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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-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

Complete GO annotation...

Keywords - Molecular functioni

Chaperone

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
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:30883. TMEM126B.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Organism-specific databases

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. 20 interactors.
IntActiQ8IUX1. 7 interactors.
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.
OMAiNCVFRSS.
OrthoDBiEOG091G0RCO.
PhylomeDBiQ8IUX1.
TreeFamiTF327069.

Family and domain databases

InterProiIPR009801. TMEM126.
[Graphical view]
PANTHERiPTHR16296. PTHR16296. 1 hit.
PfamiPF07114. TMEM126. 1 hit.
[Graphical view]

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 → V.1 PublicationCorresponds to variant rs17850847dbSNPEnsembl.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

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]
UniGeneiHs.525063.

3D structure databases

ProteinModelPortaliQ8IUX1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120965. 20 interactors.
IntActiQ8IUX1. 7 interactors.
STRINGi9606.ENSP00000351737.

PTM databases

iPTMnetiQ8IUX1.
PhosphoSitePlusiQ8IUX1.

Polymorphism and mutation databases

BioMutaiTMEM126B.
DMDMi134035041.

Proteomic databases

EPDiQ8IUX1.
MaxQBiQ8IUX1.
PaxDbiQ8IUX1.
PeptideAtlasiQ8IUX1.
PRIDEiQ8IUX1.

Protocols and materials databases

DNASUi55863.
Structural Biology KnowledgebaseSearch...

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

CTDi55863.
GeneCardsiTMEM126B.
HGNCiHGNC:30883. TMEM126B.
HPAiHPA014480.
HPA019186.
MIMi615533. gene.
neXtProtiNX_Q8IUX1.
OpenTargetsiENSG00000171204.
PharmGKBiPA143485646.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-6799198. Complex I biogenesis.

Miscellaneous databases

ChiTaRSiTMEM126B. human.
GeneWikiiTMEM126B.
GenomeRNAii55863.
PROiQ8IUX1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171204.
CleanExiHS_TMEM126B.
ExpressionAtlasiQ8IUX1. baseline and differential.
GenevisibleiQ8IUX1. HS.

Family and domain databases

InterProiIPR009801. TMEM126.
[Graphical view]
PANTHERiPTHR16296. PTHR16296. 1 hit.
PfamiPF07114. TMEM126. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiT126B_HUMAN
AccessioniPrimary (citable) accession number: Q8IUX1
Secondary accession number(s): A8K535
, A8MSS0, Q32Q09, Q8WVU3, Q96EP3, Q9NZ29
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: November 2, 2016
This is version 100 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.