ASIC1 (acid sensing ion channel subunit 1)

Gene

• Entrez ID: 41
• Gene name: Acid sensing ion channel subunit 1
• Gene symbol: ASIC1
• Synonyms (NCBI Gene): ACCN2, ASIC, BNaC2
• Chromosome: 12
• Chromosome location: 12q13.12
• Summary: This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052268	hsa-let-7b-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001662	Process	Behavioral fear response	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11802773, 32296183, 33961781
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21036899
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	22760635
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	NAS	9037075
GO:0006816	Process	Calcium ion transport	IEA
GO:0007269	Process	Neurotransmitter secretion	IBA
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0007613	Process	Memory	IEA
GO:0008306	Process	Associative learning	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010447	Process	Response to acidic pH	IEA
GO:0015280	Function	Ligand-gated sodium channel activity	IBA
GO:0015280	Function	Ligand-gated sodium channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0022839	Function	Monoatomic ion-gated channel activity	IEA
GO:0022890	Function	Inorganic cation transmembrane transporter activity	IEA
GO:0030425	Component	Dendrite	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	22760635
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	ISS
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046929	Process	Negative regulation of neurotransmitter secretion	IEA
GO:0050915	Process	Sensory perception of sour taste	IEA
GO:0050915	Process	Sensory perception of sour taste	IMP	19812697
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071467	Process	Cellular response to pH	IDA	22760635
GO:0098662	Process	Inorganic cation transmembrane transport	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IDA	32996060
GO:0098839	Component	Postsynaptic density membrane	IMP	32996060
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0098978	Component	Glutamatergic synapse	IDA	32996060
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IMP	32996060
GO:0150052	Process	Regulation of postsynapse assembly	IEA
GO:0160128	Function	PH-gated monoatomic ion channel activity	IDA	21036899
GO:0160128	Function	PH-gated monoatomic ion channel activity	IDA	21036899, 22760635
GO:0160128	Function	PH-gated monoatomic ion channel activity	IEA
GO:0160128	Function	PH-gated monoatomic ion channel activity	ISS

Other IDs

• MIM: 602866
• HGNC: 100
• e!Ensembl: ENSG00000110881

Protein

• UniProt ID: P78348
• Protein name: Acid-sensing ion channel 1 (ASIC1) (Amiloride-sensitive cation channel 2, neuronal) (Brain sodium channel 2)
• Protein function: Forms voltage-independent, pH-gated trimeric sodium channels that act as postsynaptic excitatory receptors in the nervous system, playing a crucial role in regulating synaptic plasticity, learning, and memory (PubMed:21036899, PubMed:32915133, P
• PDB: 6L6I, 6L6N, 7CFS, 7CFT, 7RNN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00858	ASC	21 → 456	Amiloride-sensitive sodium channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in neurons throughout the central and peripheral nervous system. {ECO:0000269|PubMed:9037075}.
• Sequence:

  MELKAEEEEVGGVQPVSIQAFASSSTLHGLAHIFSYERLSLKRALWALCFLGSLAVLLCV
  CTERVQYYFHYHHVTKLDEVAASQLTFPAVTLCNLNEFRFSQVSKNDLYHAGELLALLNN
  RYEIPDTQMADEKQLEILQDKANFRSFKPKPFNMREFYDRAGHDIRDMLLSCHFRGEVCS
  AEDFKVVFTRYGKCYTFNSGRDGRPRLKTMKGGTGNGLEIMLDIQQDEYLPVWGETDETS
  FEAGIKVQIHSQDEPPFIDQLGFGVAPGFQTFVACQEQRLIYLPPPWGTCKAVTMDSDLD
  FFDSYSITACRIDCETRYLVENCNCRMVHMPGDAPYCTPEQYKECADPALDFLVEKDQEY
  CVCEMPCNLTRYGKELSMVKIPSKASAKYLAKKFNKSEQYIGENILVLDIFFEVLNYETI
  EQKKAYEIAGLLGDIGGQMGLFIGASILTVLELFDYAYEVIKHKLCRRGKCQKEAKRSSA
  DKGVALSLDDVKRHNPCESLRGHPAGMTYAANILPHHPARGTFEDFTC

• Sequence length: 528

Pathways

KEGG:

Inflammatory mediator regulation of TRP channels

Reactome:

Stimuli-sensing channels

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BRAIN INJURIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoid Cystic Carcinoma	Adenocarcinoma	LHGDN	17324378		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	18349698, 25913301		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	24529281, 25913301	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	18349698, 25913301, 29968500		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	34199609	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	CTD_human_DG	21307247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	40149892	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	LHGDN	17984098		★☆☆☆☆ Found in Text Mining only
Chronic interstitial cystitis	Interstitial Cystitis	BEFREE	23727186		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	30124148		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23365093		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30822229		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30822229		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	28428534	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19561078, 24100685		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22130665	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34515325	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19561078, 24100685		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26108662, 29057936, 34515325	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	18658163		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23365093, 24186095, 31169471		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29867539		★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	23727186		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	33824228	Associate	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	40149892	Stimulate	★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	LHGDN	15952105		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28111260, 30583668		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34199609	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	30079481		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	23109150		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23365093		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28111260		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28030818		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	29111855		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	BEFREE	29971861		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	24529281, 26575296, 26589317, 28121219		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic disorder	Pubtator	24529281, 25913301	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29867539		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24923411		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	28428534	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	34199609	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28111260, 29584803, 30583668		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30583668	Associate	★☆☆☆☆ Found in Text Mining only