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Details on Person UniProt:Q8IUX1 TMEM126B
| Class:Id | ReferenceGeneProduct:250200 |
|---|---|
| _chainChangeLog | chain:1-230 added on Sat February 7 2015;chain:1-230 removed on Tue November 3 2015;initiator methionine:1 added on Tue November 3 2015;chain:2-230 added on Tue November 3 2015;initiator methionine:1 for 250200 removed on Fri Nov 03 2023;initiator methionine: for 250200 added on Fri Nov 03 2023;initiator methionine: for 250200 removed on Fri Aug 15 2025;initiator methionine:1 for 250200 added on Fri Aug 15 2025 |
| _displayName | UniProt:Q8IUX1 TMEM126B |
| _timestamp | 2025-08-15 21:49:30 |
| chain | initiator methionine:1 chain:2-230 |
| checksum | B0EB374211C3CF52 |
| comment | FUNCTION As part of the MCIA complex, involved in the assembly of the mitochondrial complex I (PubMed:27374773, PubMed:27374774, PubMed:32320651). Participates in constructing the membrane arm of complex I (PubMed:24191001).SUBUNIT Part of the mitochondrial complex I assembly/MCIA complex that comprises at least the core subunits TMEM126B, NDUFAF1, ECSIT and ACAD9 and complement subunits such as COA1 and TMEM186 (PubMed:32320651). Associates with the intermediate 370 kDa subcomplex of incompletely assembled complex I (PubMed:24191001). Interacts with TMEM70 (PubMed:33753518).INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the TMEM126 family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: fullName evidence="11"Complex I assembly factor TMEM126B, mitochondrial alternativeName: Transmembrane protein 126B |
| geneName | TMEM126B HT007 |
| identifier | Q8IUX1 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Chaperone Disease variant Membrane Mitochondrion Phosphoprotein Primary mitochondrial disease Proteomics identification Reference proteome Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | TMEM126B |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8993347] ENSEMBL:ENSG00000171204 TMEM126B [Homo sapiens] |
| secondaryIdentifier | T126B_HUMAN A8K535 A8MSS0 Q32Q09 Q8WVU3 Q96EP3 Q9NZ29 |
| sequenceLength | 230 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:250201] UniProt:Q8IUX1-2 TMEM126B [Homo sapiens] [ReferenceIsoform:250202] UniProt:Q8IUX1-3 TMEM126B [Homo sapiens] [ReferenceIsoform:250203] UniProt:Q8IUX1-4 TMEM126B [Homo sapiens] [ReferenceIsoform:250204] UniProt:Q8IUX1-5 TMEM126B [Homo sapiens] [ReferenceIsoform:410792] UniProt:Q8IUX1-1 TMEM126B [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:5689046] TMEM126B [mitochondrial inner membrane] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q8IUX1 TMEM126B (250200)
