TMEM126B

Protein identityUniProt · HPA

UniProt accession

Q8IUX1

Gene

TMEM126B

Ensembl

ENSG00000171204

Chromosome

11

Canonical length

230 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

Subcellular location

Mitochondria

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

230 residues, UniProt reviewed canonical sequence.

>Q8IUX1|TMEM126B
     1  MVVFGYEAGT KPRDSGVVPV GTEEAPKVFK MAASMHGQPS PSLEDAKLRR PMVIEIIEKN
    61  FDYLRKEMTQ NIYQMATFGT TAGFSGIFSN FLFRRCFKVK HDALKTYASL ATLPFLSTVV
   121  TDKLFVIDAL YSDNISKENC VFRSSLIGIV CGVFYPSSLA FTKNGRLATK YHTVPLPPKG
   181  RVLIHWMTLC QTQMKLMAIP LVFQIMFGIL NGLYHYAVFE ETLEKTIHEE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM126B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.39

Highest tissue expression

29 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM126B.

Disease | AllUniProt

Conditions TMEM126B is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 29 (MC1DN29) MIM:618250

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 132 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 29
• Mitochondrial disease
• Mitochondrial complex I deficiency
• Colon adenocarcinoma
• Mitochondrial complex I deficiency, nuclear type 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.64

gnomAD pLI

0

gnomAD missense Z

-0.18

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial respiratory chain complex I assembly
• response to food

Cellular components

• mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Transmembrane protein 126
• Transmembrane protein 126

KeywordsUniProt

• Chaperone
• Membrane
• Mitochondrion
• Phosphoprotein
• Primary mitochondrial disease
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of TMEM126B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TMEM70