Homo sapiens Gene: CHRNA7
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
Protein Structure
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:32030488-32172521
Strand Forward strand
Band q13.3
Transcripts
ENST00000306901 ENSP00000303727
ENST00000454250 ENSP00000407546
ENST00000437966 ENSP00000399087
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.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001540 beta-amyloid binding
GO:0004889 acetylcholine-activated cation-selective channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0015464 acetylcholine receptor activity
GO:0015643 toxic substance binding
GO:0017081 chloride channel regulator activity
GO:0022848 acetylcholine-gated cation channel activity
GO:0042166 acetylcholine binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0000187 activation of MAPK activity
GO:0001666 response to hypoxia
GO:0006810 transport
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0007165 signal transduction
GO:0007268 synaptic transmission
GO:0007613 memory
GO:0008284 positive regulation of cell proliferation
GO:0032720 negative regulation of tumor necrosis factor production
GO:0034220 ion transmembrane transport
GO:0035094 response to nicotine
GO:0045766 positive regulation of angiogenesis
GO:0050890 cognition
Cellular Component
GO:0005886 plasma membrane
GO:0005892 acetylcholine-gated channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0045211 postsynaptic membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Wnt pathway
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
KEGG
Calcium signaling pathway pathway
Neuroactive ligand-receptor interaction pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.511772 Hs.629655 Hs.733533
RefSeq NM_000746 NM_001190455
HUGO
OMIM
CCDS CCDS10027 CCDS53924
HPRD 00339
IMGT
EMBL
GenPept
RNA Seq Atlas