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

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: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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	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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G42651 (e-PCR)
- UniSTS:94551

SHGC-79231 (e-PCR)
- UniSTS:102762

A008Z32 (e-PCR)
- UniSTS:77962

RH94372 (e-PCR)
- UniSTS:90506

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 more info	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

NG_053120.1 RefSeqGene

Range

5021..12964

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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
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
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)
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
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
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
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
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

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
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