Gene Gene information from NCBI Gene database.
Entrez ID 3350
Gene name 5-hydroxytryptamine receptor 1A
Gene symbol HTR1A
Synonyms (NCBI Gene)
5-HT-1A5-HT1A5HT1aADRB2RL1ADRBRL1G-21PFMCD
Chromosome 5
Chromosome location 5q12.3
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 th
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs6295 C>A,G Likely-benign, benign, drug-response Upstream transcript variant
rs367956927 T>- Pathogenic 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
3
miRTarBase ID miRNA Experiments Reference
MIRT018705 hsa-miR-335-5p Microarray 18185580
MIRT438131 hsa-miR-135a-5p Luciferase reporter assay 24952960
MIRT438131 hsa-miR-135a-5p Luciferase reporter assay 24952960
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
DEAF1 Repression 14507979
HES1 Unknown 18499474
HES6 Unknown 18499474
MAZ Unknown 8626793
PARP1 Repression 21990073
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0001586 Function Gi/o-coupled serotonin receptor activity IDA 33762731, 37935376, 37935377
GO:0001586 Function Gi/o-coupled serotonin receptor activity IEA
GO:0001662 Process Behavioral fear response IEA
GO:0001662 Process Behavioral fear response ISS
GO:0004930 Function G protein-coupled receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
109760 5286 ENSG00000178394
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08908
Protein name 5-hydroxytryptamine receptor 1A (5-HT-1A) (5-HT1A) (G-21) (Serotonin receptor 1A)
Protein function G-protein coupled receptor for 5-hydroxytryptamine (serotonin) (PubMed:22957663, PubMed:3138543, PubMed:33762731, PubMed:37935376, PubMed:37935377, PubMed:8138923, PubMed:8393041). Also functions as a receptor for various drugs and psychoactive
PDB 7E2X , 7E2Y , 7E2Z , 8FY8 , 8FYE , 8FYL , 8FYT , 8FYX , 8JSP , 8JT6 , 8PJK , 8PKM , 8W8B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 53 400 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Detected in lymph nodes, thymus and spleen. Detected in activated T-cells, but not in resting T-cells. {ECO:0000269|PubMed:3041227, ECO:0000269|PubMed:8393041}.
Sequence
Sequence length 422
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cAMP signaling pathway
Neuroactive ligand-receptor interaction
Serotonergic synapse
Taste transduction
  Serotonin receptors
G alpha (i) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
41
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANHEDONIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
APNEA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal involuntary movement Abnormal Involuntary Movement BEFREE 30612008
★☆☆☆☆
Found in Text Mining only
Adult Learning Disorders Learning Disorders CTD_human_DG 12591222
★☆☆☆☆
Found in Text Mining only
Age-Related Memory Disorders Age-Related Memory Disorders CTD_human_DG 12591222
★☆☆☆☆
Found in Text Mining only
Agoraphobia Agoraphobia BEFREE 14984628, 28096880
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25041947 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia Sickle Cell Sickle cell anemia Pubtator 39615579 Associate
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome BEFREE 30681431
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia PSYGENET_DG 19896211
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anhedonia Anhedonia BEFREE 28119169
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anxiety Anxiety disorder Pubtator 10585418, 14984628, 19124686, 23408467, 29249830, 33874644 Associate
★☆☆☆☆
Found in Text Mining only