TRPA1 transient receptor potential cation channel subfamily A member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRPA1provided by HGNC
Official Full Name: transient receptor potential cation channel subfamily A member 1provided by HGNC
Primary source: HGNC:HGNC:497
See related: Ensembl:ENSG00000104321 MIM:604775; AllianceGenome:HGNC:497
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: FEPS; p120; FEPS1; ANKTM1
Summary: The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. [provided by RefSeq, Jul 2008]
Expression: Biased expression in urinary bladder (RPKM 5.8), colon (RPKM 2.2) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.11

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (72021250..72090010, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (72456370..72525074, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (72933485..72987819, complement)

Chromosome 8 - NC_000008.11 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?

The role of TRPA1 and TRPV1 in the perception of astringency.
Title: The role of TRPA1 and TRPV1 in the perception of astringency.
Human Transient Receptor Potential Ankyrin 1 Channel: Structure, Function, and Physiology.
Title: Human Transient Receptor Potential Ankyrin 1 Channel: Structure, Function, and Physiology.
Critical amino acid residues regulating TRPA1 Zn[2+] response: A comparative study across species.
Title: Critical amino acid residues regulating TRPA1 Zn(2+) response: A comparative study across species.
NCS-1 protein regulates TRPA1 channel through the PI3K pathway in breast cancer and neuronal cells.
Title: NCS-1 protein regulates TRPA1 channel through the PI3K pathway in breast cancer and neuronal cells.
Discovery of PRDM16-Mediated TRPA1 Induction as the Mechanism for Low Tubulo-Interstitial Fibrosis in Diabetic Kidney Disease.
Title: Discovery of PRDM16-Mediated TRPA1 Induction as the Mechanism for Low Tubulo-Interstitial Fibrosis in Diabetic Kidney Disease.
Canine, mouse, and human transient receptor potential ankyrin 1 (TRPA1) channels show different sensitivity to menthol or cold stimulation.
Title: Canine, mouse, and human transient receptor potential ankyrin 1 (TRPA1) channels show different sensitivity to menthol or cold stimulation.
Functional TRPA1 Channels Regulate CD56[dim]CD16[+] NK Cell Cytotoxicity against Tumor Cells.
Title: Functional TRPA1 Channels Regulate CD56(dim)CD16(+) NK Cell Cytotoxicity against Tumor Cells.
[TRPA1 channel mediates oxidative stress defense in cancer].
Title: [TRPA1 channel mediates oxidative stress defense in cancer].
Alkali cation-mediated topology displayed by an exonic G-rich sequence of TRPA1 gene.
Title: Alkali cation-mediated topology displayed by an exonic G-rich sequence of TRPA1 gene.
TRPA1: A promising target for pulmonary fibrosis?
Title: TRPA1: A promising target for pulmonary fibrosis?

Submit: New GeneRIF Correction See all GeneRIFs (232)

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

Associated conditions

Description	Tests
Familial episodic pain syndrome with predominantly upper body involvement MedGen: C3808667 OMIM: 615040 GeneReviews: Not available	Compare labs

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

D8S279 (e-PCR), detects polymorphism
- UniSTS:837

STS-N34377 (e-PCR)
- UniSTS:47712

SHGC-107525 (e-PCR)
- UniSTS:170419

D8S2094 (e-PCR)
- UniSTS:30440

D8S279 (e-PCR), detects polymorphism
- UniSTS:58364

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel activity	TAS Traceable Author Statement more info
enables channel activity	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables intracellularly gated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables intracellularly gated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables temperature-gated cation channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion transmembrane transport	TAS Traceable Author Statement more info
involved_in calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of chemical stimulus involved in sensory perception of pain	IEA Inferred from Electronic Annotation more info
involved_in detection of mechanical stimulus involved in sensory perception of pain	IEA Inferred from Electronic Annotation more info
involved_in intracellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic ion transport	TAS Traceable Author Statement more info	PubMed
involved_in protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in response to cold	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to pain	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of pain	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in thermoception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in stereocilium bundle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transient receptor potential cation channel subfamily A member 1

Names: ankyrin-like with transmembrane domains 1; transformation-sensitive protein p120; wasabi receptor

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.

Genomic

NG_033890.1 RefSeqGene

Range

5001..59335

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_007332.3 → NP_015628.2 transient receptor potential cation channel subfamily A member 1

See identical proteins and their annotated locations for NP_015628.2

Status: REVIEWED

Source sequence(s)

AC016057, AC022867

Consensus CDS

CCDS34908.1

UniProtKB/Swiss-Prot

A6NIN6, O75762

UniProtKB/TrEMBL

H0YAW0

Related

ENSP00000262209.4, ENST00000262209.5

Conserved Domains (5) summary

COG0666
Location:416 → 623

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

sd00045
Location:97 → 128

ANK; ANK repeat [structural motif]

pfam00520
Location:796 → 972

Ion_trans; Ion transport protein

pfam12796
Location:486 → 577

Ank_2; Ankyrin repeats (3 copies)

cl39094
Location:80 → 374

Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

72021250..72090010 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011517625.3 → XP_011515927.1 transient receptor potential cation channel subfamily A member 1 isoform X2

See identical proteins and their annotated locations for XP_011515927.1

UniProtKB/Swiss-Prot

A6NIN6, O75762

UniProtKB/TrEMBL

H0YAW0

Conserved Domains (5) summary

COG0666
Location:416 → 623

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

sd00045
Location:97 → 128

ANK; ANK repeat [structural motif]

pfam00520
Location:796 → 972

Ion_trans; Ion transport protein

pfam12796
Location:486 → 577

Ank_2; Ankyrin repeats (3 copies)

cl39094
Location:80 → 374

Ank_2; Ankyrin repeats (3 copies)
XM_011517624.3 → XP_011515926.1 transient receptor potential cation channel subfamily A member 1 isoform X1

Conserved Domains (5) summary

cd00204
Location:120 → 243

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam00520
Location:769 → 997

Ion_trans; Ion transport protein

pfam12796
Location:511 → 602

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:91 → 143

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:122 → 153

ANK; ANK repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

72456370..72525074 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054361455.1 → XP_054217430.1 transient receptor potential cation channel subfamily A member 1 isoform X1
XM_054361456.1 → XP_054217431.1 transient receptor potential cation channel subfamily A member 1 isoform X2