User:Marle039/sandbox
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Gene
[edit]Transmembrane protein 248 is a protein that is encoded by the TMEM248 gene. The protein TMEM248 encodes is 314 amino acid long protein containing four transmembrane regions.[1]The TMEM248 gene has 37327 base pairs and spans from position 66,921,225 to position 66,958,551 on chromosome 7.[2] TMEM219 is an important paralog of TMEM248. TMEM248P1 is a pseudogene of TMEM248.[3] TMEM248 is found on chromosome 7 at locus 7q11.21 TMEM248 is located at chromosome 7 at location 7q11.21 and has 7 exons.[1] TMEM248 is on the sense strand.[1][3]
[4]
Messenger RNA|mRNA
[edit]TMEM248 mRNA is 4238 base pairs long. [5] TMEM248 mRNA is most highly expressed in the thyroid, endometrium, prostate, testis, and ovaries, though it is ubiquitously expressed at varying levels in most tissue types.[1]
Protein
[edit]The theoretical molecular weight of the 314 amino acid TMEM248 protein is approximately 35kDa and the theoretical pI is approximately 6. TMEM248 is expected to have a subcellular localization in the plasma membrane and vesicles.[6] Based on predictions from Chou and Fasman Secondary Structure Prediction Server, TMEM248 is primarily made up of beta sheets and helices.[7] TMEM248 protein has four transmembrane domains.[8][9]
Post-translational Modifications
[edit]Predicted post-translational modifications for TMEM248 protein include glycosylation at Asn132, ubiquitination at Lys76, Lys228, and Lys308, and phosphorylation at Y13, S48, and S300.[3] [10]
Homology and Evolution
[edit]TMEM248 arose approximately 700 million years ago.[11] The orthologous space of TMEM248 spreads across mammals, birds, sharks, reptiles, amphibians, bony fishes, a jawless vertebrate, and even some invertebrates. Though conserved in the sea lamprey, TMEM248 is not conserved in other early vertebrates like hagfish. TMEM248 is not found in plants, fungi, prokaryotes, or most other invertebrates.[1][12]
Clinical Significance
[edit]A Geo Profile in NCBI shows expression of TMEM248 is much higher in fetal reticulocytes than in adult reticulocytes. Reticulocytes are immature red blood cells. [4]
GWAS studies found that TMEM248 SNP rs4718428 is associated with corneal topography, and another SNP rs6971897 is associated with corneal thickness.[3]
References
[edit]- ^ a b c d e "TMEM248 transmembrane protein 248 [ Homo sapiens (human) ]". National Library of Medicine. NCBI. Retrieved 30 July 2022.
- ^ "TMEM248". UCSC Genome Browser. University of California, Santa Cruz. Retrieved 3 August 2022.
- ^ a b c d "TMEM248 Gene - Transmembrane Protein 248". GeneCards. Weizmann Institute of Science. Retrieved 3 August 2022.
- ^ a b "TMEM248 - Fetal and adult reticulocytes (HG-U133B)". National Center for Biotechnology Information. National Library of Medicine. Retrieved 3 August 2022.
- ^ "Transmembrane protein 248 [homo sapiens]". Nucleotide. NCBI. Retrieved 3 August 2022.
- ^ "TMEM248". The Human Protein Atlas. The Human Protein Atlas. Retrieved 3 August 2022.
- ^ [biogem.org/tool/chou-fasman/index.php "TMEM248"]. Chou & Fasman Secondary Structure Prediction Server. Chou & Fasman. Retrieved 3 August 2022.
{{cite web}}: Check|url=value (help) - ^ "I-TASSER Protein Structure and Function Predictions". Zhang Lab. University of Michigan. Retrieved 3 August 2022.
- ^ "Web-based 3D Structure Viewer". iCn3D: Web-based 3D Structure Viewer. NCBI. Retrieved 3 August 2022.
- ^ "TMEM248 (human)". PhosphoSite Plus. Cell Signaling Technology. Retrieved 3 August 2022.
- ^ "TimeTree of Life". TimeTree 5, The TimeScale of Life. Institute for Genomics and Evolutionary Medicine Center of Biodiversity Temple University. Retrieved 3 August 2022.
- ^ "BLAST: Basic Local Alignment Search Tool". NCBI. National Library of Medicine. Retrieved 3 August 2022.