CHRFAM7A

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 30,360,566 bp [1] End 30,393,849 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon monocyte ascending aorta bone marrow right lung thyroid gland smooth muscle tissue left lobe of thyroid gland right lobe of thyroid gland testicle n/a More reference expression data BioGPS n/a
Gene ontology Molecular function extracellular ligand-gated ion channel activity ion channel activity transmembrane signaling receptor activity acetylcholine receptor activity acetylcholine binding 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 plasma 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 positive regulation of cell population proliferation transport calcium ion transport memory negative regulation of tumor necrosis factor production response to nicotine regulation of postsynaptic membrane potential excitatory postsynaptic potential positive regulation of protein phosphorylation learning or memory short-term memory synapse organization sensory processing 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

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

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 P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S (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. S2CID   37412240.
• 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.