Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1128
Gene name	Cholinergic receptor muscarinic 1
Gene symbol	CHRM1
Synonyms (NCBI Gene)	HM1M1M1R
Chromosome	11
Chromosome location	11q12.3
Summary	The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, pho

Show/Hide all (48)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007151	hsa-miR-107	Luciferase reporter assay	23423139
MIRT891610	hsa-miR-1197	CLIP-seq
MIRT891611	hsa-miR-127-3p	CLIP-seq
MIRT891612	hsa-miR-3064-5p	CLIP-seq
MIRT891613	hsa-miR-3652	CLIP-seq
MIRT891614	hsa-miR-370	CLIP-seq
MIRT891615	hsa-miR-3925-5p	CLIP-seq
MIRT891616	hsa-miR-3940-3p	CLIP-seq
MIRT891617	hsa-miR-4430	CLIP-seq
MIRT891618	hsa-miR-4436a	CLIP-seq
MIRT891619	hsa-miR-4505	CLIP-seq
MIRT891620	hsa-miR-4532	CLIP-seq
MIRT891621	hsa-miR-4640-5p	CLIP-seq
MIRT891622	hsa-miR-4650-5p	CLIP-seq
MIRT891623	hsa-miR-4726-5p	CLIP-seq
MIRT891624	hsa-miR-4755-3p	CLIP-seq
MIRT891625	hsa-miR-589	CLIP-seq
MIRT891611	hsa-miR-127-3p	CLIP-seq
MIRT891616	hsa-miR-3940-3p	CLIP-seq
MIRT891620	hsa-miR-4532	CLIP-seq
MIRT891611	hsa-miR-127-3p	CLIP-seq
MIRT1964263	hsa-miR-149	CLIP-seq
MIRT1964264	hsa-miR-1915	CLIP-seq
MIRT891613	hsa-miR-3652	CLIP-seq
MIRT891616	hsa-miR-3940-3p	CLIP-seq
MIRT891617	hsa-miR-4430	CLIP-seq
MIRT891620	hsa-miR-4532	CLIP-seq
MIRT1964265	hsa-miR-628-5p	CLIP-seq
MIRT891611	hsa-miR-127-3p	CLIP-seq
MIRT891616	hsa-miR-3940-3p	CLIP-seq
MIRT891620	hsa-miR-4532	CLIP-seq
MIRT2386043	hsa-miR-1207-5p	CLIP-seq
MIRT891611	hsa-miR-127-3p	CLIP-seq
MIRT2386044	hsa-miR-1909	CLIP-seq
MIRT2386045	hsa-miR-3188	CLIP-seq
MIRT2386046	hsa-miR-326	CLIP-seq
MIRT2386047	hsa-miR-330-5p	CLIP-seq
MIRT891616	hsa-miR-3940-3p	CLIP-seq
MIRT891620	hsa-miR-4532	CLIP-seq
MIRT2386048	hsa-miR-4667-5p	CLIP-seq
MIRT2386049	hsa-miR-4700-5p	CLIP-seq
MIRT2386050	hsa-miR-4763-3p	CLIP-seq
MIRT2386051	hsa-miR-486-3p	CLIP-seq
MIRT2386052	hsa-miR-637	CLIP-seq
MIRT2386053	hsa-miR-942	CLIP-seq
MIRT2503220	hsa-miR-1289	CLIP-seq
MIRT891616	hsa-miR-3940-3p	CLIP-seq
MIRT2503221	hsa-miR-4470	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IEA
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	TAS	9614217
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	21056967
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7925360, 8508928
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	1411529, 3443095, 9614217
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	7925360
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA
GO:0007197	Process	Adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway	IBA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	TAS	9603968
GO:0007207	Process	Phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	TAS	8139539
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	IEA
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	TAS	8139539
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007274	Process	Neuromuscular synaptic transmission	IEA
GO:0007399	Process	Nervous system development	TAS	2739737
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7925360
GO:0016907	Function	G protein-coupled acetylcholine receptor activity	IBA
GO:0016907	Function	G protein-coupled acetylcholine receptor activity	IEA
GO:0016907	Function	G protein-coupled acetylcholine receptor activity	TAS	9614217
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0032279	Component	Asymmetric synapse	IEA
GO:0040012	Process	Regulation of locomotion	IEA
GO:0040012	Process	Regulation of locomotion	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0043270	Process	Positive regulation of monoatomic ion transport	IGI	14657398
GO:0043679	Component	Axon terminus	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046541	Process	Saliva secretion	IEA
GO:0050890	Process	Cognition	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060251	Process	Regulation of glial cell proliferation	TAS	2739737
GO:0090316	Process	Positive regulation of intracellular protein transport	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098981	Component	Cholinergic synapse	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA

MIM	HGNC	e!Ensembl
118510	1950	ENSG00000168539

P11229

Protein name

Muscarinic acetylcholine receptor M1

Protein function

The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effec

PDB

5CXV , 6OIJ , 6WJC , 6ZFZ , 6ZG4 , 6ZG9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	42 → 418	7 transmembrane receptor (rhodopsin family)	Family

Sequence

MNTSAPPAVSPNITVLAPGKGPWQVAFIGITTGLLSLATVTGNLLVLISFKVNTELKTVN
NYFLLSLACADLIIGTFSMNLYTTYLLMGHWALGTLACDLWLALDYVASNASVMNLLLIS
FDRYFSVTRPLSYRAKRTPRRAALMIGLAWLVSFVLWAPAILFWQYLVGERTVLAGQCYI
QFLSQPIITFGTAMAAFYLPVTVMCTLYWRIYRETENRARELAALQGSETPGKGGGSSSS
SERSQPGAEGSPETPPGRCCRCCRAPRLLQAYSWKEEEEEDEGSMESLTSSEGEEPGSEV
VIKMPMVDPEAQAPTKQPPRSSPNTVKRPTKKGRDRAGKGQKPRGKEQLAKRKTFSLVKE
KKAARTLSAILLAFILTWTPYNIMVLVSTFCKDCVPETLWELGYWLCYVNSTINPMCYAL
CNKAFRDTFRLLLLCRWDKRRWRKIPKRPGSVHRTPSRQC

Sequence length

460

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction PI3K-Akt signaling pathway Cholinergic synapse Regulation of actin cytoskeleton Alzheimer disease Pathways of neurodegeneration - multiple diseases		Muscarinic acetylcholine receptors G alpha (q) signalling events

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CHRM1-related neurodevelopmental disorder	Likely pathogenic	rs2135039016	RCV004671389
See cases	Likely pathogenic	rs2135039016	RCV001420228

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	18414411
alpha 1 Antitrypsin Deficiency	Stimulate	2309708, 3040726
alpha 1 Antitrypsin Deficiency	Associate	2309708
Alzheimer Disease	Inhibit	36475335
Asthma	Associate	16931638
Carcinoma Renal Cell	Inhibit	31862408
Colorectal Neoplasms	Associate	25408579
Developmental Disabilities	Associate	34212451
Drug Resistant Epilepsy	Associate	34212451
Dyskinesia Drug Induced	Associate	30623717
Epilepsy	Associate	34212451
Hypoxia	Associate	31862408
Ige Responsiveness Atopic	Associate	16931638
Inflammation	Associate	16931638
Intellectual Disability	Associate	34212451
Medulloblastoma	Associate	18952980
Mitochondrial Diseases	Associate	36002781
Myopia	Associate	19753311
Nerve Degeneration	Associate	36002781
Neural Tube Defects	Stimulate	33491544
Neuralgia	Associate	36002781
Ocular Albinism type 1	Associate	3040726
Peripheral Nervous System Diseases	Associate	36002781
Prostatic Neoplasms	Associate	30027929, 32205868
Prostatic Neoplasms Castration Resistant	Associate	32205868
REM Sleep Parasomnias	Associate	36475335
Seizures	Associate	34212451
Sensation Disorders	Associate	36002781
Sleep Wake Disorders	Associate	36475335
Small Fiber Neuropathy	Associate	36002781
Stomach Neoplasms	Associate	31322220
Urinary Bladder Neoplasms	Associate	24914957

CHRM1 (cholinergic receptor muscarinic 1)