Version 5.4
| Homo sapiens Gene: CHRNA7 | |||||||||||||||||||||||||||||||
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| Summary | |||||||||||||||||||||||||||||||
| InnateDB Gene | IDBG-5070.7 | ||||||||||||||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||
| Gene Symbol | CHRNA7 | ||||||||||||||||||||||||||||||
| Gene Name | cholinergic receptor, nicotinic, alpha 7 (neuronal) | ||||||||||||||||||||||||||||||
| Synonyms | CHRNA7-2; NACHRA7 | ||||||||||||||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||||||||||||||
| Ensembl Gene | ENSG00000175344 | ||||||||||||||||||||||||||||||
| Encoded Proteins |
cholinergic receptor, nicotinic, alpha 7
cholinergic receptor, nicotinic, alpha 7
cholinergic receptor, nicotinic, alpha 7
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||||||||||
| Summary |
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. [provided by RefSeq, Jul 2008] The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] |
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| Gene Information | |||||||||||||||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||||||||||||||
| Genomic Location | Chromosome 15:32030488-32172521 | ||||||||||||||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||||||||||||||
| Band | q13.3 | ||||||||||||||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||||||||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||||||||||||||
| NETPATH |
Wnt pathway
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| REACTOME |
Neuronal System pathway
Postsynaptic nicotinic acetylcholine receptors pathway
Activation of Nicotinic Acetylcholine Receptors pathway
Transmission across Chemical Synapses pathway
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors pathway
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
Acetylcholine Binding And Downstream Events pathway
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| KEGG |
Neuroactive ligand-receptor interaction pathway
Calcium signaling pathway pathway
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| INOH | |||||||||||||||||||||||||||||||
| PID NCI | |||||||||||||||||||||||||||||||
| Cross-References | |||||||||||||||||||||||||||||||
| SwissProt | P36544 | ||||||||||||||||||||||||||||||
| TrEMBL | Q693P7 | ||||||||||||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||||||||||||
| Entrez Gene | 89832 | ||||||||||||||||||||||||||||||
| UniGene | Hs.511772 Hs.629655 Hs.733533 | ||||||||||||||||||||||||||||||
| RefSeq | NM_000746 NM_001190455 | ||||||||||||||||||||||||||||||
| HUGO | HGNC:1960 | ||||||||||||||||||||||||||||||
| OMIM | 118511 609756 | ||||||||||||||||||||||||||||||
| CCDS | CCDS10027 CCDS53924 | ||||||||||||||||||||||||||||||
| HPRD | 00339 | ||||||||||||||||||||||||||||||
| IMGT | |||||||||||||||||||||||||||||||
| EMBL | AC004460 AC009562 AC012236 AC021316 AC026150 AC026951 AC058803 AC068448 AC079969 AC087481 AC090829 AC091057 AC104266 AC104759 AF332758 AF385585 AH013945 AK292069 AK294229 BC037571 BC101345 L25827 U40583 U62436 X70297 Y08420 Z23141 | ||||||||||||||||||||||||||||||
| GenPept | AAA83561 AAB40114 AAH37571 AAI01346 AAK19515 AAK68111 AAT81394 BAF84758 BAG57531 CAA49778 CAA69697 CAA80672 | ||||||||||||||||||||||||||||||
| RNA Seq Atlas | 1139 89832 | ||||||||||||||||||||||||||||||