Version 5.4
Homo sapiens Protein: TMEM126A
Summary
InnateDB Protein IDBP-66433.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM126A
Protein Name transmembrane protein 126A
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000306887
InnateDB Gene IDBG-66431 (TMEM126A)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Mitochondrion inner membrane {ECO:0000269PubMed:19327736, ECO:0000269PubMed:23500070}; Multi- pass membrane protein {ECO:0000269PubMed:19327736, ECO:0000269PubMed:23500070}.
Disease Associations Optic atrophy 7 (OPA7) [MIM:612989]: A hereditary condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. {ECO:0000269PubMed:19327736}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Strongly expressed in brain, cerebellum, skeletal muscle, testis. High expression also found in fetal brain, fetal retinal pigmentary epithelium, and fetal retina. Highly expressed in retinal ganglion cells. {ECO:0000269PubMed:19327736, ECO:0000269PubMed:23500070}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0021554 optic nerve development
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR009801 Protein of unknown function DUF1370, TMEM126
PFAM PF07114
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H061
PhosphoSite PhosphoSite-Q9H061
TrEMBL
UniProt Splice Variant
Entrez Gene 84233
UniGene
RefSeq NP_115649
HUGO HGNC:25382
OMIM 612988
CCDS CCDS8268
HPRD 13216
IMGT
EMBL AK312081 AL136941 AP000642 BC007875 CH471076
GenPept AAH07875 BAG35017 CAB66875 EAW75102

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca