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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	41
Gene name Gene Name - the full gene name approved by the HGNC.	Acid sensing ion channel subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ASIC1
Synonyms (NCBI Gene) Gene synonyms aliases	ACCN2, ASIC, BNaC2
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.12
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(1)

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

Show/Hide all(60)

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

MIM	HGNC	e!Ensembl
602866	100	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

Interactions

View interactions

	KEGG		Reactome
	Inflammatory mediator regulation of TRP channels		Stimuli-sensing channels

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anxiety	Associate	24529281, 25913301
Basal Cell Nevus Syndrome	Associate	34199609
Carcinoma Hepatocellular	Associate	40149892
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	28428534
Glioblastoma	Associate	22130665
Glioblastoma	Inhibit	34515325
Glioma	Associate	26108662, 29057936, 34515325
IgA Vasculitis	Associate	28428534
Intervertebral Disc Degeneration	Associate	33824228
Liver Neoplasms	Stimulate	40149892
Melanoma	Associate	34199609
Neoplasms	Associate	30583668, 34199609, 40149892
Panic Disorder	Associate	24529281, 25913301
Rufous oculocutaneous albinism	Stimulate	28428534
Signs and Symptoms Respiratory	Associate	24529281
Skin Neoplasms	Associate	34199609
Stomach Neoplasms	Associate	30583668

ASIC1 (acid sensing ion channel subunit 1)