C20orf141

C20orf141
Identifiers
AliasesC20orf141, dJ860F19.4, chromosome 20 open reading frame 141
External IDsMGI: 1922906; HomoloGene: 50959; GeneCards: C20orf141; OMA:C20orf141 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

128653

75656

Ensembl

ENSG00000258713

ENSMUSG00000027409

UniProt

Q9NUB4

Q9DA59

RefSeq (mRNA)

NM_080739
NM_001256538

NM_001163483
NM_029375

RefSeq (protein)

NP_001243467
NP_542777

NP_001156955
NP_083651

Location (UCSC)Chr 20: 2.81 – 2.82 MbChr 2: 130.25 – 130.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Gene

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.[14][15][16]

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 c20orf141 transcript variant 1.
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.[27] 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).

All known expression quantitative trait loci (eQTLs) of c20orf141 are found downstream of the 3' untranslated region (UTR).[27] In subcutaneous and visceral (omentum) adipose tissue, homozygous genotypes have lower expression, while alternative allele genotypes have the highest.[27] Similarly, the homozygous genotype in fibroblast cells has the lowest expression. [27]

Clinical significance

Human c20orf141 is upregulated in clear cell renal cell carcinoma (ccRCC).[28] Human c20orf141 is downregulated in the sigmoid colon's mucosa (inner lining) in irritable bowel syndrome. [29]

Evolution

Unrooted phylogenetic tree of c20orf141 among clade Mammalia.

C20orf141 orthologs are found only in mammals, specifically in the infraclasses metatheria and eutheria.[8] Orthologs of c20orf141 are specifically found in Primata, Rodentia, Artiodactyla, Perissodactyla, Talpidae, Chiroptera, and Carnivora.[10] Within eutheria, c20orf141 orthlogs are only found in opposums.[10] C20orf141 has no known paralogs.[10]

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]

Genus Common Name Taxon Date of Divergence (MYA) Accession Number Sequence Number (AA) Sequence Identity % Sequence Similarity %
Homo sapiens Humans Primates 0.0 NP_542777.1 165 100.0 100.0
Pan troglodytes Chimpanzee Primates 6.4 XP_001159993.1 165 98.2 98.8
Nycticebus coucang Sunda slow loris Primates 74.0 XP_053430470.1 165 77.2 82.0
Urocitellus parryii Arctic squirrel Rodentia 87.0 XP_026265484.1 167 73.7 80.8
Castor canadensis American beaver Rodentia 87.0 XP_020029419.2 261 71.4 76.8
Perognathus longimembris Pocket mouse Rodentia 87.0 XP_048205328.1 164 69.2 74.8
Ochotona princeps American pika Rodentia 87.0 XP_004585728.2 165 69.5 76.7
Mus musculus House mice Rodentia 87.0 NP_001156955.1 131 64.6 73.2
Talpa occidentalis Iberian mole Eulipotyphla 94.0 XP_037377215.1 167 72.7 76.4
Pteropus vampyrus Flying fox bat Chiroptera 94.0 XP_011367784.1 167 73.6 77.8
Miniopterus natalensis Natal bat Chiroptera 94.0 XP_016071282.1 173 68.8 74.6
Felis catus Domestic cat Carnivora 94.0 XP_003983796.2 167 71.1 78.3
Neogale vison American mink Carnivora 94.0 XP_044118321.1 167 70.1 76.0
Vulpes vulpes Red fox Carnivora 94.0 XP_025868051.1 168 69.0 75.6
Eschrichtius robustus Grey whale Whippomorpha 94.0 XP_068381043.1 165 75.3 80.1
Hippopotamus amphibius Hippo Whippomorpha 94.0 XP_057557119.1 167 72.5 77.3
Lipotes vexillifer Baiji Dolphin Whippomorpha 94.0 XP_007465451.1 172 71.5 77.9
Equus asinus Donkey Perissodactyla 94.0 XP_014717342.1 167 75.5 78.4
Cervus canadensis Elk Cervidae 94.0 XP_043336499.1 163 75.0 80.5
Oryx dammah Scimitar oryx Bovidae 94.0 XP_040103245.1 165 74.7 80.7
Diceros bicornis minor Black Rhino Perissodactyla 94.0 KAF5924871.1 164 74.2 74.1
Bos taurus Domestic cattle Bovidae 94.0 XP_002692279.2 165 73.5 79.5
Gracilinanus agilis Mouse Opossum Marsupialia 160.0 XP_044537729.1 188 38.2 50.9
Monodelphis domestica Gray Opossum Marsupialia 160.0 XP_007497002.2 239 36.6 50.0

References

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  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027409 – Ensembl, May 2017
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