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    TMEM126B transmembrane protein 126B [ Homo sapiens (human) ]

    Gene ID: 55863, updated on 14-Nov-2024

    Summary

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    Official Symbol
    TMEM126Bprovided by HGNC
    Official Full Name
    transmembrane protein 126Bprovided by HGNC
    Primary source
    HGNC:HGNC:30883
    See related
    Ensembl:ENSG00000171204 MIM:615533; AllianceGenome:HGNC:30883
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HT007; MC1DN29
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 18.2), fat (RPKM 17.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM126B in Genome Data Viewer
    Location:
    11q14.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (85628573..85636540)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (85565250..85573217)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (85339617..85347584)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene discs large MAGUK scaffold protein 2 Neighboring gene DExH-box helicase 9 pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:85181858-85182577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:85183649-85184545 Neighboring gene Sharpr-MPRA regulatory region 9338 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:85248765-85249264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:85250835-85251373 Neighboring gene RNA, U6 small nuclear 1292, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:85317081-85318280 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:85319023-85319982 Neighboring gene MPRA-validated peak1373 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5363 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:85338434-85338942 Neighboring gene MPRA-validated peak1374 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:85383205-85383705 Neighboring gene transmembrane protein 126A Neighboring gene CREB/ATF bZIP transcription factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency. Zhou X, et al. J Hum Genet, 2023 Apr. PMID 36482121, Free PMC Article
    2. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. Pronicka E, et al. J Transl Med, 2016 Jun 12. PMID 27290639, Free PMC Article
    3. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Alston CL, et al. Am J Hum Genet, 2016 Jul 7. PMID 27374774, Free PMC Article
    4. Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases. Giachin G, et al. Front Mol Biosci, 2016. PMID 27597947, Free PMC Article
    5. Assembly factors for the membrane arm of human complex I. Andrews B, et al. Proc Natl Acad Sci U S A, 2013 Nov 19. PMID 24191001, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency.
      Title: Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency.
    2. Data show that attenuating a functional complex I assembly appears critical for cellular adaptation towards chronic hypoxia and is linked to destruction of the mitochondrial assembly factor transmembrane protein 126B (TMEM126B).
      Title: Degradation of the mitochondrial complex I assembly factor TMEM126B under chronic hypoxia.
    3. functional experimentation including viral rescue and complexome profiling of subject cell lines has confirmed TMEM126B as the tenth complex I assembly factor associated with human disease and validates the importance of both genome-wide sequencing and proteomic approaches in characterizing disease-associated genes whose physiological roles have been previously undetermined
      Title: Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
    4. results show that TMEM126B defects can lead to complex I deficiencies and, interestingly, that symptoms can occur only after exercise
      Title: Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial complex 1 deficiency, nuclear type 29
    MedGen: C4748830 OMIM: 618250 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC111203

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial respiratory chain complex I assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to food IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    complex I assembly factor TMEM126B, mitochondrial

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053120.1 RefSeqGene

      Range
      5021..12964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193537.3 → NP_001180466.1  complex I assembly factor TMEM126B, mitochondrial isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a shorter and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AK298189, AP000642, BE781669, BF244908, DB530931
      UniProtKB/TrEMBL
      B4DP48
      Conserved Domains (1) summary
      pfam07114
      Location:31 → 204
      DUF1370; Protein of unknown function (DUF1370)

    2. NM_001193538.3 → NP_001180467.1  complex I assembly factor TMEM126B, mitochondrial isoform c

      See identical proteins and their annotated locations for NP_001180467.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a. Both variants 3 and 5 encode the same isoform (c).
      Source sequence(s)
      AK291150, AP000642, BE781669, DB530931
      Consensus CDS
      CCDS53686.1
      UniProtKB/TrEMBL
      B4DP48
      Related
      ENSP00000377039.1, ENST00000393375.5
      Conserved Domains (1) summary
      pfam07114
      Location:21 → 194
      TMEM126; Transmembrane protein 126

    3. NM_001256546.2 → NP_001243475.1  complex I assembly factor TMEM126B, mitochondrial isoform c

      See identical proteins and their annotated locations for NP_001243475.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 3 and 5 encode the same isoform (c).
      Source sequence(s)
      AK298189, AP000642, BE781669, BP264186, DB530931
      Consensus CDS
      CCDS53686.1
      UniProtKB/TrEMBL
      B4DP48
      Conserved Domains (1) summary
      pfam07114
      Location:21 → 194
      TMEM126; Transmembrane protein 126

    4. NM_001256547.2 → NP_001243476.1  complex I assembly factor TMEM126B, mitochondrial isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon in the 5' coding region and initiates translation at an alternate start codon, which results in a frameshift, compared to variant 1. The encoded isoform (d) has a shorter and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AK298189, AP000642, AV728059, BE781669, DB530931
      Conserved Domains (1) summary
      pfam07114
      Location:15 → 178
      DUF1370; Protein of unknown function (DUF1370)

    5. NM_001350393.1 → NP_001337322.1  complex I assembly factor TMEM126B, mitochondrial isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate exon in the 5' coding region and uses an alternate splice site in the 3' coding region which results in the frameshift, compared to variant 1. The encoded isoform (e) is shorter and has a distinct internal segment, compared to isoform a.
      Source sequence(s)
      AA005078, AP000642
      UniProtKB/TrEMBL
      H0YD74
      Related
      ENSP00000433116.1, ENST00000531274.1
      Conserved Domains (1) summary
      pfam07114
      Location:55 → 149
      TMEM126; Transmembrane protein 126

    6. NM_001350394.2 → NP_001337323.1  complex I assembly factor TMEM126B, mitochondrial isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (f) has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AP000642
      Conserved Domains (1) summary
      pfam07114
      Location:51 → 134
      TMEM126; Transmembrane protein 126

    7. NM_001350395.2 → NP_001337324.1  complex I assembly factor TMEM126B, mitochondrial isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' and 3' UTRs, differs in the 5' and 3' coding regions, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (g) is shorter and has distinct N- and C-termini, compared to isoform a.
      Source sequence(s)
      AP000642, BG170146
      Conserved Domains (1) summary
      pfam07114
      Location:31 → 114
      TMEM126; Transmembrane protein 126

    8. NM_001350396.2 → NP_001337325.1  complex I assembly factor TMEM126B, mitochondrial isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' and 3' UTRs, differs in the 3' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (h) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AP000642, BC017574
      Conserved Domains (1) summary
      pfam07114
      Location:21 → 104
      TMEM126; Transmembrane protein 126

    9. NM_018480.7 → NP_060950.3  complex I assembly factor TMEM126B, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_060950.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AK298189, BC012065, DA201774, DB530931
      Consensus CDS
      CCDS8267.2
      UniProtKB/Swiss-Prot
      A8K535, A8MSS0, Q32Q09, Q8IUX1, Q8WVU3, Q96EP3, Q9NZ29
      UniProtKB/TrEMBL
      B4DP48
      Related
      ENSP00000351737.7, ENST00000358867.11
      Conserved Domains (1) summary
      pfam07114
      Location:51 → 224
      DUF1370; Protein of unknown function (DUF1370)

    RNA

    1. NR_146645.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) contains an alternate exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP000642
      Related
      ENST00000529197.1

    2. NR_146646.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP000642

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      85628573..85636540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      85565250..85573217
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IUX1.2 GenPept UniProtKB/Swiss-Prot:Q8IUX1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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