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    HTR1A 5-hydroxytryptamine receptor 1A [ Homo sapiens (human) ]

    Gene ID: 3350, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HTR1Aprovided by HGNC
    Official Full Name
    5-hydroxytryptamine receptor 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:5286
    See related
    Ensembl:ENSG00000178394 MIM:109760; AllianceGenome:HGNC:5286
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G-21; 5HT1a; PFMCD; 5-HT1A; 5-HT-1A; ADRBRL1; ADRB2RL1
    Summary
    This gene encodes a G protein-coupled receptor for 5-hydroxytryptamine (serotonin), and belongs to the 5-hydroxytryptamine receptor subfamily. Serotonin has been implicated in a number of physiologic processes and pathologic conditions. Inactivation of this gene in mice results in behavior consistent with an increased anxiety and stress response. Mutation in the promoter of this gene has been associated with menstrual cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012]
    Orthologs
    mouse all
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    Genomic context

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    See HTR1A in Genome Data Viewer
    Location:
    5q12.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (63957874..63962445, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (64778009..64782580, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (63253701..63258272, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986416 Neighboring gene uncharacterized LOC105378999 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:63256149-63256370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:63257009-63257986 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:63315837-63316027 Neighboring gene Sharpr-MPRA regulatory region 1263 Neighboring gene ring finger protein 180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:63702820-63703320 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:63703321-63703821 Neighboring gene RNA, 7SL, cytoplasmic 169, pseudogene Neighboring gene regulator of G protein signaling 7 binding protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Association study between the serotonin 1A receptor (HTR1A) gene and neuroticism, major depression, and anxiety disorders. Hettema JM, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Jul 5. PMID 18163385, Free PMC Article
    2. Solubilization of human serotonin 1A receptors expressed in neuronal cells. Jafurulla M, et al. Chem Phys Lipids, 2007 Dec. PMID 17888419
    3. Serotonin receptor 1A C(-1019)G polymorphism associated with premenstrual dysphoric disorder. Dhingra V, et al. Obstet Gynecol, 2007 Oct. PMID 17906010
    4. 5-HT1A gene variants and psychiatric disorders: a review of current literature and selection of SNPs for future studies. Drago A, et al. Int J Neuropsychopharmacol, 2008 Aug. PMID 18047755
    5. Serotonin-1A receptor polymorphism (rs6295) associated with thermal pain perception. Lindstedt F, et al. PLoS One, 2012. PMID 22952650, Free PMC Article

    See all (400) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association between 5-HT1A receptor C-1019G, 5-HTTLPR polymorphisms and panic disorder: a meta-analysis.
      Title: Association between 5-HT1A receptor C-1019G, 5-HTTLPR polymorphisms and panic disorder: a meta-analysis.
    2. Targeting 5-Hydroxytryptamine Receptor 1A in the Portal Vein to Decrease Portal Hypertension.
      Title: Targeting 5-Hydroxytryptamine Receptor 1A in the Portal Vein to Decrease Portal Hypertension.
    3. Genetic variation of the 5-HT1A rs6295, 5-HT2A rs6311, and CNR1 rs1049353 and an altered endocannabinoid system in depressed patients.
      Title: Genetic variation of the 5-HT1A rs6295, 5-HT2A rs6311, and CNR1 rs1049353 and an altered endocannabinoid system in depressed patients.
    4. Transcriptional Regulation of the Human 5-HT1A Receptor Gene by Lithium: Role of Deaf1 and GSK3beta.
      Title: Transcriptional Regulation of the Human 5-HT1A Receptor Gene by Lithium: Role of Deaf1 and GSK3β.
    5. ADRA2B and HTR1A: An Updated Study of the Biogenic Amine Receptors Reveals Novel Conserved Motifs Which Play Key Role in Mental Disorders.
      Title: ADRA2B and HTR1A: An Updated Study of the Biogenic Amine Receptors Reveals Novel Conserved Motifs Which Play Key Role in Mental Disorders.
    6. Galpha Protein Signaling Bias at Serotonin 1A Receptor.
      Title: Gα Protein Signaling Bias at Serotonin 1A Receptor.
    7. Association between single-nucleotide polymorphisms in serotonin receptor 2A and melatonin receptor 1A genes and pain after root canal treatment.
      Title: Association between single-nucleotide polymorphisms in serotonin receptor 2A and melatonin receptor 1A genes and pain after root canal treatment.
    8. The association between 5-HT1A binding and temporal lobe epilepsy: A meta-analysis of molecular imaging studies.
      Title: The association between 5-HT1A binding and temporal lobe epilepsy: A meta-analysis of molecular imaging studies.
    9. Influence of TPH2 and HTR1A polymorphisms on lifelong premature ejaculation risk among the chinese Han population.
      Title: Influence of TPH2 and HTR1A polymorphisms on lifelong premature ejaculation risk among the chinese Han population.
    10. HTR1A, TPH2, and 5-HTTLPR Polymorphisms and Their Impact on the Severity of Depressive Symptoms and on the Concentration of Tryptophan Catabolites during Hepatitis C Treatment with Pegylated Interferon-alpha2a and Oral Ribavirin (PEG-IFN-alpha2a/RBV).
      Title: HTR1A, TPH2, and 5-HTTLPR Polymorphisms and Their Impact on the Severity of Depressive Symptoms and on the Concentration of Tryptophan Catabolites during Hepatitis C Treatment with Pegylated Interferon-α2a and Oral Ribavirin (PEG-IFN-α2a/RBV).
    Submit: New GeneRIF Correction See all GeneRIFs (306)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Menstrual cycle-dependent periodic fever
    MedGen: C3553418 OMIM: 614674 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
    EBI GWAS Catalog
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
    EBI GWAS Catalog
    Genome-wide significant association signals in IPO11-HTR1A region specific for alcohol and nicotine codependence.
    EBI GWAS Catalog

    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 G protein-coupled serotonin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G protein-coupled serotonin receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables G protein-coupled serotonin receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables Gi/o-coupled serotonin receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables neurotransmitter receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables receptor-receptor interaction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables serotonin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serotonin receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adenylate cyclase-inhibiting serotonin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adenylate cyclase-inhibiting serotonin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in behavioral fear response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in exploration behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in gamma-aminobutyric acid signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of dopamine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of hormone secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of serotonin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in serotonin metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in serotonin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    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
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    5-hydroxytryptamine receptor 1A
    Names
    5-HT1a receptor
    5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
    guanine nucleotide-binding regulatory protein-coupled 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_032816.1 RefSeqGene

      Range
      5001..7245
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000524.4 → NP_000515.2  5-hydroxytryptamine receptor 1A

      See identical proteins and their annotated locations for NP_000515.2

      Status: VALIDATED

      Source sequence(s)
      AC122707
      Consensus CDS
      CCDS34168.1
      UniProtKB/Swiss-Prot
      P08908, Q6LAE7
      UniProtKB/TrEMBL
      A8K5W4, Q5ZGX3
      Related
      ENSP00000316244.4, ENST00000323865.5
      Conserved Domains (2) summary
      pfam00001
      Location:53 → 400
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      cl21561
      Location:48 → 169
      7tm_4; Olfactory receptor

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      63957874..63962445 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      64778009..64782580 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08908.3 GenPept UniProtKB/Swiss-Prot:P08908

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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