Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	CHRM1
Approved Name	cholinergic receptor, muscarinic 1
Name Alias	acetylcholine receptor, muscarinic 1
Location	11q12-q13
Position	chr11:62908679-62921807, -1
External Links	HGNC: 1950 Entrez Gene: 1128 Ensembl: ENSG00000168539 UCSC: uc001nwi.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Shi, J., 2007	SNP: rs1938677, rs2507821, rs4963323	no evidence of interaction among these 19 cholinergic genes was found by Allelic Association, Haploview Tests, FITF analysis and FDR correction	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 32)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0005887	integral component of plasma membrane	cellular component	IEA	158
GO:0016020	membrane	cellular component	TAS[7925360]	137
GO:0045202	synapse	cellular component	IBA	29
GO:0007399	nervous system development	biological process	TAS[2739737]	40
GO:0005886	plasma membrane	cellular component	TAS	360

GO terms by database search (count: 26)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043679	axon terminus	cellular component	IEA	8
GO:0008283	cell proliferation	biological process	TAS[1905013]	37
GO:0008284	positive regulation of cell proliferation	biological process	TAS[2739737]	44
GO:0004435	phosphatidylinositol phospholipase C activity	molecular function	TAS[9614217]	8
GO:0030425	dendrite	cellular component	IEA	65
GO:0007271	synaptic transmission, cholinergic	biological process	IBA	14
GO:0030054	cell junction	cellular component	IEA	88
GO:0043270	positive regulation of ion transport	biological process	IGI[14657398]	1
GO:0050890	cognition	biological process	IEA	11
GO:0007186	G-protein coupled receptor signaling pathway	biological process	TAS[7925360]	64
GO:0007606	sensory perception of chemical stimulus	biological process	IBA	14
GO:0046541	saliva secretion	biological process	IEA	2
GO:0007197	adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway	biological process	IBA	5
GO:0040012	regulation of locomotion	biological process	IEA	3
GO:0016907	G-protein coupled acetylcholine receptor activity	molecular function	IEA	5
GO:0010579	positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway	biological process	IBA	16
GO:0090316	positive regulation of intracellular protein transport	biological process	IEA	3
GO:0032279	asymmetric synapse	cellular component	IEA	3
GO:0007274	neuromuscular synaptic transmission	biological process	IEA	5
GO:0014069	postsynaptic density	cellular component	IEA	26
GO:0007205	protein kinase C-activating G-protein coupled receptor signaling pathway	biological process	TAS[9603968]	7
GO:0007207	phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway	biological process	TAS[8139539]	5
GO:0007213	G-protein coupled acetylcholine receptor signaling pathway	biological process	TAS[8139539]	6
GO:0007165	signal transduction	biological process	TAS[3443095]	136
GO:0008144	drug binding	molecular function	IEA	21
GO:0006464	cellular protein modification process	biological process	TAS[1411529]	7

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92
hsa04810	Regulation of actin cytoskeleton	24

Gene related BioCarta pathways (count: 4)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 4)

ID	Name	No. of Genes in BDgene
botulinPathway	Blockade of Neurotransmitter Relase by Botulinum Toxin	4
agrPathway	Agrin in Postsynaptic Differentiation	8
no1Pathway	Actions of Nitric Oxide in the Heart	9
tubbyPathway	G-Protein Signaling Through Tubby Proteins	2

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CHRM1	GPRASP2	NO	in vitro	15086532
CHRM1	GNAI2	YES	in vivo	8190105
CHRM1	GPRASP1	NO	in vitro	15452121

Related other genetic factors

Gene related SNPs (count: 3)

Literature-origin SNPs (count: 3)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4963323	chr11:62907131 - 62907131(1)	downstream_gene_variant; upstream_gene_variant	1(0/1/0)
rs2507821	chr11:62899134 - 62899134(1)		1(0/1/0)
rs1938677	chr11:62929479 - 62929479(1)		1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 11	chr11:0-135086622	2 (0/2/0)
11q14.3-11q21	chr11:22000000-97400000	1 (0/0/1)
11p13-q13.3	chr11:31000000-70500000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
14504414	91	Negative

Gene relationship with MDD

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Region: chr11:62908679..62921807 View in gBrowse