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

Gene ID: 3350, updated on 2-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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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
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)

Genotypes

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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