Chromosome 20 open reading frame 141 (c20orf141) is a protein encoded by the c20orf141 gene in Humans (Homo sapiens).[5] Human c20orf141 is located on the short arm of Chromosome 20 in region 1 and band 3.[6] It is a single-pass membrane protein predicted to be localized in the membrane, and is a member of the uncharacterized DUF5562 (PF17717) protein superfamily.[7]
Human c20orf141 spans 5,136 base pairs, from positions 2,795,614 to 2,800,930 on the plus strand of Chromosome 20 (20p13).[8] It sits downstream of a carboxypeptidase-encoding gene and upstream of a vacuolar protein sorting gene.[5] C20orf141 sits upstream of PC-Esterase Domain Containing 1A (PCED1A), Receptor-Type Tyrosine-Protein Phosphatase Alpha (PTPRA), Vacuolar Protein Sorting Protein 16 (VPS16).[6] C20orf141 is also downstream of Carboxypeptidase X1 (CPXM1) and overlaps with Transmembrane Protein 239 (TMEM239).[6]
C20orf141 is also known under the aliases MGC26144 and LOC128653.[8]
5'-3' gene neighborhood depiction of c20orf141 (denoted by dark blue) on Chromosome 20. Four Neighbors are denoted by light blue.
RNA transcript
Human c20orf141 has two mRNA transcript variants, differing in 5' and 3' untranslated regions (UTRs).[8] mRNA transcript variant 1 contains 2 exons and 1 intron, while mRNA transcript variant 2 contains 3 exons and 2 introns.[8] Both mRNA variants encode the same protein isoform.[8]
Protein
Human c20orf141 is predicted to be a single-pass membrane protein.[9] The protein encoded by the gene c20orf141 has 165 amino acids, a molecular weight of ~17.4 kDa, and an isoelectric point of ~7.8.[9][10][11] There is only one human isoform of c20orf141.[9] C20orf141 is leucine-rich compared to other human proteins but poor in asparagine, tyrosine, and lysine.[12] DTU Health predicts six different phosphorylation sites at Ser31, Ser66, Ser50, Thr67, Ser104, and Ser129.[13]
2D diagram of c20orf141 protein sequence, including exon junctions, predicted post-translational modifications, and major motifs.
Human c20orf141 has a disordered region and transmembrane domain.[9] However, human c20orf141 has two predicted alpha helices in concentrated clusters of hydrophobic amino acids.[14][15][16]
UniProt protein structure of c20orf141 viewed through NCBI iCn3D structural viewer. A) accuracy probabilities of c20orf141 (blue means more likely). B) The C-terminus is depicted in purple, and the N-terminus is denoted in red. C) hydrophobicity of c20orf141, where darker green indicates higher hydrophobicity. D) charges of c20orf141, where blue is negative and red is positive.
Localization
Rabbit c20orf141 protein is localized in the plasma membrane of cells, as identified by an immunocytochemistry analysis of the GAMG cell line.[17] Human c20orf141 is predicted to be subcellularly localized in membrane-bound organelles, specifically the endoplasmic reticulum according to PSORT II.[18]
Conceptual translation
Conceptual translation of human c20orf141 transcript variant 1.
Protein-protein interactions
Human c20orf141 is an interaction partner with Apolipoprotein E (APOE), Ataxin-1 (ATXN1), Huntingtin (HTT), and Junctophilin-3 (JPH3), which are involved in neuronal development and implicated in neurological disorders like Bipolar Disorder, Huntington's Disease, and Alzheimer's.[19] One study investigating laminopathies found no evidence that the protein encoded by human c20orf141 binds to or interacts with lamin A, a structural integrity protein.[20] In addition to neurological-associated proteins, human c20orf141 binds to major inflammatory and immune response regulators like ENDOD1, IL17F, and ZDHHC17.[21] Human 20orf141 also engages in protein-protein interactions with CCDC12, FUNDC2, and ACTA2, which are involved in blood cell maintenance and survival.[21]
Expression
Tissues
Human c20orf141 is expressed highly in the placenta, testis, and epididymis.[8][22] Moderate levels of human c20orf141 expression are also seen in the adrenal gland, fetal brain, heart, fetal kidney, skeletal muscle, ovary, and skin tissues.[22] Expression is observed to be incredibly low in the colon and retina tissue.[22]
Conditions
Human c20orf141 expression in intestinal cells is relatively low when linoleic acid or a mixture of trans-10 and cis-12 conjugated linoleic acid (CLA) is present.[23] However, when both cis-9 and trans-11 CLA isomers, associated with anti-inflammatory responses, are present, c20orf141 expression drops significantly and becomes in the bottom 25th percentile of gene expression.[23][24]
c20orf141 baseline expression is relatively low in tubular cells.[25] Expression is also unchanged in the presence of only C-peptide or a mixture of TGF-β1 and C-peptide.[25] However, c20orf141 expression drops to very low levels when in the presence of only TGF-β1.[25]
At baseline levels in CUTLL1 cells, expression is low to moderate (just above the 50th percentile of overall expression).[26] The transduction of MigR1 and DN-MAML plasmid vectors to activate the Notch cell-communication pathway results in lower expression of c20orf141.[26]
eQTLs
GTExPortal eQTLs of c20orf141. A) Expression in subcutaneous adipose fat tissue (rs3830832). B) Expression in cultured fibroblast cells (rs73077077). C) Expression in cultured fibroblast cells (rs3830832). D) Expression in subcutaneous adipose fat tissue (rs58220726). E) Expression in visceral adipose fat tissue in the omentum (rs615568).
C20orf141 is likely to have emerged 160 million years ago (MYA), as the most distant ortholog to humans is found in opossums.[30]
The protein sequence of c20orf141 has two predicted internal repeats.[9][31] However, only its second internal repeat at Met1-Gly55 and Asp73-Leu137 is conserved among orthologous sequences.[9]
1 2 Murphy EF, Hooiveld GJ, Muller M, Calogero RA, Cashman KD (2007). "Conjugated linoleic acid alters global gene expression in human intestinal-like Caco-2 cells in an isomer-specific manner". The Journal of Nutrition. 137 (11): 2359–2365. doi:10.1093/jn/137.11.2359. ISSN0022-3166. PMID17951470.
↑ Wang T, Lee HG (2015-04-16). "Advances in Research on cis-9, trans-11 Conjugated Linoleic Acid: A Major Functional Conjugated Linoleic Acid Isomer". Critical Reviews in Food Science and Nutrition. 55 (5): 720–731. doi:10.1080/10408398.2012.674071. ISSN1040-8398. PMID24915361.
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