EVA1C

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EVA1C (Eva-1 Homolog C) is a transmembrane protein in humans ( Homo sapiens ) that is encoded by the EVA1C gene on Chromosome 21. The EVA1C protein is thought to be involved in herapin binding activity. In addition, the gene is thought to be associated with diseases such as X-Linked Intellectual Disability-Short Stature-Overweight Syndrome.

Contents

Bird's eye view of EVA1C gene in humans (Homo sapiens) using UCSC BLAT. The orange oval indicates the promoter and the green regions represent the 7 exons. Bird's Eye View of EVA1C Gene.png
Bird’s eye view of EVA1C gene in humans (Homo sapiens) using UCSC BLAT. The orange oval indicates the promoter and the green regions represent the 7 exons.

Gene

Aliases

B18, B19, C21orf63, C21orf64, FAM176C, PRED34, and SUE21 are aliases of the EVA1C gene. [2]

Locus

EVA1C is located on the plus strand of Chromosome 21 (21q22.11). [2] The span of the EVA1C gene is 103,394 bases (chr21:33,784,314-33,887,707). [2]

Conceptual translation of the EVA1C mRNA and protein sequences. Annotations are marked on both sequences. The specific annotations and what they represent can be found on the right-hand side of the translation. The pink amino acids represent a region that is highly conserved in EVA1C and its orthologs. Conceptual Translation of EVA1C.png
Conceptual translation of the EVA1C mRNA and protein sequences. Annotations are marked on both sequences. The specific annotations and what they represent can be found on the right-hand side of the translation. The pink amino acids represent a region that is highly conserved in EVA1C and its orthologs.

RNA

Isoforms

EVA1C has 9 isoforms with EVA1C isoform X1 being the longest. [3] This isoform is 441 amino acids in length. [3]

EVA1C expression in house mouse (Mus musculus) brain found using Allen Brain Atlas and Genepaint. (A) Sagittal slice of the brain. (B) Coronal slice of the brain. (C) Imaging of fetal house mouse. (D) Anatomy of fetal house mouse. The black circles represent where in the brain EVA1C is most highly expressed. EVA1C Expression in Mouse (Mus musculus ) Brain.png
EVA1C expression in house mouse (Mus musculus) brain found using Allen Brain Atlas and Genepaint. (A) Sagittal slice of the brain. (B) Coronal slice of the brain. (C) Imaging of fetal house mouse. (D) Anatomy of fetal house mouse. The black circles represent where in the brain EVA1C is most highly expressed.

Expression

EVA1C RNA is most highly expressed in the prostate, lungs, uterus, and heart. [3] It is also highly expressed in the human stomach at 20 weeks postnatal, whereas it is most highly expressed in the heart at 11 weeks postnatal. [3] Overall, it seems as though EVA1C RNA is most highly expressed in respiratory organs along with male and female reproductive organs. [3] EVA1C was found to be expressed at low levels in the brain. [3] However, using Allen Brain Atlas, EVA1C was found to be most highly expressed in the periaqueductal gray region of the midbrain in the house mouse (Mus musculus) brain. [6]

Snake-like plot of EVA1C with the wheel plot of transmembrane helices I and II found using PSORT II Prediction. Larger amino acids are closer to the C-terminus of the protein. Structure of EVA1C in the Membrane.png
Snake-like plot of EVA1C with the wheel plot of transmembrane helices I and II found using PSORT II Prediction. Larger amino acids are closer to the C-terminus of the protein.

Protein

Isoelectric point and molecular weight

The isoelectric point of the EVA1C protein in humans (Homo sapiens) is 6.5 pl and the molecular weight is 49 kDa. [8] When comparing to its paralogs, EVA1A and EVA1B, EVA1C had the highest molecular weight and isoelectric point. [8] This indicates that EVA1C is the largest protein.

Composition

The protein composition of EVA1C was found using EMBL-EBI SAPS. [9] EVA1C consists of all 20 amino acids; with cysteine (C) being present in high amounts. [9] The net charge of EVA1C was found to be lower than average. [9] EVA1C has a negative charge cluster from 369 to 389 amino acids, which is where the disordered region is located. [9] The transmembrane region was found to have a major hydrophobic region. [9]

Post-translational modifications of the EVA1C protein founding us Phosphosite. The legend at the bottom left of the figure indicates which color represents which modification. Post-translational modifications of the EVA1C protein.png
Post-translational modifications of the EVA1C protein founding us Phosphosite. The legend at the bottom left of the figure indicates which color represents which modification.

Regulation

EVA1C is predicted to have 6 post-translational modifications. [11] Glycosylation can be found on the first half of the protein, while phosphorylation and ubiquitylation can be found on the second half of the protein. [11] There are two of each type of post-translational modifications. [11]

Interacting proteins

EVA1C has been shown to interact with AMN1, USE1, SLITRK3, ROBO3, FLRT3, DONSON, and POFUT2. [12]

Homology

Ortholog sequences of EVA1C sorted by median date of divergence and sequence identity to human protein. The colors are used to group the species taxon. Ortholog Table of EVA1C.png
Ortholog sequences of EVA1C sorted by median date of divergence and sequence identity to human protein. The colors are used to group the species taxon.

Orthologs

The orthologs of EVA1C were found using NCBI Homologene and sorted by median date of divergence found using TimeTree and sequence identity to the human protein was found using the EMBOSS Needle Tool. [13] [14] [15] [16] The species that has the most distantly related EVA1C gene to humans is EVA1C in a cartilaginous fish called the thorny skate (Amblyraja radiata). [16] The sequence identity of this species with humans is 45%. Mammals had an identity range of 87.8-98.6%,  Aves had an identity range of 51.3-63.4%, Reptilia had an identity range of 55.1-62%, Amphibians had an identity range of 51.7-58%, and Bony Fish had an identity range of 40.3-41.3%. [15]

Ortholog sequences of EVA1A and EVA1B sorted by median date of divergence. The colors are used to group the species taxon. Orthlogos of EVA1C Paralogs Figure.png
Ortholog sequences of EVA1A and EVA1B sorted by median date of divergence. The colors are used to group the species taxon.

Paralogs

The paralogs of EVA1C are EVA1A (Eva-1 Homolog A) and EVA1B (Eva-1 Homolog B). [17] [18] The thorny skate (Amblyraja radiata) was found to be the most distant ortholog in EVA1A, EVA1B, and EVA1C. [14] [19] [20] The divergence time of humans and the thorny skate is 464 million years ago. [16]

Clinical significance

The EVA1C gene is located on the critical region of Down Syndrome in Chromosome 21. [21] This syndrome is the result of individuals having an extra copy of Chromosome 21. [21] Neurological and muscle impairments are experienced by individuals with a Down Syndrome diagnosis. [21] An experiment that studied orthologs of Chromosome 21 in roundworms (Caenorhabditis elegans) found that EVA1C was one of the orthologs that was required for neuromuscular behaviors. [21] The results of this experiment indicate that the EVA1C is a gene that underlies the phenotypes of Down Syndrome. [21]

Related Research Articles

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References

  1. ↑ "Human BLAT Search". genome.ucsc.edu. Retrieved 2022-12-16.
  2. 1 2 3 "EVA1C Gene - GeneCards | EVA1C Protein | EVA1C Antibody". www.genecards.org. Retrieved 2022-12-16.
  3. 1 2 3 4 5 6 "EVA1C eva-1 homolog C [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-12-16.
  4. ↑ "ISH Data :: Allen Brain Atlas: Mouse Brain". mouse.brain-map.org. Retrieved 2022-12-16.
  5. ↑ "Genepaint - Home of High Resolution Gene Expression Data". gp3.mpg.de. Retrieved 2022-12-16.
  6. ↑ "Gene Detail :: Allen Brain Atlas: Mouse Brain". mouse.brain-map.org. Retrieved 2022-12-16.
  7. ↑ "PSORT II Prediction". psort.hgc.jp. Retrieved 2022-12-16.
  8. 1 2 "Expasy - Compute pI/Mw tool". web.expasy.org. Retrieved 2022-12-16.
  9. 1 2 3 4 5 "SAPS < Sequence Statistics < EMBL-EBI". www.ebi.ac.uk. Retrieved 2022-12-16.
  10. ↑ "PhosphoSitePlus". www.phosphosite.org. Retrieved 2022-12-16.
  11. 1 2 3 "EVA1C (human)". www.phosphosite.org. Retrieved 2022-12-16.
  12. ↑ "26 items (human) - STRING interaction network". string-db.org. Retrieved 2022-12-16.
  13. ↑ "Home - HomoloGene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-12-16.
  14. 1 2 "EVA1C orthologs". NCBI. Retrieved 2022-12-16.
  15. 1 2 "EMBOSS Needle < Pairwise Sequence Alignment < EMBL-EBI". www.ebi.ac.uk. Retrieved 2022-12-16.
  16. 1 2 3 "TimeTree :: The Timescale of Life". www.timetree.org. Retrieved 2022-12-17.
  17. ↑ "EVA1A eva-1 homolog A, regulator of programmed cell death [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-12-16.
  18. ↑ "EVA1B eva-1 homolog B [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-12-16.
  19. ↑ "EVA1A orthologs". NCBI. Retrieved 2022-12-16.
  20. ↑ "EVA1B orthologs". NCBI. Retrieved 2022-12-17.
  21. 1 2 3 4 5 Nordquist, Sarah K.; Smith, Sofia R.; Pierce, Jonathan T. (2018-03-02). "Systematic Functional Characterization of Human 21st Chromosome Orthologs in Caenorhabditis elegans". G3. 8 (3): 967–979. doi:10.1534/g3.118.200019. ISSN   2160-1836. PMC   5844316 . PMID   29367452.
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