Draft:C22orf17
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The Human gene C22orf17 (Chromosome 22, Open Reading Frame 17)is a protein coding gene encoding protein Shisa-8. The Shisa-8 protein is predicted to interact with alpha-amino-3-hydroxy-5-methyl-4-isooxazole-propionic acid (AMPA) receptors and is predicted to be apart of the complex.[1] AMPA receptors are predicted to have effects on learning, memory, and gating properties in neurons.[2][3]
Aliases
[edit]the gene C22orf17 has multiple aliases, including Shisa-8, CTA-250D10.17, and Putative Protein Shisa-8.[4]
Gene
[edit]Locus
The genetic location of the C22orf17 gene lies between two enhancer sequences being GH22J041907 and GH22J041912 respectively and is found from 41,909,533 to 41,915,053 spanning 5,532 base pairs. Specifically, C22orf17 is located on the minus (-) strand of Chromosome 22 at cytogenetic band q13.2.[5]
Exons
C22orf17 has a total of 4 exons and 3 introns and spans approximately 5,532 base pairs. all of the introns are gt-ag.[6]
RNA
Expression of the C22orf17 gene was noted in the cerebellum, olfactory bulb, and adrenal gland with little to no expression in other areas of the brain.[7][8] One study showed that EST clones of similar sequences in brain and colon tumors and in lymphoma libraries were discovered, showing an association with cancer.[9]
Protein
[edit]Structure
Shisa-8 is a membrane bound protein enriched with AMPA receptors that has 4 isoforms.[10]It is a class of transporters only found in the membrane currently.[11] The protein is comprised of several regions including a N-terminus cysteine rich region extracellular domain, a transmembrane region, C-terminus region with a proline rich region and a PDZ II domain. This cysteine rich region is highly conserved, showing its importance in interacting with AMPA receptors. The PDZ region also allows this protein to interact with other PDZ containing proteins.[12] It also contains a Wnt and FGF signaling domain critical for brain development or neurotransmitter regulation.[13],[14]
Isoforms
C22orf17 has 4 isoforms being isoform 1,2,3 and X1. Exon 1,2, and 4 are all the same length and location in each isoform, with Exon 3 being different in each one. The longest of these isoforms is isoform 1 producing a protein that is a total of 492 amino acids.[15]
Molecular weight and Amino Acid Length
Protein Isoform 1 has a molecular weight of 47.5 kDa and an Amino Acid length of 492. Protein Isoform 2 has a molecular weight of 43.9 kDa and an Amino Acid length of 456. Protein Isoform 3 has a molecular weight of 38.6 kDa and an Amino Acid length of 397. Protein Isoform X1 has a molecular weight of 47.3 kDa and an Amino Acid length of 452.[16]
References
[edit]- ^ NCBI:C22orf17 gene. "NCBI". Retrieved 29 September 2024.
- ^ An integrated multi-omics analysis identifies novel regulators of circadian rhythm and sleep disruptions induced by changed photoperiod in Antarctica. "Research Square". Retrieved 29 September 2024.
- ^ Auxiliary subunits of the AMPA receptor: The Shisa family of proteins. "Science Direct". Retrieved 29 September 2024.
- ^ GeneCards:Shisa8 gene. "GeneCards". Retrieved 29 September 2024.
- ^ GeneCards:Shisa8 gene. "GeneCards". Retrieved 29 September 2024.
- ^ NCBI:Shisa8 Page. "NCBI". Retrieved 29 September 2024.
- ^ GeneCards:Shisa8 gene. "GeneCards". Retrieved 29 September 2024.
- ^ Auxiliary subunits of the AMPA receptor: The Shisa family of proteins. "Science Direct". Retrieved 29 September 2024.
- ^ Tnfrsf13c (Baffr) Is Mis-Expressed in Tumors with Murine Leukemia Virus Insertions at Lvis22. "Science Direct". Retrieved 29 September 2024.
- ^ NCBI:Shisa8 Page. "NCBI". Retrieved 29 September 2024.
- ^ Human Protein Atlas:Shisa-8. "Human Protein Atlas". Retrieved 29 September 2024.
- ^ AMPA Receptor Auxiliary Proteins of the CKAMP Family "International Journal of Molecular Sciences". Retrieved 29 September 2024.
- ^ Transcriptional Analysis of Apoptotic Cerebellar Granule Neurons Following Rescue by Gastric Inhibitory Polypeptide. "International Journal of Molecular Sciences". Retrieved 29 September 2024.
- ^ Spontaneous Development of Alzheimer's Disease‐associated Brain Pathology in a Shugoshin‐1 Mouse Cohesinopathy Model "Aging Cell". Retrieved 29 September 2024.
- ^ NCBI:Shisa8 Page. "NCBI". Retrieved 29 September 2024.
- ^ NCBI:Shisa8 Page. "NCBI". Retrieved 29 September 2024.