missing in MC1DN29; loss of function in complex I assembly. 1 PublicationAdd BLAST | 161 | |
Natural variantiVAR_031188 | 198 | A → V1 PublicationCorresponds to variant dbSNP:rs17850847Ensembl. | 1 | |
Natural variantiVAR_081465 | 212 | G → V in MC1DN29; decreased function in complex I assembly. 2 PublicationsCorresponds to variant dbSNP:rs141542003EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_023870 | 1 – 30 | Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST | 30 | |
Alternative sequenceiVSP_023871 | 1 – 18 | Missing in isoform 2. 1 PublicationAdd BLAST | 18 | |
Alternative sequenceiVSP_023872 | 19 | P → MWIQVWMT in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_023873 | 133 – 140 | DNISKENC → GEFKFTNV in isoform 3. 1 Publication | 8 | |
Alternative sequenceiVSP_023874 | 141 – 230 | Missing in isoform 3. 1 PublicationAdd BLAST | 90 | |
Alternative sequenceiVSP_023875 | 171 – 230 | Missing in isoform 4. 1 PublicationAdd BLAST | 60 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF220193 mRNA Translation: AAF67658.1 CR612738 mRNA No translation available. AK291150 mRNA Translation: BAF83839.1 AP000642 Genomic DNA No translation available. CH471076 Genomic DNA Translation: EAW75098.1 BC012065 mRNA Translation: AAH12065.1 BC017574 mRNA Translation: AAH17574.1 BC038933 mRNA Translation: AAH38933.1 BC107900 mRNA Translation: AAI07901.1 Frameshift. |
CCDSi | CCDS53686.1 [Q8IUX1-5] CCDS8267.2 [Q8IUX1-1] |
RefSeqi | NP_001180467.1, NM_001193538.2 [Q8IUX1-5] NP_001243475.1, NM_001256546.1 [Q8IUX1-5] NP_060950.3, NM_018480.4 [Q8IUX1-1] XP_011543467.1, XM_011545165.2 [Q8IUX1-5] |
Genome annotation databases
Ensembli | ENST00000358867; ENSP00000351737; ENSG00000171204 [Q8IUX1-1] ENST00000393375; ENSP00000377039; ENSG00000171204 [Q8IUX1-5] ENST00000534341; ENSP00000433471; ENSG00000171204 [Q8IUX1-4] |
GeneIDi | 55863 |
KEGGi | hsa:55863 |
UCSCi | uc001pao.4, human [Q8IUX1-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF220193 mRNA Translation: AAF67658.1 CR612738 mRNA No translation available. AK291150 mRNA Translation: BAF83839.1 AP000642 Genomic DNA No translation available. CH471076 Genomic DNA Translation: EAW75098.1 BC012065 mRNA Translation: AAH12065.1 BC017574 mRNA Translation: AAH17574.1 BC038933 mRNA Translation: AAH38933.1 BC107900 mRNA Translation: AAI07901.1 Frameshift. |
CCDSi | CCDS53686.1 [Q8IUX1-5] CCDS8267.2 [Q8IUX1-1] |
RefSeqi | NP_001180467.1, NM_001193538.2 [Q8IUX1-5] NP_001243475.1, NM_001256546.1 [Q8IUX1-5] NP_060950.3, NM_018480.4 [Q8IUX1-1] XP_011543467.1, XM_011545165.2 [Q8IUX1-5] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 120965, 31 interactors |
IntActi | Q8IUX1, 15 interactors |
MINTi | Q8IUX1 |
STRINGi | 9606.ENSP00000351737 |
Protein family/group databases
TCDBi | 9.B.317.1.1, the complex i integral membrane chaparone, tmem126 (tmem126) family |
PTM databases
iPTMneti | Q8IUX1 |
PhosphoSitePlusi | Q8IUX1 |
SwissPalmi | Q8IUX1 |
Polymorphism and mutation databases
BioMutai | TMEM126B |
DMDMi | 134035041 |
Proteomic databases
EPDi | Q8IUX1 |
jPOSTi | Q8IUX1 |
MassIVEi | Q8IUX1 |
MaxQBi | Q8IUX1 |
PaxDbi | Q8IUX1 |
PeptideAtlasi | Q8IUX1 |
PRIDEi | Q8IUX1 |
ProteomicsDBi | 70618 [Q8IUX1-1] 70619 [Q8IUX1-2] 70620 [Q8IUX1-3] 70621 [Q8IUX1-4] 70622 [Q8IUX1-5] |
Protocols and materials databases
Antibodypediai | 17580, 57 antibodies |
DNASUi | 55863 |
Genome annotation databases
Ensembli | ENST00000358867; ENSP00000351737; ENSG00000171204 [Q8IUX1-1] ENST00000393375; ENSP00000377039; ENSG00000171204 [Q8IUX1-5] ENST00000534341; ENSP00000433471; ENSG00000171204 [Q8IUX1-4] |
GeneIDi | 55863 |
KEGGi | hsa:55863 |
UCSCi | uc001pao.4, human [Q8IUX1-1] |
Organism-specific databases
CTDi | 55863 |
DisGeNETi | 55863 |
EuPathDBi | HostDB:ENSG00000171204.12 |
GeneCardsi | TMEM126B |
HGNCi | HGNC:30883, TMEM126B |
HPAi | ENSG00000171204, Low tissue specificity |
MalaCardsi | TMEM126B |
MIMi | 615533, gene 618250, phenotype |
neXtProti | NX_Q8IUX1 |
OpenTargetsi | ENSG00000171204 |
Orphaneti | 2609, Isolated complex I deficiency |
PharmGKBi | PA143485646 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502SQEZ, Eukaryota |
GeneTreei | ENSGT00520000055616 |
HOGENOMi | CLU_105475_0_0_1 |
InParanoidi | Q8IUX1 |
OMAi | CGVLYPT |
OrthoDBi | 1358177at2759 |
PhylomeDBi | Q8IUX1 |
TreeFami | TF327069 |
Enzyme and pathway databases
PathwayCommonsi | Q8IUX1 |
Reactomei | R-HSA-6799198, Complex I biogenesis |
Miscellaneous databases
BioGRID-ORCSi | 55863, 23 hits in 846 CRISPR screens |
ChiTaRSi | TMEM126B, human |
GeneWikii | TMEM126B |
GenomeRNAii | 55863 |
Pharosi | Q8IUX1, Tdark |
PROi | PR:Q8IUX1 |
RNActi | Q8IUX1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000171204, Expressed in caudate nucleus and 236 other tissues |
ExpressionAtlasi | Q8IUX1, baseline and differential |
Genevisiblei | Q8IUX1, HS |
Family and domain databases
InterProi | View protein in InterPro IPR009801, TMEM126 |
PANTHERi | PTHR16296, PTHR16296, 1 hit |
Pfami | View protein in Pfam PF07114, TMEM126, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | T126B_HUMAN | |
Accessioni | Q8IUX1Primary (citable) accession number: Q8IUX1 Secondary accession number(s): A8K535 Q9NZ29 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 20, 2007 |
Last sequence update: | March 20, 2007 | |
Last modified: | December 2, 2020 | |
This is version 124 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations