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LY6/PLAUR Domain Containing 6B , also known under the name Cancer/Testis Antigen 116 (CTA116 ) and LYPD7 is encoded by the LYPD6B gene .[5] LYPD6B is a member of the lymphocyte antigen 6 (LY6) protein family. It is expressed in the testis , lungs , stomach and the prostate and in the nervous system where it acts as a modulator of nicotinic acetylcholine receptor activity.
Structure
The protein is 183 amino acids long and its molecular mass is 20.656.[6] The gene LYPD6B encoding the protein is located on chromosome 2 in humans.
Background
The protein was discovered for the first time in a 2009 study; its presence was detected in the cytoplasm and it was associated with activation of the AP-1 transcription factor .[7] LYPD6B is known as a prototoxin due to its structural similarity with the 3-fingered snake venom proteins α-bungarotoxin and cobratoxin .[8] As a prototoxin, LYPD6B also belongs to the protein family of Ly-6/urokinase plasminogen activator receptor (Ly6/uPAR). It has a 3-fingered motif secondary structure which appears due to the presence of 8–10 cysteine residues that facilitate disulfide bond formation.[8]
Role
The protein is expressed in the nervous system where it acts as an enhancer of the activity of the neurotransmitter acetylcholine certain α7-containing nicotinic acetylcholine receptors , which have a role in learning.[8] A duplication of the gene has been detected in a case study of two individuals with severe intellectual disability, suggesting its role in proper brain development and cognitive function .[9] Additionally, the protein demonstrates high expression in several other normal organs including the testis , lungs , stomach , and prostate .[10]
Hypermethylation of the gene and a subsequent decreased expression has been demonstrated as one of the contributors to the invasive capacity of cancer cells in melanoma .[11]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000150556 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026765 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Entrez Gene: LY6/PLAUR domain containing 6B" . NCBI . Retrieved 21 July 2020 .
^ "UniProt, Q8NI32" . Retrieved 23 July 2020 .
^ Ni J, Lang Q, Bai M, Zhong C, Chen X, Wan B, Yu L (April 2009). "Cloning and characterization of a human LYPD7, a new member of the Ly-6 superfamily". Molecular Biology Reports . 45 (11): 697–703. doi :10.1007/s11033-008-9231-6 .
^ a b c Ochoa V, George AA, Nishi R, Whiteaker P (March 2016). "The prototoxin LYPD6B modulates heteromeric α3β4-containing nicotinic acetylcholine receptors, but not α7 homomers" . FASEB Journal . 30 (3): 1109–19. doi :10.1096/fj.15-274548 . PMC 4750422 . PMID 26586467 . {{cite journal }}
: CS1 maint: unflagged free DOI (link )
^ Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, et al. (April 2012). "Severe intellectual disability and autistic features associated with microduplication 2q23.1" . European Journal of Human Genetics . 20 (4): 398–403. doi :10.1038/ejhg.2011.199 . PMC 3306850 . PMID 22085900 .
^ Kong HK, Park JH (November 2012). "Characterization and function of human Ly-6/uPAR molecules" . BMB Reports . 45 (11): 595–603. doi :10.5483/bmbrep.2012.45.11.210 . PMC 4133805 .
^ Koroknai V, Szász I, Hernandez-Vargas H, Fernandez-Jimenez N, Cuenin C, Herceg Z, et al. (January 2020). "DNA hypermethylation is associated with invasive phenotype of malignant melanoma". Experimental Dermatology . 29 (1): 39–50. doi :10.1111/exd.14047 . PMID 31602702 .