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Protein

Complex I assembly factor TMEM126B, mitochondrial

Gene

TMEM126B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.1 Publication

GO - Biological processi

Keywordsi

Molecular functionChaperone

Enzyme and pathway databases

ReactomeiR-HSA-6799198 Complex I biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Complex I assembly factor TMEM126B, mitochondrial
Alternative name(s):
Transmembrane protein 126B
Gene namesi
ORF Names:HT007
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000171204.12
HGNCiHGNC:30883 TMEM126B
MIMi615533 gene
neXtProtiNX_Q8IUX1

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei72 – 92HelicalSequence analysisAdd BLAST21
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21
Transmembranei141 – 161HelicalSequence analysisAdd BLAST21
Transmembranei199 – 219HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi55863
MalaCardsiTMEM126B
OpenTargetsiENSG00000171204
PharmGKBiPA143485646

Polymorphism and mutation databases

BioMutaiTMEM126B
DMDMi134035041

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002807162 – 230Complex I assembly factor TMEM126B, mitochondrialAdd BLAST229

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei34PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8IUX1
MaxQBiQ8IUX1
PaxDbiQ8IUX1
PeptideAtlasiQ8IUX1
PRIDEiQ8IUX1

PTM databases

iPTMnetiQ8IUX1
PhosphoSitePlusiQ8IUX1

Expressioni

Gene expression databases

BgeeiENSG00000171204
CleanExiHS_TMEM126B
ExpressionAtlasiQ8IUX1 baseline and differential
GenevisibleiQ8IUX1 HS

Organism-specific databases

HPAiHPA014480
HPA019186

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 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
MRFAP1L1Q96HT83EBI-2800657,EBI-748896

Protein-protein interaction databases

BioGridi120965, 24 interactors
IntActiQ8IUX1, 10 interactors
MINTiQ8IUX1
STRINGi9606.ENSP00000351737

Structurei

3D structure databases

ProteinModelPortaliQ8IUX1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM126 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IZUN Eukaryota
ENOG41118MK LUCA
GeneTreeiENSGT00520000055616
HOGENOMiHOG000013087
HOVERGENiHBG094016
InParanoidiQ8IUX1
KOiK18165
OMAiLAVKYHT
OrthoDBiEOG091G0RCO
PhylomeDBiQ8IUX1
TreeFamiTF327069

Family and domain databases

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

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

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

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.

« 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
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

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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

Sequence cautioni

The sequence AAI07901 differs from that shown. Reason: Frameshift at position 59.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031188198A → V1 PublicationCorresponds to variant dbSNP:rs17850847Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.525063

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiT126B_HUMAN
AccessioniPrimary (citable) accession number: Q8IUX1
Secondary accession number(s): A8K535
, A8MSS0, Q32Q09, Q8WVU3, Q96EP3, Q9NZ29
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: May 23, 2018
This is version 108 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

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