ASIC1 - acid sensing ion channel subunit 1 Gene

Homo sapiens

Also known as ASIC; ACCN2; BNaC2

Gene ID: 41 | Gene type: protein coding

About ASIC1

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:50,057,596-50,083,622 (from NCBI)

This gene has 9 transcripts (splice variants), 230 orthologues and 8 paralogues. Biased expression in brain (RPKM 17.4), prostate (RPKM 1.9) and 3 other tissues.

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. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]

ASIC1 Products(10)

mRNA	Protein	Name
NM_001095.4	NP_001086.2	acid-sensing ion channel 1 isoform b
NM_001256830.2	NP_001243759.1	acid-sensing ion channel 1 isoform c
NM_001412756.1	NP_001399685.1	acid-sensing ion channel 1 isoform d
NM_001412757.1	NP_001399686.1	acid-sensing ion channel 1 isoform b
NM_001412758.1	NP_001399687.1	acid-sensing ion channel 1 isoform e
NM_001412759.1	NP_001399688.1	acid-sensing ion channel 1 isoform f
NM_001412760.1	NP_001399689.1	acid-sensing ion channel 1 isoform f
NM_001412761.1	NP_001399690.1	acid-sensing ion channel 1 isoform g
NM_001412762.1	NP_001399691.1	acid-sensing ion channel 1 isoform g
NM_020039.4	NP_064423.2	acid-sensing ion channel 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables pH-gated monoatomic ion channel activity	IDA IDA: Inferred from direct assay	21036899	GOA
enables pH-gated monoatomic ion channel activity	IDA IDA: Inferred from direct assay	21036899	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11802773	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to pH	IDA IDA: Inferred from direct assay	22760635	GOA
involved in sensory perception of sour taste	IMP IMP: Inferred from mutant phenotype	19812697	GOA
involved in sodium ion transmembrane transport	IDA IDA: Inferred from direct assay	22760635	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	32996060	GOA
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	32996060	GOA
is active in plasma membrane	IDA IDA: Inferred from direct assay	21036899	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	22760635	GOA
is active in postsynaptic density membrane	IDA IDA: Inferred from direct assay	32996060	GOA
is active in postsynaptic density membrane	IMP IMP: Inferred from mutant phenotype	32996060	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ASIC1 Protein Structure

ASC

0
100
200
300
400
500
528 a.a.

Protein Preferred Names

Protein Names

acid-sensing ion channel 1

Cation channel, amiloride-sensitive, neuronal, 2

Related Diseases

Diseases

Alias

Pseudohypoaldosteronism, Type I, Autosomal Recessive

Autosomal Recessive Pseudohypoaldosteronism Type 1	PHA1B
Pseudohypoaldosteronism Type 1	Pseudohypoaldosteronism, Type I
Generalized Pha1	Generalized Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism Type 1 Autosomal Recessive	Pha1
Pseudohypoaldosteronism	Pha I, Autosomal Recessive
Autosomal Recessive Pha 1	Pseudohypoaldosteronism Type 1, Recessive
Pseudohypoaldosteronism Type I	Autosomal Recessive Pha1
Pha Type 1	Pseudohypoaldosteronism 1, Autosomal Recessive
Multisystem Pseudohypoaldosteronism	Pha Type I, Autosomal Recessive
Pseudohypoaldosteronism Type I, Autosomal Recessive

Frozen Shoulder

Adhesive Capsulitis Of Shoulder	Bursitis
Adhesions-Capsulitis,Shoulder	Pericapsulitis Of Shoulder
Duplay Bursitis	Adhesive Shoulder Peritendinitis
Subscapular Adhesion	Shoulder Adhesion
Adhesive Enthesopathy Of Shoulder Region	Adhesive Peritendinitis
Adhesive Shoulder Tenosynovitis	Duplay Periarthritis
Adhesive Shoulder Tendinitis

Ischemia

Acute Coronary Syndrome

Panic Disorder

Panic Anxiety Syndrome	Panic
Panic Disorder 1	Episodic Paroxysmal Anxiety Disorder

Liddle Syndrome 1

Liddle Syndrome	Pseudoaldosteronism
Liddle'S Syndrome	LIDLS1
Lidls	Pseudohyperaldosteronism
Pseudoprimary Hyperaldosteronism	Pseudohyperaldosteronism Type 1
Liddles Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P1411	Psalmotoxin 1		≥99.0%	Unkown
HY-131879	NS383		99.83%	Unkown
HY-P5174	MitTx	Activator	≥98.0%	Unkown
HY-P1441A	Mambalgin 1 TFA	Inhibitor	95.72%	Unkown
HY-131261	Ibuprofen alcohol		/	Unkown
HY-155017	6-Iodoamiloride	Inhibitor	/	Unkown
HY-164284	LK-2		/	Unkown
HY-P1411A	Psalmotoxin 1 TFA		99.37%	Unkown
HY-P5172	MitTx-alpha	Agonist	/	Unkown
HY-P5780	π-TRTX-Hm3a	Inhibitor	/	Unkown
HY-P5899	Mambalgin-3	Inhibitor	/	Unkown
HY-RS01089	ASIC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ASIC1	VGNC	VGNC:38177
Felis catus	ASIC1	VGNC	VGNC:59971
Rattus norvegicus	ASIC1	RGD	RGD:71062
Bos taurus	ASIC1	VGNC	VGNC:26210
Mus musculus	ASIC1	MGD	MGI:1194915
Macaca mulatta	ASIC1	VGNC	VGNC:70035

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