Details for: TMEM126B

Gene ID: 55863

Symbol: TMEM126B

Ensembl ID: ENSG00000171204

Description: transmembrane protein 126B

Associated with

Other Information

Genular Protein ID: 203270243

Symbol: T126B_HUMAN

Name: Transmembrane protein 126B

UniProtKB Accession Codes:

Q8IUX1 A8K535 A8MSS0 Q32Q09 Q8WVU3 Q96EP3 Q9NZ29

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 4 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10931946

Title: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.

PubMed ID: 10931946

DOI: 10.1073/pnas.160270997

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24191001

Title: Assembly factors for the membrane arm of human complex I.

PubMed ID: 24191001

DOI: 10.1073/pnas.1319247110

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 32320651

Title: Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex I.

PubMed ID: 32320651

DOI: 10.1016/j.celrep.2020.107541

PubMed ID: 33753518

Title: TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I.

PubMed ID: 33753518

DOI: 10.1073/pnas.2100558118

PubMed ID: 27374773

Title: Mutations in complex I assembly factor TMEM126B result in muscle weakness and isolated complex I deficiency.

PubMed ID: 27374773

DOI: 10.1016/j.ajhg.2016.05.022

PubMed ID: 27374774

Title: Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype.

PubMed ID: 27374774

DOI: 10.1016/j.ajhg.2016.05.021

Sequence Information:

  • Length: 230
  • Mass: 25943
  • Checksum: B0EB374211C3CF52
  • Sequence:
    • MVVFGYEAGT KPRDSGVVPV GTEEAPKVFK MAASMHGQPS PSLEDAKLRR PMVIEIIEKN 
FDYLRKEMTQ NIYQMATFGT TAGFSGIFSN FLFRRCFKVK HDALKTYASL ATLPFLSTVV 
TDKLFVIDAL YSDNISKENC VFRSSLIGIV CGVFYPSSLA FTKNGRLATK YHTVPLPPKG 
RVLIHWMTLC QTQMKLMAIP LVFQIMFGIL NGLYHYAVFE ETLEKTIHEE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.