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UniProtKB - Q8IUX1 (T126B_HUMAN)

Entry version 119 (11 Dec 2019)
Sequence version 2 (20 Mar 2007)
Previous versions | rss
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Protein

Complex I assembly factor TMEM126B, mitochondrial

Gene

TMEM126B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChaperone

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6799198 Complex I biogenesis

Protein family/group databases

Transport Classification Database

More...TCDBi		9.B.317.1.1 the complex i integral membrane chaparone, tmem126 (tmem126) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Complex I assembly factor TMEM126B, mitochondrial
Alternative name(s):
Transmembrane protein 126B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TMEM126B
ORF Names:HT007
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000171204.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:30883 TMEM126B

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615533 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8IUX1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei72 – 92HelicalSequence analysisAdd BLAST21
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21
Transmembranei141 – 161HelicalSequence analysisAdd BLAST21
Transmembranei199 – 219HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mitochondrial complex I deficiency, nuclear type 29 (MC1DN29)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08146470 – 230Missing in MC1DN29; loss of function in complex I assembly. 1 PublicationAdd BLAST161
Natural variantiVAR_081465212G → V in MC1DN29; decreased function in complex I assembly. 2 PublicationsCorresponds to variant dbSNP:rs141542003EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		55863

MalaCards human disease database

More...MalaCardsi		TMEM126B
MIMi618250 phenotype

Open Targets

More...OpenTargetsi		ENSG00000171204

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		2609 Isolated complex I deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA143485646

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8IUX1 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TMEM126B

Domain mapping of disease mutations (DMDM)

More...DMDMi		134035041

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002807162 – 230Complex I assembly factor TMEM126B, mitochondrialAdd BLAST229

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei34PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8IUX1

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8IUX1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8IUX1

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8IUX1

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8IUX1

PeptideAtlas

More...PeptideAtlasi		Q8IUX1

PRoteomics IDEntifications database

More...PRIDEi		Q8IUX1

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		70618 [Q8IUX1-1]
70619 [Q8IUX1-2]
70620 [Q8IUX1-3]
70621 [Q8IUX1-4]
70622 [Q8IUX1-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8IUX1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8IUX1

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q8IUX1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000171204 Expressed in 226 organ(s), highest expression level in caudate nucleus

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8IUX1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8IUX1 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA014480
HPA019186

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
Q96HT83EBI-2800657,EBI-748896

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		120965, 30 interactors

Protein interaction database and analysis system

More...IntActi		Q8IUX1, 15 interactors

Molecular INTeraction database

More...MINTi		Q8IUX1

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000351737

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8IUX1 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TMEM126 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IZUN Eukaryota
ENOG41118MK LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00520000055616

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000013087

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8IUX1

KEGG Orthology (KO)

More...KOi		K18165

Identification of Orthologs from Complete Genome Data

More...OMAi		LCQTEVK

Database of Orthologous Groups

More...OrthoDBi		1358177at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8IUX1

TreeFam database of animal gene trees

More...TreeFami		TF327069

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009801 TMEM126

The PANTHER Classification System

More...PANTHERi		PTHR16296 PTHR16296, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07114 TMEM126, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IUX1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:230
Mass (Da):25,943
Last modified:March 20, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB0EB374211C3CF52
GO
Isoform 2 (identifier: Q8IUX1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: Missing.
     19-19: P → MWIQVWMT

Show »
Length:219
Mass (Da):25,028
Checksum:iA9DC0A093F4F5415
GO
Isoform 3 (identifier: Q8IUX1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: Missing.
     133-140: DNISKENC → GEFKFTNV
     141-230: Missing.

Show »
Length:110
Mass (Da):12,517
Checksum:i1215FE57F2EEEC01
GO
Isoform 4 (identifier: Q8IUX1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     171-230: Missing.

Show »
Length:170
Mass (Da):18,890
Checksum:i4C672BB8E265A167
GO
Isoform 5 (identifier: Q8IUX1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: Missing.

Show »
Length:200
Mass (Da):22,766
Checksum:iF87140CC9A249FD1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PKZ9E9PKZ9_HUMAN
Complex I assembly factor TMEM126B,...
TMEM126B
40Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YD74H0YD74_HUMAN
Complex I assembly factor TMEM126B,...
TMEM126B
125Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PKZ7E9PKZ7_HUMAN
Complex I assembly factor TMEM126B,...
TMEM126B
58Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YEG5H0YEG5_HUMAN
Complex I assembly factor TMEM126B,...
TMEM126B
40Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PJQ6E9PJQ6_HUMAN
Complex I assembly factor TMEM126B,...
TMEM126B
43Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAI07901 differs from that shown. Reason: Frameshift.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08146470 – 230Missing in MC1DN29; loss of function in complex I assembly. 1 PublicationAdd BLAST161
Natural variantiVAR_031188198A → V1 PublicationCorresponds to variant dbSNP:rs17850847Ensembl.1
Natural variantiVAR_081465212G → V in MC1DN29; decreased function in complex I assembly. 2 PublicationsCorresponds to variant dbSNP:rs141542003EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0238701 – 30Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST30
Alternative sequenceiVSP_0238711 – 18Missing in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_02387219P → MWIQVWMT in isoform 2. 1 Publication1
Alternative sequenceiVSP_023873133 – 140DNISKENC → GEFKFTNV in isoform 3. 1 Publication8
Alternative sequenceiVSP_023874141 – 230Missing in isoform 3. 1 PublicationAdd BLAST90
Alternative sequenceiVSP_023875171 – 230Missing in isoform 4. 1 PublicationAdd BLAST60

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS53686.1 [Q8IUX1-5]
CCDS8267.2 [Q8IUX1-1]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000358867; ENSP00000351737; ENSG00000171204 [Q8IUX1-1]
ENST00000393375; ENSP00000377039; ENSG00000171204 [Q8IUX1-5]
ENST00000534341; ENSP00000433471; ENSG00000171204 [Q8IUX1-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55863

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55863

UCSC genome browser

More...UCSCi		uc001pao.4 human [Q8IUX1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
CCDSiCCDS53686.1 [Q8IUX1-5]
CCDS8267.2 [Q8IUX1-1]
RefSeqiNP_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

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi120965, 30 interactors
IntActiQ8IUX1, 15 interactors
MINTiQ8IUX1
STRINGi9606.ENSP00000351737

Protein family/group databases

TCDBi9.B.317.1.1 the complex i integral membrane chaparone, tmem126 (tmem126) family

PTM databases

iPTMnetiQ8IUX1
PhosphoSitePlusiQ8IUX1
SwissPalmiQ8IUX1

Polymorphism and mutation databases

BioMutaiTMEM126B
DMDMi134035041

Proteomic databases

EPDiQ8IUX1
jPOSTiQ8IUX1
MassIVEiQ8IUX1
MaxQBiQ8IUX1
PaxDbiQ8IUX1
PeptideAtlasiQ8IUX1
PRIDEiQ8IUX1
ProteomicsDBi70618 [Q8IUX1-1]
70619 [Q8IUX1-2]
70620 [Q8IUX1-3]
70621 [Q8IUX1-4]
70622 [Q8IUX1-5]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		55863

Genome annotation databases

EnsembliENST00000358867; ENSP00000351737; ENSG00000171204 [Q8IUX1-1]
ENST00000393375; ENSP00000377039; ENSG00000171204 [Q8IUX1-5]
ENST00000534341; ENSP00000433471; ENSG00000171204 [Q8IUX1-4]
GeneIDi55863
KEGGihsa:55863
UCSCiuc001pao.4 human [Q8IUX1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55863
DisGeNETi55863
EuPathDBiHostDB:ENSG00000171204.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		TMEM126B
HGNCiHGNC:30883 TMEM126B
HPAiHPA014480
HPA019186
MalaCardsiTMEM126B
MIMi615533 gene
618250 phenotype
neXtProtiNX_Q8IUX1
OpenTargetsiENSG00000171204
Orphaneti2609 Isolated complex I deficiency
PharmGKBiPA143485646

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IZUN Eukaryota
ENOG41118MK LUCA
GeneTreeiENSGT00520000055616
HOGENOMiHOG000013087
InParanoidiQ8IUX1
KOiK18165
OMAiLCQTEVK
OrthoDBi1358177at2759
PhylomeDBiQ8IUX1
TreeFamiTF327069

Enzyme and pathway databases

ReactomeiR-HSA-6799198 Complex I biogenesis

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		TMEM126B human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TMEM126B

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		55863
PharosiQ8IUX1 Tdark

Protein Ontology

More...PROi		PR:Q8IUX1
RNActiQ8IUX1 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000171204 Expressed in 226 organ(s), highest expression level in caudate nucleus
ExpressionAtlasiQ8IUX1 baseline and differential
GenevisibleiQ8IUX1 HS

Family and domain databases

InterProiView protein in InterPro
IPR009801 TMEM126
PANTHERiPTHR16296 PTHR16296, 1 hit
PfamiView protein in Pfam
PF07114 TMEM126, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiT126B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IUX1
Secondary accession number(s): A8K535
, A8MSS0, Q32Q09, Q8WVU3, Q96EP3, Q9NZ29
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: December 11, 2019
This is version 119 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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