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User:Emsarge15/sandbox

ERICH6 is a gene that encodes for the glutamate-rich 6 protein[1]. In humans, it is found in the 44th open reading frame of the 3rd chromosome[2]. ERICH6 is one of 6 currently found ERICH genes in the human genome (labeled ERICH1-ERICH6), however no linkage has been found in these genes besides their high concentration of glutamate[3].


Gene

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Locus

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ERICH6 is a protein-coding gene found on the reverse (-) strand of chromosome 3 at the locus 3q25.1, on the long arm of the chromosome[4]

Gene Neighborhood

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The SIAH2 gene is located upstream of ERICH6 on the third chromosome. Additionally, the SELENOT gene is located downstream.

Aliases

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ERICH6 is also known as c3orf44, FAM194A and ERICH6A.

Transcript

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mRNA

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ERICH6's mRNA transcript is 2021 nucleotides long. These nucleotides encode for a 663 amino acid protein. There are 14 exons and 13 introns, as well as two isoforms. Isoform 1 is the longer, with isoform 2 missing exon 1.

Protein

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This shows the predicted 3D Structure of ERICH6[5]
 
The image shows a schematic of ERICH6, including the two disordered regions and the highly conserved FAM194 region[6].

The protein encoded by ERICH6 is known as glutamate-rich 6 protein. The molecular weight of glutamate-rich 6 is about 75kD[7]. There are two disordered regions within the protein. The protein contains a FAM194 region, which is highly conserved.

Expression

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ERICH6 is expressed at low levels throughout the body[8]. The expression pattern of this protein is restricted to pre-meiotic germ cells, which suggests it could be implicated in cell division or DNA replication during the early stages of spermatogenesis[9].

Homology

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Paralogs

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There are two known paralogs of ERICH6. ERICH6B is located on Chromosome 13 while c3orf20 is on Chromosome 3.

Name Accesion Number Location in human genome Sequence similarity to ERICH6 E-value
ERICH6B NP_872348 c13 q14.13 32.6% 8.00E-20
c3orf20 AAH30599.1 c3 p25.1 29.93% 3.00E-12

Orthologs

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The table shows ERICH6 orthologs in various species, along with the conservation for each species.

ERICH6 was found to be conserved in all mammals, reptiles, fish and most invertebrates[10]. The most distance ortholog was found to evolve 758 million years ago[11]. It was not found in any arthropods.

Gene Evolution

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ERICH6 is relatively fast evolving. It has evolution values (corrected M) more similar to the quick evolving Fibrinogen alpha chain gene. It is quicker evolving than the Cytochrome c gene.

 
The image shows the rate of evolution of ERICH6 compared to Fibrinogen Alpha and Cytochrome C. One ortholog from each group on the table above was chosen to represent gene evolution.


 
The image above shows an annotated translation with the mRNA encoded and the amino acids translated by ERICH6




Clinical Significance

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ERICH6 as a lncRNA has a strong correlation with Immune cell infiltration[12]. Mutations in the 5’ UTR of ERICH6 (T to C switches) were found to cause tumor regression in Tasmanian Devils[13].






Citations

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  1. ^ "ERICH6 glutamate rich 6 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-10-20.
  2. ^ "glutamate-rich protein 6 isoform 1 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-10-20.
  3. ^ "ERICH6".
  4. ^ "Supplemental Information 3: Gene list of circadian rhythm-related genes obtained from GeneCards". dx.doi.org. Retrieved 2024-10-20.
  5. ^ "AlphaFold Protein Structure Database". alphafold.ebi.ac.uk. Retrieved 2024-12-11.
  6. ^ "DOG 2.0 - Protein Domain Structure Visualization". dog.biocuckoo.org. Retrieved 2024-12-11.
  7. ^ "SAPS Protein Analysis". www.ebi.ac.uk. Retrieved 2024-12-11.
  8. ^ Fagerberg, Linn; Hallström, Björn M.; Oksvold, Per; Kampf, Caroline; Djureinovic, Dijana; Odeberg, Jacob; Habuka, Masato; Tahmasebpoor, Simin; Danielsson, Angelika; Edlund, Karolina; Asplund, Anna; Sjöstedt, Evelina; Lundberg, Emma; Szigyarto, Cristina Al-Khalili; Skogs, Marie. "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics: MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. ISSN 1535-9484. PMC 3916642. PMID 24309898.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  9. ^ Pineau, Charles; Hikmet, Feria; Zhang, Cheng; Oksvold, Per; Chen, Shuqi; Fagerberg, Linn; Uhlén, Mathias; Lindskog, Cecilia (2019-12-06). "Cell Type-Specific Expression of Testis Elevated Genes Based on Transcriptomics and Antibody-Based Proteomics". Journal of Proteome Research. 18 (12): 4215–4230. doi:10.1021/acs.jproteome.9b00351. ISSN 1535-3893.
  10. ^ "BLAST: Basic Local Alignment Search Tool". blast.ncbi.nlm.nih.gov. Retrieved 2024-12-11.
  11. ^ "TimeTree :: The Timescale of Life". timetree.org. Retrieved 2024-12-11.
  12. ^ Liu, Jinhui. "Development of a novel immune-related lncRNA signature as a prognostic classifier for endometrial carcinoma". International Journal of Biological Sciences.
  13. ^ Margres, Mark J; Ruiz-Aravena, Manuel; Hamede, Rodrigo; Chawla, Kusum; Patton, Austin H; Lawrance, Matthew F; Fraik, Alexandra K; Stahlke, Amanda R; Davis, Brian W; Ostrander, Elaine A; Jones, Menna E; McCallum, Hamish; Paddison, Patrick J; Hohenlohe, Paul A; Hockenbery, David (2020-08-01). "Spontaneous Tumor Regression in Tasmanian Devils Associated with RASL11A Activation". Genetics. 215 (4): 1143–1152. doi:10.1534/genetics.120.303428. ISSN 1943-2631. PMC 7404226. PMID 32554701.{{cite journal}}: CS1 maint: PMC format (link)
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