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

Gene ID: 55863, updated on 5-Mar-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
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Genomic context

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Location:
11q14.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (85628573..85636540)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (85565250..85573217)
105.20220307 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
  • 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. Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases. Giachin G, et al. Front Mol Biosci, 2016. PMID 27597947, 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. 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
  5. Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. Sánchez-Caballero L, et al. Am J Hum Genet, 2016 Jul 7. PMID 27374773, Free PMC Article

See all (36) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
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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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
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
  
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_2023_10

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

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