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

    Gene ID: 8989, updated on 13-Nov-2024

    Summary

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    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

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    See TRPA1 in Genome Data Viewer
    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_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:72753440-72754300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19278 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27522 Neighboring gene MSC antisense RNA 1 Neighboring gene musculin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19280 Neighboring gene ribosomal protein S20 pseudogene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27525 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:72945660-72946859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:72987624-72988195 Neighboring gene uncharacterized LOC124901962 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:73064806-73065399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27527 Neighboring gene transient receptor potential cation channel subfamily A member 2, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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?
    1. The role of TRPA1 and TRPV1 in the perception of astringency.
      Title: The role of TRPA1 and TRPV1 in the perception of astringency.
    2. Human Transient Receptor Potential Ankyrin 1 Channel: Structure, Function, and Physiology.
      Title: Human Transient Receptor Potential Ankyrin 1 Channel: Structure, Function, and Physiology.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. [TRPA1 channel mediates oxidative stress defense in cancer].
      Title: [TRPA1 channel mediates oxidative stress defense in cancer].
    9. 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.
    10. 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
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

    1. NG_033890.1 RefSeqGene

      Range
      5001..59335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      72021250..72090010 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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)

    2. 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

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      72456370..72525074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    2. XM_054361456.1 → XP_054217431.1  transient receptor potential cation channel subfamily A member 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75762.3 GenPept UniProtKB/Swiss-Prot:O75762

    Gene LinkOut

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