TMEM126A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | TMEM126A , OPA7, transmembrane protein 126A | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 612988 MGI: 1913521 HomoloGene: 11939 GeneCards: TMEM126A | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Transmembrane protein 126A is a mitochondrial transmembrane protein of unknown function coded for by the TMEM126A gene. [5] [6]
A nonsense mutation in the TMEM126A gene has been shown to be related to optic atrophy. TMEM126A shows higher levels of expression in the parathyroid gland [7] as well as in the peripheral blood cells of Huntington's disease patients, indicating that expression of this protein has some relation to blood regulation.
TMEM126A has two isoforms and is found on the long arm of Chromosome 11 in region 1, band 4, sub-band 1. [8] It is produced by the TMEM126 gene, which codes for a mRNA 726 base pairs long. [9] which translates into a protein 195 amino acids long. [10] In addition, this gene is expressed 1.8 times the average of a normal gene and has expression with the prostate, uterus, kidney, placenta, heart, brain, and a large number of other tissues. [11]
TMEM126 is located on the long arm of chromosome 11 in humans. It is found on the first sub-band of the fourth band within the first region. [9] This can be written as 11q14.1.
TMEM126A is also known as OPA7 and DKFZp586c1924.
TMEM126A has been highly conserved among mammals, never dropping below 60% sequence identity when aligned with the same protein sequence from other species. It has been less well conserved outside of mammals, although it is evident in both fish, birds, and some invertebrates. [12]
Genus and species | Common name | Date of divergence | Accession number | Sequence length | Sequence identity | Sequence similarity | Notes | |
---|---|---|---|---|---|---|---|---|
1 | Gorilla gorilla | Gorilla | 8.8 mya | XP_004051968 | 195 | 98% | 98% | Predicted |
2 | Pongo abelii | Orangutan | 15.7 mya | NP_001127371.1 | 196 | 97% | 98% | Three transmembrane regions |
3 | Macaca mulatta | Rhesus macaque | 29.0 mya | NP_001248065 | 195 | 92% | 95% | |
4 | Bos Taurus | Cow | 94.2 mya | NP_001032697 | 197 | 81% | 87% | Three transmembrane regions |
5 | Canis lupus familiaris | Dog | 94.2 mya | XP_850546 | 197 | 80% | 87% | Predicted |
6 | Felis catus | Cat | 94.2 mya | XP_003992716 | 197 | 78% | 87% | Predicted |
7 | Sus scrofa | Wild boar | 94.2 mya | NP_001230521 | 196 | 76% | 86% | |
8 | Mus musculus | Mouse | 92.3 mya | NP_079736 | 196 | 71% | 84% | Three transmembrane regions |
9 | Rattus norvegicus | Brown rat | 92.3 mya | NP_001011557 | 196 | 70% | 81% | Three transmembrane regions |
10 | Ornithorhynchus anatinus | Platypus | 167.4 mya | XP_001514960 | 126 | 69% | 82% | |
11 | Sarcophilus harrisii | Tasmanian Devil | 162.6 mya | XP_003764651 | 208 | 63% | 80% | Predicted |
12 | Salmo salar | Atlantic salmon | 400.1 mya | NP_001134999 | 206 | 47% | 63% | |
13 | Gallus gallus | Chicken | 296.0 mya | XP_003640643 | 209 | 46% | 70% | Low quality. Predicted. |
14 | Danio rerio | Zebra fish | 400.1 mya | NP_957092 | 201 | 44% | 67% | |
15 | Xenopus laevis | African clawed frog | 371.2 mya | NP_001079826 | 203 | 52% | 69% | |
16 | Cavia porcellus | Guinea pig | 92.3 mya | XP_003468633 | 195 | 74% | 83% | |
17 | Ciona intestinalis | Vase tunicate | 722.5 mya | XP_002124594 | 230 | 28% | 46% |
TMEM126A has a single paralog: TMEM126B. It is also found at 11q14.1 and is also known as HT007. [13] TMEM126B shares 36% sequence identity and 49% sequence similarity with TMEM126A. [12] The central domain is conserved between TMEM126A and TMEM126B. [14]
Promoter sequence:
TTCACCCAACACTGCTTCCAAATAAGCAGTACTCTGGAGAACACGAGAAATCCTCAGAAAAATAAGCTGCAGCTCTGAGG
TGCTGATTATGGTAGGGCAATCAATACAGATCAAAACATGGCACAGGGAGCTTAAGTTCCTAGGGAGAGTAGAAAATCGA
TAGAGCCAAGAAATAGCTCACCTTTGACTTATTTTTAACCTGAGTAGCTATCATATGCCAAGAGCTGTGCAGTTTTCATT
TACCCCATGCCAAGAACGTAAGTAGGCTCTACTGACCAGGAAGTTAAGTAATATGCCCGAGGTACGTTTTCAATGGAAGA
GGCTGACTGAGGGTCACCCAACTTATATCTCGAAATTTCACAATTTCTACAAGTTCTGTCCTGGGAGGCAAGAGTAGGTG
AAACGAGCACACTCTACGCCAGGCAAACAAACCTCAACGCTTAGCCTCCCGGCACCTCCTAGGGCCGGAAGCTTCTCAGC
CCAAAGCCGCTGCTGGCTGCAACCTCCGTCCCGCAGTCCAATTAGCAGCCGCGACCCGGCGCCCGCCCACGCCGCGTCAC
GAGTCAGCCAAAGATGGCTGCGCCCAGGTAATTTGAGCAAAGGCCACAGTGAACTCCGGCGTGGCTGAGGAAGGAGGAGG
CACCCACAGGCTGCTGGGAGGAGAGCATAAGGTACTGGTATTCCGGGGGAGGGGGTGAAGTAAATGTCCCGGTGTCAGGA
GAAGCACGACGCGG [15]
Species | Max Identity |
---|---|
Gorilla gorilla/Western gorilla | 97% |
Pan paniscus | 96% |
Pan troglodytes/Chimpanzee | 95% |
Papio anubis | 92% |
Pongo pygmaeus/Bornean orangutan | 92% |
Macaca mullata | 90% |
There was only one promoter sequence found by using ElDorado on Genomatix. It is 734 base pairs long and found far upstream of the coding region of TMEM126A. The promoter sequence experiences extremely high levels of expression among primates but could not be found in any other species.
The minimum free energy formation has a number of hairpin loops and bulges. Another formation exists with a much larger bulge but which maintains the same hairpin loops.
TMEM126A has a number of likely locations for the formation of hairpin loops, four of which are extremely likely.
In some circumstances, the second exon of the TMEM126A mRNA can be spliced out. This exon contains the main starting codon for the gene. The loss of this region would delay the start of translation until the next methionine, which occurs later in exon 3. Ultimately, this causes a loss of a great deal of genetic information from exons 2 and three.
The protein has three isoforms (a,b and c). The first isoform is the main version and the longest while the other two are both shorter.
TMEM126A has a mixture of alpha helices, beta strands and coils that make up its secondary structure. There are two regions of high alpha-helix density which correspond to the transmembrane regions of the protein.
TMEM126A contains four exons, two transmembrane regions, and three stem-loop capable regions. [16] [17]
A peptide interaction can be found at amino acid 82 and continues to amino acid 90. This regions has good solubility, thanks to the presence of both cysteine and valine, is not conserved in rabbits, which allows for antibody production, and demonstrates high hydrophobicity.
In addition, there are two glycosylation sites at amino acids 13 and 60. [18] as well as one phosphorylation site at amino acid 40 [19]
TMEM126A is expressed ubiquitously throughout the human body at 1.8 times the normal expression level for human genes. It experiences especially high expression in the parathyroid gland. [7] In addition, TMEM126A experiences higher levels of expression in peripheral blood cells in patients diagnosed with Huntington's disease as well as individuals who experience ocular dominance.
TMEM126A interacts with a number of proteins. MYC and MAX form a complex and promote transcription. [20] There is interaction with ATP synthase and the optic atrophy protein. [21] These interactions relate to the proteins function in the mitochondria as well as its medical applications.
A nonsense mutation in the TMEM126A gene has been shown to be related to optic atrophy. [22] This mutation occurs on the second exon of the protein. The mutation results in decreased expression of TMEM126A. It has been demonstrated that a mutated TMEM126A gene can be distinguished from a normal gene through the use of antibodies which recognize the differences between the two. Experiments have shown that it associates with CD137L in myeloid cells. [23]
Interferon-inducible GTPase 5 also known as immunity-related GTPase cinema 1 (IRGC1) is an enzyme that in humans is coded by the IRGC gene. It is predicted to behave like other proteins in the p47-GTPase-like and IRG families. It is most expressed in the testis.
TMEM260 is a protein that in humans is encoded by the TMEM260 gene. The function of TMEM260 is not yet clearly understood. TMEM260 is also known as UPF0679, c14orf101, and FLJ0392.
Transmembrane protein 134 is a protein encoded by the TMEM134 gene. TMEM134 does not have any other known aliases. There are two transmembrane domains and a domain of unknown function (DUF872). Evolutionary, the majority of the organisms that have this gene are primates and mammals, although there are some organisms dating back to Drosophila and C. elegans. Through current research, there has not been any confirmed function of TMEM134.
Family with sequence similarity 63, member A is a protein that, is encoded by the FAM63A gene in humans,. It is located on the minus strand of chromosome 1 at locus 1q21.3.
TMEM249 is a protein that in humans is encoded by the C8orfk29 gene.
The coiled-coil domain containing 142 (CCDC142) is a gene which in humans encodes the CCDC142 protein. The CCDC142 gene is located on chromosome 2, spans 4339 base pairs and contains 9 exons. The gene codes for the coiled-coil domain containing protein 142 (CCDC142), whose function is not yet well understood. There are two known isoforms of CCDC142. CCDC142 proteins produced from these transcripts range in size from 743 to 665 amino acids and contain signals suggesting protein movement between the cytosol and nucleus. Homologous CCDC142 genes are found in many animals including vertebrates and invertebrates but not fungus, plants, protists, archea, or bacteria. Although the function of this protein is not well understood, it contains a coiled-coil domain and a RINT1_TIP1 motif located within the coiled-coil domain.
Chromosome 6 open reading frame 62 (C6orf62), also known as X-trans-activated protein 12 (XTP12), is a gene that encodes a protein of the same name. The encoded protein is predicted to have a subcellular location within the cytosol.
Transmembrane protein 44 is a protein that in humans is encoded by the TMEM44 gene.
TMEM44 is a protein that in humans is encoded by the TMEM44 gene. DKFZp686O18124 is a synonym of TMEM44.
Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. C19orf44 is an uncharacterized protein with an unknown function in humans. C19orf44 is non-limiting implying that the protein exists in other species besides human. The protein contains one domain of unknown function (DUF) that is highly conserved throughout its orthologs. This protein is most highly expressed in the testis and ovary, but also has significant expression in the thyroid and parathyroid. Other names for this protein include: LOC84167.
Chromosome 9 open reading frame 50 is a protein that in humans is encoded by the C9orf50 gene. C9orf50 has one other known alias, FLJ35803. In humans the gene coding sequence is 10,051 base pairs long, transcribing an mRNA of 1,624 bases that encodes a 431 amino acid protein.
C16orf90 or chromosome 16 open reading frame 90 produces uncharacterized protein C16orf90 in homo sapiens. C16orf90's protein has four predicted alpha-helix domains and is mildly expressed in the testes and lowly expressed throughout the body. While the function of C16orf90 is not yet well understood by the scientific community, it has suspected involvement in the biological stress response and apoptosis based on expression data from microarrays and post-translational modification data.
Uncharacterized protein C17orf78 is a protein encoded by the C17orf78 gene in humans. The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The protein is highly expressed in the small intestine, especially the duodenum. The function of C17orf78 is not well defined.
TMEM275 is a protein that in humans is encoded by the TMEM275 gene. TMEM275 has two, highly-conserved, helical trans-membrane regions. It is predicted to reside within the plasma membrane or the endoplasmic reticulum's membrane.
Chromosome 9 open reading frame 85, commonly known as C9orf85, is a protein in Homo sapiens encoded by the C9orf85 gene. The gene is located at 9q21.13. When spliced, four different isoforms are formed. C9orf85 has a predicted molecular weight of 20.17 kdal. Isoelectric point was found to be 9.54. The function of the gene has not yet been confirmed, however it has been found to show high levels of expression in cells of high differentiation.
The FAM214B, also known as protein family with sequence similarity 214, B (FAM214B) is a protein that, in humans, is encoded by the FAM214B gene located on the human chromosome 9. The protein has 538 amino acids. The gene contain 9 exon. There has been studies that there are low expression of this gene in patients with major depression disorder. In most organisms such as mammals, amphibians, reptiles, and birds, there are high levels of gene expression in the bone marrow and blood. For humans in fetal development, FAM214B is mostly expressed in the brains and bone marrow.
Major facilitator superfamily domain containing 6 like (MFSD6L) is a protein encoded by the MFSD6L gene in humans. The MFSD6L protein is a transmembrane protein that is part of the major facilitator superfamily (MFS) that uses chemiosmotic gradients to facilitate the transport of small solutes across cell membranes.
Transmembrane protein 212 is a protein that in humans is encoded by the TMEM212 gene. The protein consists of five transmembrane domains and localizes in the plasma membrane and endoplasmic reticulum. TMEM212 has orthologs in vertebrates but not invertebrates. TMEM212 has been associated with sporadic Parkinson's disease, facial processing, and adiposity in African Americans.
bMERB domain containing 1 is a gene expressed in humans which has broad expression across the brain. This gene codes for bMERB1 domain-containing protein 1 isoform 1. It is predicted that this gene is involved in actin cytoskeleton regulation, microtubule regulation and glial cell migration.
Transmembrane protein 19 is a protein that in humans is encoded by the TMEM19 gene.
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