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

Gene ID: 55863, updated on 4-Nov-2018

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; Vega:OTTHUMG00000166974
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
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

Genomic context

See TMEM126B in Genome Data Viewer
Location:
11q14.1
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (85628573..85636540)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (85339617..85347583)

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 Jun 15 11:32:44 2016

Bibliography

Phenotypes

Associated conditions

Description Tests
Mitochondrial complex I deficiency
MedGen: C1838979 OMIM: 252010 GeneReviews: Not available
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NHGRI 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.
NHGRI GWA Catalog

Pathways from BioSystems

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
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
complex I assembly factor TMEM126B, mitochondrial

NCBI Reference Sequences (RefSeq)

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:53149
    TMEM126; Transmembrane protein 126
  6. NM_001350394.1NP_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_001350395.1NP_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_001350396.1NP_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_018480.5NP_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, AP000642, BE781669, BM746060, DB530931
    Consensus CDS
    CCDS8267.2
    UniProtKB/Swiss-Prot
    Q8IUX1
    Related
    ENSP00000351737.6, OTTHUMP00000234589, ENST00000358867.10
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 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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