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

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ASIC1a involves the acid-mediated activation of pancreatic stellate cells associated with autophagy induction.
Title: ASIC1a involves the acid-mediated activation of pancreatic stellate cells associated with autophagy induction.
ASIC1a stimulates the resistance of human hepatocellular carcinoma by promoting EMT via the AKT/GSK3beta/Snail pathway driven by TGFbeta/Smad signals.
Title: ASIC1a stimulates the resistance of human hepatocellular carcinoma by promoting EMT via the AKT/GSK3β/Snail pathway driven by TGFβ/Smad signals.
Regulation of gliomagenesis and stemness through acid sensor ASIC1a.
Title: Regulation of gliomagenesis and stemness through acid sensor ASIC1a.
Upregulation of acid sensing ion channels is associated with esophageal hypersensitivity in GERD.
Title: Upregulation of acid sensing ion channels is associated with esophageal hypersensitivity in GERD.
Therapeutic Inhibition of Acid-Sensing Ion Channel 1a Recovers Heart Function After Ischemia-Reperfusion Injury.
Title: Therapeutic Inhibition of Acid-Sensing Ion Channel 1a Recovers Heart Function After Ischemia-Reperfusion Injury.
Mutation of a conserved glutamine residue does not abolish desensitization of acid-sensing ion channel 1.
Title: Mutation of a conserved glutamine residue does not abolish desensitization of acid-sensing ion channel 1.
Acidic microenvironment induction of interleukin-8 expression and matrix metalloproteinase-2/-9 activation via acid-sensing ion channel 1 promotes breast cancer cell progression.
Title: Acidic microenvironment induction of interleukin-8 expression and matrix metalloproteinase-2/-9 activation via acid-sensing ion channel 1 promotes breast cancer cell progression.
Structure and analysis of nanobody binding to the human ASIC1a ion channel.
Title: Structure and analysis of nanobody binding to the human ASIC1a ion channel.
Kinetic analysis of ASIC1a delineates conformational signaling from proton-sensing domains to the channel gate.
Title: Kinetic analysis of ASIC1a delineates conformational signaling from proton-sensing domains to the channel gate.
ASIC1 and ASIC3 mediate cellular senescence of human nucleus pulposus mesenchymal stem cells during intervertebral disc degeneration.
Title: ASIC1 and ASIC3 mediate cellular senescence of human nucleus pulposus mesenchymal stem cells during intervertebral disc degeneration.

Submit: New GeneRIF Correction See all GeneRIFs (84)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70705 (e-PCR)
- UniSTS:77696

WI-22480 (e-PCR)
- UniSTS:63474

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

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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)

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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)

NM_001095.4 → NP_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:19 → 510

ENaC; sodium channel transporter
NM_001256830.2 → NP_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:64 → 544

ASC; Amiloride-sensitive sodium channel
NM_001412756.1 → NP_001399685.1 acid-sensing ion channel 1 isoform d

Status: REVIEWED

Source sequence(s)

AC025154
NM_001412757.1 → NP_001399686.1 acid-sensing ion channel 1 isoform b

Status: REVIEWED

Source sequence(s)

AC025154

UniProtKB/Swiss-Prot

A3KN86, E5KBL7, P78348, P78349, Q96CV2
NM_001412758.1 → NP_001399687.1 acid-sensing ion channel 1 isoform e

Status: REVIEWED

Source sequence(s)

AC025154
NM_001412759.1 → NP_001399688.1 acid-sensing ion channel 1 isoform f

Status: REVIEWED

Source sequence(s)

AC025154
NM_001412760.1 → NP_001399689.1 acid-sensing ion channel 1 isoform f

Status: REVIEWED

Source sequence(s)

AC025154
NM_001412761.1 → NP_001399690.1 acid-sensing ion channel 1 isoform g

Status: REVIEWED

Source sequence(s)

AC025154

Related

ENSP00000402896.3, ENST00000453327.7
NM_001412762.1 → NP_001399691.1 acid-sensing ion channel 1 isoform g

Status: REVIEWED

Source sequence(s)

AC025154
NM_020039.4 → NP_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:19 → 556

ENaC; sodium channel transporter

RNA

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

50057596..50083622

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A8K1U5

Conserved Domains (1) summary

TIGR00859
Location:19 → 542

ENaC; sodium channel transporter
XM_011538352.2 → XP_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:19 → 511

ENaC; sodium channel transporter