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ASIC1 acid sensing ion channel subunit 1 [ Homo sapiens (human) ]

Gene ID: 41, updated on 11-Apr-2024

Summary

Official Symbol
ASIC1provided by HGNC
Official Full Name
acid sensing ion channel subunit 1provided by HGNC
Primary source
HGNC:HGNC:100
See related
Ensembl:ENSG00000110881 MIM:602866; AllianceGenome:HGNC:100
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASIC; ACCN2; BNaC2
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]
Expression
Biased expression in brain (RPKM 17.4), prostate (RPKM 1.9) and 3 other tissues See more
Orthologs
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Genomic context

See ASIC1 in Genome Data Viewer
Location:
12q13.12
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (50057596..50083622)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (50020656..50046680)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50451379..50477405)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369764 Neighboring gene aquaporin 6 Neighboring gene Rac GTPase activating protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6338 Neighboring gene Sharpr-MPRA regulatory region 11175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50433443-50434198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50434199-50434954 Neighboring gene CRISPRi-validated cis-regulatory element chr12.1559 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:50444767-50445695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6341 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:50474871-50475040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50477618-50478350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50479817-50480548 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6343 Neighboring gene glycerol-3-phosphate dehydrogenase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ligand-gated sodium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables monoatomic ion-gated channel activity IEA
Inferred from Electronic Annotation
more info
 
enables pH-gated monoatomic ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables pH-gated monoatomic ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables pH-gated monoatomic ion channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in associative learning IEA
Inferred from Electronic Annotation
more info
 
involved_in behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to pH IDA
Inferred from Direct Assay
more info
PubMed 
involved_in memory IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in protein homotrimerization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of membrane potential IEA
Inferred from Electronic Annotation
more info
 
involved_in response to acidic pH IEA
Inferred from Electronic Annotation
more info
 
involved_in response to amphetamine IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sour taste IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sodium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sodium ion transport NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
acid-sensing ion channel 1
Names
Cation channel, amiloride-sensitive, neuronal, 2
acid sensing (proton gated) ion channel 1
acid-sensing ion channel 1a protein
amiloride-sensitive cation channel 2, neuronal
brain sodium channel 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001095.4NP_001086.2  acid-sensing ion channel 1 isoform b

    See identical proteins and their annotated locations for NP_001086.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a. Variants 2 and 6 both encode the same isoform (b).
    Source sequence(s)
    AC025154
    Consensus CDS
    CCDS44876.1
    UniProtKB/Swiss-Prot
    A3KN86, E5KBL7, P78348, P78349, Q96CV2
    UniProtKB/TrEMBL
    A8K1U5
    Related
    ENSP00000400228.3, ENST00000447966.7
    Conserved Domains (1) summary
    TIGR00859
    Location:19510
    ENaC; sodium channel transporter
  2. NM_001256830.2NP_001243759.1  acid-sensing ion channel 1 isoform c

    See identical proteins and their annotated locations for NP_001243759.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also uses an alternate, in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC025154
    Consensus CDS
    CCDS58228.1
    UniProtKB/Swiss-Prot
    P78348
    Related
    ENSP00000450247.1, ENST00000552438.5
    Conserved Domains (1) summary
    cl02990
    Location:64544
    ASC; Amiloride-sensitive sodium channel
  3. NM_001412756.1NP_001399685.1  acid-sensing ion channel 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC025154
  4. NM_001412757.1NP_001399686.1  acid-sensing ion channel 1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC025154
    UniProtKB/Swiss-Prot
    A3KN86, E5KBL7, P78348, P78349, Q96CV2
  5. NM_001412758.1NP_001399687.1  acid-sensing ion channel 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC025154
  6. NM_001412759.1NP_001399688.1  acid-sensing ion channel 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC025154
  7. NM_001412760.1NP_001399689.1  acid-sensing ion channel 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC025154
  8. NM_001412761.1NP_001399690.1  acid-sensing ion channel 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC025154
    Related
    ENSP00000402896.3, ENST00000453327.7
  9. NM_001412762.1NP_001399691.1  acid-sensing ion channel 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC025154
  10. NM_020039.4NP_064423.2  acid-sensing ion channel 1 isoform a

    See identical proteins and their annotated locations for NP_064423.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC025154
    Consensus CDS
    CCDS8796.1
    UniProtKB/TrEMBL
    A8K1U5
    Related
    ENSP00000228468.4, ENST00000228468.8
    Conserved Domains (1) summary
    TIGR00859
    Location:19556
    ENaC; sodium channel transporter

RNA

  1. NR_046389.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate internal exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC025154
    Related
    ENST00000550558.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    50057596..50083622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538350.2XP_011536652.1  acid-sensing ion channel 1 isoform X1

    UniProtKB/TrEMBL
    A8K1U5
    Conserved Domains (1) summary
    TIGR00859
    Location:19542
    ENaC; sodium channel transporter
  2. XM_011538352.2XP_011536654.1  acid-sensing ion channel 1 isoform X2

    See identical proteins and their annotated locations for XP_011536654.1

    UniProtKB/TrEMBL
    A8K1U5
    Conserved Domains (1) summary
    TIGR00859
    Location:19511
    ENaC; sodium channel transporter

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    50020656..50046680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372055.1XP_054228030.1  acid-sensing ion channel 1 isoform X1

  2. XM_054372056.1XP_054228031.1  acid-sensing ion channel 1 isoform X2