# EVA1C

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{{Short description| Transmembrane protein in human}}

'''EVA1C''' ('''Eva-1 Homolog C''') is a [transmembrane protein](/source/transmembrane_protein) in humans (''[Homo sapiens](/source/Human)'') that is encoded by the EVA1C gene on [chromosome 21](/source/chromosome_21). The EVA1C protein is thought to be involved in [herapin](/source/Heparin) binding activity. In addition, the gene is thought to be associated with diseases such as [X-Linked Intellectual Disability](/source/X-linked_intellectual_disability)-Short Stature-Overweight Syndrome.
thumb|Bird’s eye view of EVA1C gene in humans (''Homo sapiens'') using UCSC BLAT.<ref>{{Cite web |title=Human BLAT Search |url=https://genome.ucsc.edu/cgi-bin/hgBlat |access-date=2022-12-16 |website=genome.ucsc.edu}}</ref> The orange oval indicates the promoter and the green regions represent the 7 exons.{{Citation needed|date=April 2024}}

== Gene ==

=== Aliases ===
B18, B19, C21orf63, C21orf64, FAM176C, PRED34, and SUE21 are aliases of the EVA1C gene.<ref name=":0">{{Cite web |title=EVA1C Gene - GeneCards {{!}} EVA1C Protein {{!}} EVA1C Antibody |url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=EVA1C |access-date=2022-12-16 |website=www.genecards.org}}</ref>

=== Locus ===
EVA1C is located on the plus strand of [chromosome 21](/source/chromosome_21) (21q22.11).<ref name=":0" /> The span of the EVA1C gene is 103,394 bases (chr21:33,784,314-33,887,707).<ref name=":0" />
thumb|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.{{Citation needed|date=April 2024}}

== RNA ==

=== Isoforms ===
EVA1C has 9 [isoforms](/source/Protein_isoform) with EVA1C isoform X1 being the longest.<ref name=":1">{{Cite web |title=EVA1C eva-1 homolog C [Homo sapiens (human)] - Gene - NCBI |url=https://www.ncbi.nlm.nih.gov/gene/59271 |access-date=2022-12-16 |website=www.ncbi.nlm.nih.gov}}</ref> This isoform is 441 [amino acid](/source/amino_acid)s in length.<ref name=":1" />
thumb|EVA1C expression in house mouse (''Mus musculus'') brain found using Allen Brain Atlas and Genepaint.<ref>{{Cite web |title=ISH Data :: Allen Brain Atlas: Mouse Brain |url=https://mouse.brain-map.org/ |access-date=2022-12-16 |website=mouse.brain-map.org}}</ref><ref>{{Cite web |title=Genepaint - Home of High Resolution Gene Expression Data |url=https://gp3.mpg.de/ |access-date=2022-12-16 |website=gp3.mpg.de}}</ref> (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.{{Citation needed|date=April 2024}}

=== Expression ===
EVA1C [RNA](/source/RNA) is most highly expressed in the prostate, lungs, uterus, and heart.<ref name=":1" /> 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.<ref name=":1" /> Overall, it seems as though EVA1C RNA is most highly expressed in respiratory organs along with male and female reproductive organs.<ref name=":1" /> EVA1C was found to be expressed at low levels in the brain.<ref name=":1" /> However, using Allen Brain Atlas, EVA1C was found to be most highly expressed in the [periaqueductal gray](/source/periaqueductal_gray) region of the midbrain in the house mouse (''Mus musculus'') brain.<ref>{{Cite web |title=Gene Detail :: Allen Brain Atlas: Mouse Brain |url=https://mouse.brain-map.org/gene/show/46808 |access-date=2022-12-16 |website=mouse.brain-map.org}}</ref>
thumb|Snake-like plot of EVA1C with the wheel plot of transmembrane helices I and II found using PSORT II Prediction.<ref>{{Cite web |title=PSORT II Prediction |url=https://psort.hgc.jp/form2.html |access-date=2022-12-16 |website=psort.hgc.jp}}</ref> Larger amino acids are closer to the C-terminus of the protein.{{Citation needed|date=April 2024}}

== Protein ==

=== Isoelectric point and molecular weight ===
The [isoelectric point](/source/isoelectric_point) of the EVA1C protein in humans (''Homo sapiens'') is 6.5 pl and the [molecular weight](/source/Molecular_mass) is 49 kDa.<ref name=":2">{{Cite web |title=Expasy - Compute pI/Mw tool |url=https://web.expasy.org/compute_pi/ |access-date=2022-12-16 |website=web.expasy.org}}</ref> When comparing to its paralogs, [EVA1A](/source/EVA1A) and EVA1B, EVA1C had the highest molecular weight and isoelectric point.<ref name=":2" /> This indicates that EVA1C is the largest protein.

=== Composition ===
The protein composition of EVA1C was found using EMBL-EBI SAPS.<ref name=":3">{{Cite web |title=SAPS < Sequence Statistics < EMBL-EBI |url=https://www.ebi.ac.uk/Tools/seqstats/saps/ |access-date=2022-12-16 |website=www.ebi.ac.uk}}</ref> EVA1C consists of all 20 amino acids; with cysteine (C) being present in high amounts.<ref name=":3" /> The net charge of EVA1C was found to be lower than average.<ref name=":3" /> EVA1C has a negative charge cluster from 369 to 389 amino acids, which is where the disordered region is located.<ref name=":3" /> The transmembrane region was found to have a major [hydrophobic](/source/hydrophobic) region.<ref name=":3" />
thumb|Post-translational modifications of the EVA1C protein founding us Phosphosite.<ref>{{Cite web |title=PhosphoSitePlus |url=https://www.phosphosite.org/homeAction.action |access-date=2022-12-16 |website=www.phosphosite.org}}</ref> The legend at the bottom left of the figure indicates which color represents which modification.{{Citation needed|date=April 2024}}

=== Regulation ===
EVA1C is predicted to have 6 [post-translational modification](/source/post-translational_modification)s.<ref name=":4">{{Cite web |title=EVA1C (human) |url=https://www.phosphosite.org/proteinAction.action?id=19258&showAllSites=true |access-date=2022-12-16 |website=www.phosphosite.org}}</ref> [Glycosylation](/source/Glycosylation) can be found on the first half of the protein, while [phosphorylation](/source/phosphorylation) and [ubiquitylation](/source/Ubiquitin) can be found on the second half of the protein.<ref name=":4" /> There are two of each type of post-translational modifications.<ref name=":4" />

=== Interacting proteins ===
EVA1C has been shown to interact with AMN1, [USE1](/source/USE1), SLITRK3, [ROBO3](/source/ROBO3), [FLRT3](/source/FLRT3), DONSON, and [POFUT2](/source/GDP-fucose_protein_O-fucosyltransferase_2).<ref>{{Cite web |title=26 items (human) - STRING interaction network |url=https://string-db.org/cgi/network?taskId=bLdMxEzIWUoT&sessionId=b15hjUij5WQq |access-date=2022-12-16 |website=string-db.org}}</ref>

== Homology ==
thumb|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.{{Citation needed|date=April 2024}}

=== Orthologs ===
The [orthologs](/source/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.<ref>{{Cite web |title=Home - HomoloGene - NCBI |url=https://www.ncbi.nlm.nih.gov/homologene |archive-url=https://web.archive.org/web/20010615233839/http://www.ncbi.nlm.nih.gov/HomoloGene/ |url-status=dead |archive-date=June 15, 2001 |access-date=2022-12-16 |website=www.ncbi.nlm.nih.gov}}</ref><ref name=":6">{{Cite web |title=EVA1C orthologs |url=https://www.ncbi.nlm.nih.gov/gene/59271/ortholog/ |access-date=2022-12-16 |website=NCBI |language=en}}</ref><ref name=":5">{{Cite web |title=EMBOSS Needle < Pairwise Sequence Alignment < EMBL-EBI |url=https://www.ebi.ac.uk/Tools/psa/emboss_needle/ |access-date=2022-12-16 |website=www.ebi.ac.uk}}</ref><ref name=":7">{{Cite web |title=TimeTree :: The Timescale of Life |url=http://www.timetree.org |access-date=2022-12-17 |website=www.timetree.org |language=en}}</ref> The species that has the most distantly related EVA1C gene to humans is EVA1C in a [cartilaginous fish](/source/Chondrichthyes) called the [thorny skate](/source/thorny_skate) (''Amblyraja radiata).<ref name=":7" />'' 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](/source/Reptile) had an identity range of 55.1-62%, [Amphibian](/source/Amphibian)s had an identity range of 51.7-58%, and Bony Fish had an identity range of 40.3-41.3%.<ref name=":5" />
thumb|Ortholog sequences of EVA1A and EVA1B sorted by median date of divergence. The colors are used to group the species taxon.{{Citation needed|date=April 2024}}

=== Paralogs ===
The paralogs of EVA1C are EVA1A (Eva-1 Homolog A) and EVA1B (Eva-1 Homolog B).<ref>{{Cite web |title=EVA1A eva-1 homolog A, regulator of programmed cell death [Homo sapiens (human)] - Gene - NCBI |url=https://www.ncbi.nlm.nih.gov/gene/84141 |access-date=2022-12-16 |website=www.ncbi.nlm.nih.gov}}</ref><ref>{{Cite web |title=EVA1B eva-1 homolog B [Homo sapiens (human)] - Gene - NCBI |url=https://www.ncbi.nlm.nih.gov/gene/55194 |access-date=2022-12-16 |website=www.ncbi.nlm.nih.gov}}</ref> The thorny skate (''Amblyraja radiata'') was found to be the most distant ortholog in EVA1A, EVA1B, and EVA1C.<ref name=":6" /><ref>{{Cite web |title=EVA1A orthologs |url=https://www.ncbi.nlm.nih.gov/gene/84141/ortholog/ |access-date=2022-12-16 |website=NCBI |language=en}}</ref><ref>{{Cite web |title=EVA1B orthologs |url=https://www.ncbi.nlm.nih.gov/gene/55194/ortholog/ |access-date=2022-12-17 |website=NCBI |language=en}}</ref> The divergence time of humans and the thorny skate is 464 million years ago.<ref name=":7" />

== Clinical significance ==
The EVA1C gene is located on the critical region of [Down syndrome](/source/Down_syndrome) on chromosome 21.<ref name=":8">{{Cite journal |last1=Nordquist |first1=Sarah K. |last2=Smith |first2=Sofia R. |last3=Pierce |first3=Jonathan T. |date=2018-03-02 |title=Systematic Functional Characterization of Human 21st Chromosome Orthologs in Caenorhabditis elegans |journal=G3 |volume=8 |issue=3 |pages=967–979 |doi=10.1534/g3.118.200019 |issn=2160-1836 |pmc=5844316 |pmid=29367452}}</ref> This syndrome is the result of individuals having an extra copy of chromosome 21.<ref name=":8" /> Neurological and muscle impairments are experienced by people with Down syndrome.<ref name=":8" /> An experiment that studied orthologs of chromosome 21 in [roundworms](/source/Nematode) (''Caenorhabditis elegans'') found that EVA1C was one of the orthologs that was required for neuromuscular behaviors.<ref name=":8" /> The results of this experiment indicate that the EVA1C is a gene that underlies the phenotypes of Down syndrome.<ref name=":8" />

== References ==

{{reflist}}

Category:Transmembrane proteins

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Adapted from the Wikipedia article [EVA1C](https://en.wikipedia.org/wiki/EVA1C) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/EVA1C?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.