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

    Gene ID: 55863, updated on 8-Jul-2021

    Summary

    Official Symbol
    TMEM126Bprovided by HGNC
    Official Full Name
    transmembrane protein 126Bprovided by HGNC
    Primary source
    HGNC:HGNC:30883
    See related
    Ensembl:ENSG00000171204 MIM:615533
    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

    See TMEM126B in Genome Data Viewer
    Location:
    11q14.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (85628573..85636540)
    105.20201022 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 RNA, U6 small nuclear 1292, pseudogene Neighboring gene transmembrane protein 126A Neighboring gene CREB/ATF bZIP transcription factor

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
    GeneReviews: Not available
    Mitochondrial complex 1 deficiency, nuclear type 29
    MedGen: C4748830 OMIM: 618250 GeneReviews: Not available
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    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    complex I assembly factor TMEM126B, mitochondrial

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5001..12968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193537.3NP_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
      Conserved Domains (1) summary
      pfam07114
      Location:31204
      DUF1370; Protein of unknown function (DUF1370)
    2. NM_001193538.3NP_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/Swiss-Prot
      Q8IUX1
      UniProtKB/TrEMBL
      A0A024R5L4
      Related
      ENSP00000377039.1, ENST00000393375.5
      Conserved Domains (1) summary
      pfam07114
      Location:21194
      TMEM126; Transmembrane protein 126
    3. NM_001256546.2NP_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/Swiss-Prot
      Q8IUX1
      UniProtKB/TrEMBL
      A0A024R5L4
      Conserved Domains (1) summary
      pfam07114
      Location:21194
      TMEM126; Transmembrane protein 126
    4. NM_001256547.2NP_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:15178
      DUF1370; Protein of unknown function (DUF1370)
    5. NM_001350393.1NP_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
      Related
      ENSP00000433116.1, ENST00000531274.1
      Conserved Domains (1) summary
      pfam07114
      Location:55149
      TMEM126; Transmembrane protein 126
    6. NM_001350394.2NP_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:51134
      TMEM126; Transmembrane protein 126
    7. NM_001350395.2NP_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:31114
      TMEM126; Transmembrane protein 126
    8. NM_001350396.2NP_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:21104
      TMEM126; Transmembrane protein 126
    9. NM_018480.7NP_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
      Q8IUX1
      Related
      ENSP00000351737.7, ENST00000358867.11
      Conserved Domains (1) summary
      pfam07114
      Location:51224
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011545165.3XP_011543467.1  complex I assembly factor TMEM126B, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011543467.1

      UniProtKB/Swiss-Prot
      Q8IUX1
      UniProtKB/TrEMBL
      A0A024R5L4
      Conserved Domains (1) summary
      pfam07114
      Location:21194
      TMEM126; Transmembrane protein 126
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