ASIC1 - acid sensing ion channel subunit 1 Gene

Also Known as ASIC; ACCN2; BNaC2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 41

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

ASC: Amiloride-sensitive sodium channel (21 - 456)

  • 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

ASIC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ASIC1 P78348 MGST2 Homo sapiens Q99735 32296183
Intra
ASIC1 P78348 MGST2 Homo sapiens Q99735 32296183
Intra
ASIC1 P78348 MGST2 Homo sapiens Q99735 32296183
Intra
ASIC1 P78348 KIR3DL3 Homo sapiens Q8N743 32296183
Intra
ASIC1 P78348 KIR3DL3 Homo sapiens Q8N743 32296183
Intra
ASIC1 P78348 KIR3DL3 Homo sapiens Q8N743 32296183
Intra
ASIC1 P78348 PICK1 Homo sapiens Q9NRD5
Y2H
11802773
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others ASIC1 NCBI