CHRFAM7A

CHRNA7-FAM7A fusion protein is a protein that in humans is encoded by the CHRFAM7A gene.[3][4]

CHRFAM7A
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 5AFK, 5AFJ, 5AFL, 2MAW, 5AFN, 5AFM, 5AFH
Identifiers
Aliases	CHRFAM7A, CHRNA7, CHRNA7-DR1, D-10, CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion, NACHRA7
External IDs	OMIM: 609756 GeneCards: CHRFAM7A
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q13.2 Start 30,357,766 bp[1] End 30,393,849 bp[1]
Gene ontology Molecular function • extracellular ligand-gated ion channel activity • ion channel activity • transmembrane signaling receptor activity • acetylcholine receptor activity • acetylcholine binding • GO:0001948 protein binding • protein homodimerization activity • acetylcholine-gated cation-selective channel activity • amyloid-beta binding • chloride channel regulator activity • toxic substance binding • ligand-gated ion channel activity • calcium channel activity Cellular component • integral component of membrane • membrane • integral component of plasma membrane • acetylcholine-gated channel complex • neuron projection • synapse • postsynaptic membrane • cell membrane • cell junction • plasma membrane raft • postsynapse Biological process • ion transmembrane transport • ion transport • signal transduction • chemical synaptic transmission • synaptic transmission, cholinergic • regulation of membrane potential • nervous system process • response to hypoxia • cognition • cellular calcium ion homeostasis • positive regulation of angiogenesis • activation of MAPK activity • positive regulation of cell proliferation • transport • calcium ion transport • memory • negative regulation of tumor necrosis factor production • response to nicotine • postsynaptic potential • excitatory postsynaptic potential • positive regulation of protein phosphorylation • learning or memory • short-term memory • synapse organization • sensory processing • positive regulation of protein metabolic process • positive regulation of ERK1 and ERK2 cascade • calcium ion transmembrane transport • acetylcholine receptor signaling pathway • dendritic spine organization • modulation of excitatory postsynaptic potential • dendrite arborization • positive regulation of long-term synaptic potentiation • regulation of neuron death • positive regulation of amyloid-beta formation • negative regulation of amyloid-beta formation • regulation of amyloid precursor protein catabolic process • response to amyloid-beta • response to acetylcholine • regulation of amyloid fibril formation • positive regulation of CoA-transferase activity • positive regulation of excitatory postsynaptic potential Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	89832	n/a
Ensembl	ENSG00000275917 ENSG00000166664	n/a
UniProt	Q494W8 P36544	n/a
RefSeq (mRNA)	NM_139320 NM_148911	n/a
RefSeq (protein)	NP_647536 NP_683709 NP_000737 NP_001177384	n/a
Location (UCSC)	Chr 15: 30.36 – 30.39 Mb	n/a
PubMed search	[2]	n/a
Wikidata
View/Edit Human

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.[4] CHRFAM7A has not been found in nonhuman primates, and its occurrence in individuals of African descent is significantly lower than in Caucasian populations.[5]

References

1. ENSG00000166664 GRCh38: Ensembl release 89: ENSG00000275917, ENSG00000166664 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. 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.
4. "Entrez Gene: CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion".
5. Szafranski, Przemyslaw; Schaaf, Christian P.; Person, Richard E.; Gibson, Ian B.; Xia, Zhilian; Mahadevan, Sangeetha; Wiszniewska, Joanna; Bacino, Carlos A.; Lalani, Seema (2010-07-01). "Structures and Molecular Mechanisms for Common 15q13.3 Microduplications Involving CHRNA7: Benign or Pathological?". Human Mutation. 31 (7): 840–850. doi:10.1002/humu.21284. ISSN 1059-7794. PMC 3162316. PMID 20506139.

External links

• Human CHRFAM7A genome location and CHRFAM7A gene details page in the UCSC Genome Browser.
• Human CHRNA7 genome location and CHRNA7 gene details page in the UCSC Genome Browser.

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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2006Natur.440..671Z. 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.