CHRFAM7A
| CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | CHRFAM7A ; CHRNA7; CHRNA7-DR1; D-10 | ||||||||||||
| External IDs | OMIM: 609756 GeneCards: CHRFAM7A Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 89832 | n/a | |||||||||||
| Ensembl | ENSG00000166664 | n/a | |||||||||||
| UniProt | P36544 | n/a | |||||||||||
| RefSeq (mRNA) | NM_139320 | n/a | |||||||||||
| RefSeq (protein) | NP_647536 | n/a | |||||||||||
| Location (UCSC) | Chr 15: 30.65 – 30.69 Mb | n/a | |||||||||||
| PubMed search | n/a | ||||||||||||
CHRNA7-FAM7A fusion protein is a protein that in humans is encoded by the CHRFAM7A gene.[1][2]
The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed.[2]
References
- ↑ Riley B, Williamson M, Collier D, Wilkie H, Makoff A (Feb 2002). "A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14". Genomics 79 (2): 197–209. doi:10.1006/geno.2002.6694. PMID 11829490.
- ↑ 2.0 2.1 "Entrez Gene: CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion".
Further reading
- Gault J; Robinson M; Berger R et al. (1998). "Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7)". Genomics 52 (2): 173–85. doi:10.1006/geno.1998.5363. PMID 9782083.
- Freedman R; Leonard S; Gault JM et al. (2001). "Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7)". Am. J. Med. Genet. 105 (1): 20–2. doi:10.1002/1096-8628(20010108)105:1<20::AID-AJMG1047>3.0.CO;2-C. PMID 11424985.
- Strausberg RL; Feingold EA; Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Trombino S; Cesario A; Margaritora S et al. (2004). "Alpha7-nicotinic acetylcholine receptors affect growth regulation of human mesothelioma cells: role of mitogen-activated protein kinase pathway". Cancer Res. 64 (1): 135–45. doi:10.1158/0008-5472.CAN-03-1672. PMID 14729617.
- Gerhard DS; Wagner L; Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Bale AS; Meacham CA; Benignus VA et al. (2005). "Volatile organic compounds inhibit human and rat neuronal nicotinic acetylcholine receptors expressed in Xenopus oocytes". Toxicol. Appl. Pharmacol. 205 (1): 77–88. doi:10.1016/j.taap.2004.09.011. PMID 15885267.
- Freedman R; Leonard S; Waldo M et al. (2006). "Characterization of allelic variants at chromosome 15q14 in schizophrenia". Genes, Brain and Behavior. 5 Suppl 1: 14–22. doi:10.1111/j.1601-183X.2006.00190.x. PMID 16417613.
- Zody MC; Garber M; Sharpe T et al. (2006). "Analysis of the DNA sequence and duplication history of human chromosome 15". Nature 440 (7084): 671–5. doi:10.1038/nature04601. PMID 16572171.
- Dempster EL; Toulopoulou T; McDonald C et al. (2006). "Episodic memory performance predicted by the 2bp deletion in exon 6 of the "alpha 7-like" nicotinic receptor subunit gene". The American Journal of Psychiatry 163 (10): 1832–4. doi:10.1176/appi.ajp.163.10.1832. PMID 17012698.
- Martin LF; Leonard S; Hall MH et al. (2007). "Sensory Gating and Alpha-7 Nicotinic Receptor Gene Allelic Variants in Schizoaffective Disorder, Bipolar Type". Am. J. Med. Genet. B Neuropsychiatr. Genet. 144 (5): 611–4. doi:10.1002/ajmg.b.30470. PMC 3123155. PMID 17192894.