Tmem126a transmembrane protein 126A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tmem126aprovided by MGI
Official Full Name: transmembrane protein 126Aprovided by MGI
Primary source: MGI:MGI:1913521
See related: Ensembl:ENSMUSG00000030615 AllianceGenome:MGI:1913521
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1810020E01Rik
Summary: Acts upstream of or within toll-like receptor 4 signaling pathway. Located in plasma membrane. Human ortholog(s) of this gene implicated in optic atrophy 7. Orthologous to human TMEM126A (transmembrane protein 126A). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in heart adult (RPKM 24.4), CNS E18 (RPKM 17.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 E1; 7 50.59 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (90099908..90106411, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (90450700..90457203, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMEM126A contributes to the TLR4 signal up-regulating the expression of genes whose products are involved in antigen presentation.
Title: TMEM126A, a CD137 ligand binding protein, couples with the TLR4 signal transduction pathway in macrophages.
TMEM126A binds to the extracellular domain of CD137L and is detected on cell surface by flow cytometry, cell surface expression of TMEM126A may be essential for CD137L reverse signaling.
Title: Novel transmembrane protein 126A (TMEM126A) couples with CD137L reverse signals in myeloid cells.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in mitochondrial protein quality control	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial protein quality control	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial respiratory chain complex I assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in optic nerve development	IEA Inferred from Electronic Annotation more info
involved_in optic nerve development	ISO Inferred from Sequence Orthology more info
involved_in protein insertion into mitochondrial inner membrane from matrix	ISO Inferred from Sequence Orthology more info
involved_in protein insertion into mitochondrial inner membrane from matrix	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within toll-like receptor 4 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transmembrane protein 126A

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.

mRNA and Protein(s)

NM_025460.3 → NP_079736.1 transmembrane protein 126A

Status: VALIDATED

Source sequence(s)

AC100322, AK007559

Consensus CDS

CCDS21447.1

UniProtKB/Swiss-Prot

Q9D8Y1

Related

ENSMUSP00000032844.6, ENSMUST00000032844.7

Conserved Domains (1) summary

pfam07114
Location:14 → 187

DUF1370; Protein of unknown function (DUF1370)