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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CHRM1-related neurodevelopmental disorder	Likely pathogenic	rs2135039016	RCV004671389	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTHMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIA GRAVIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (51)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	21682298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36475335	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	27991860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16931638, 19183167, 24430298		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	LHGDN	16931638		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	16931638	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	18333967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	CTD_human_DG	18501976		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31862408	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	10069499, 11392617, 12091480, 12713643, 8028781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	24694019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25408579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	10069499, 11392617, 12091480, 12713643, 8028781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	15059034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34212451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CTD_human_DG	18333967		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	34212451	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	18333967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	10069499, 11392617, 12091480, 12713643, 8028781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Atypical Mole Melanoma Syndrome	Atypical Mole Melanoma Syndrome	BEFREE	2790806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	10069499, 11392617, 12091480, 12713643, 8028781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23455440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31862408	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34212451	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	10069499, 11392617, 12091480, 12713643, 8028781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27606721, 30027929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30185628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	18952980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	CTD_human_DG	21682298		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36002781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	19753311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24694019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	33491544	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15059034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ocular Albinism type 1	Ocular albinism	Pubtator	3040726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	LHGDN	18073210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	36002781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	15059034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27606721, 30027929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30027929, 32205868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	12476323, 12707929		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	14504414, 18317461, 20926259, 22391213, 23423139, 26481978, 26954460, 28221369, 29848411, 30125244, 30623717, 31428788		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	14504414, 18317461, 22391213, 23423139		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	34212451	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myopia	Myopia	BEFREE	19753311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	10069499, 11392617, 12091480, 12713643, 8028781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31322220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	10069499, 11392617, 12091480, 12713643, 8028781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	23423139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24914957	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	10069499, 11392617, 12091480, 12713643, 8028781		★★★★★ ★☆☆☆☆ Found in Text Mining only

CHRM1 (cholinergic receptor muscarinic 1)