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

    Gene ID: 55863, updated on 19-Sep-2024

    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; 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

    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

    Expression

    • 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

    Phenotypes

    Associated conditions

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

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    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
      5021..12964
      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
      UniProtKB/TrEMBL
      B4DP48
      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/TrEMBL
      B4DP48
      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/TrEMBL
      B4DP48
      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
      UniProtKB/TrEMBL
      H0YD74
      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
      A8K535, A8MSS0, Q32Q09, Q8IUX1, Q8WVU3, Q96EP3, Q9NZ29
      UniProtKB/TrEMBL
      B4DP48
      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: 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)