Chromosome 21 open reading frame 91

Chromosome 21 open reading frame 91 is a protein that in humans is encoded by the C21orf91 gene. ^[5]

C21orf91
Identifiers
Aliases	C21orf91, C21orf14, C21orf38, CSSG1, EURL, YG81, chromosome 21 open reading frame 91
External IDs	MGI: 1196400; HomoloGene: 9696; GeneCards: C21orf91; OMA:C21orf91 - orthologs
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q21.1 Start 17,788,974 bp[1] End 17,819,386 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 C3.1|16 45.36 cM Start 78,337,226 bp[2] End 78,373,596 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm inferior ganglion of vagus nerve gingival epithelium palpebral conjunctiva skin of thigh corpus callosum parietal pleura endothelial cell skin of hip subthalamic nucleus Top expressed in spermatid hair follicle Rostral migratory stream seminiferous tubule retinal pigment epithelium lumbar subsegment of spinal cord spermatocyte ascending aorta aortic valve seminal vesicula More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 54149 67102 Ensembl ENSG00000154642 ENSMUSG00000022864 UniProt Q9NYK6 Q9D7G4 RefSeq (mRNA) NM_017447 NM_001100420 NM_001100421 NM_001252438 NM_001252439 NM_001252440 NM_025967 RefSeq (protein) NP_001093890 NP_001093891 NP_059143 NP_001239367 NP_001239368 NP_001239369 NP_080243 Location (UCSC) Chr 21: 17.79 – 17.82 Mb Chr 16: 78.34 – 78.37 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

EURL is a structural protein gene that is encoded within the human chromosome 21.^[6][7] It stands for gene Expressed in Undifferentiated Retina and Lens and was first found in chick embryos. It is also known as C21orf 91 (Chromosome 21 open reading frame 91).^[8] This gene produces many molecules; among them is a protein that influences neural development. This protein-coding region helps to code for neural development in humans and is strongly associated with neural progenitor cells as well as neurons associated with the cerebral cortex of the brain.^[6]

Thus, being on chromosome 21, defects linked to this gene are heavily correlated to Down Syndrome. There are some knockout models regarding other genes involved in Down Syndrome, but there seems to be primary interest in a knockdown model for this specific gene. It is believed that because there is three codes of this gene rather than two, that the higher concentration of this molecule has the implications leading to Down Syndrome. Scientists are currently working on a hypothesis that the dosage of the EURL protein is directly correlated to neural development in the embryo and how an altered dosage leads to the neural deficits seen in Down Syndrome.^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000154642 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022864 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Chromosome 21 open reading frame 91". Retrieved 2017-06-01.
6. Li SS, Qu Z, Haas M, Ngo L, Heo YJ, Kang HJ, et al. (July 2016). "The HSA21 gene EURL/C21ORF91 controls neurogenesis within the cerebral cortex and is implicated in the pathogenesis of Down Syndrome". Scientific Reports. 6: 29514. Bibcode:2016NatSR...629514L. doi:10.1038/srep29514. PMC 4941730. PMID 27404227.
7. Kirk IK, Weinhold N, Belling K, Skakkebæk NE, Jensen TS, Leffers H, et al. (March 2017). "Chromosome-wise Protein Interaction Patterns and Their Impact on Functional Implications of Large-Scale Genomic Aberrations". Cell Systems. 4 (3): 357–364.e3. doi:10.1016/j.cels.2017.01.001. PMID 28215527.
8. "C21orf91". Retrieved 14 April 2019.

Further reading

• Godbout R, Andison R, Katyal S, Bisgrove DA (July 2003). "Isolation of a novel cDNA enriched in the undifferentiated chick retina and lens". Developmental Dynamics. 227 (3): 409–15. doi:10.1002/dvdy.10310. PMID 12815627. S2CID 40129186.

External links

• "Tissue expression of C21orf91 - Summary". the Human Protein Atlas. Retrieved 14 April 2019.