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Relevance to Autism

Genetic association has been found between the HTR1B gene and autism in a Brazilian population cohort (Orabona et al., 2009).

Molecular Function

The encoded protein belongs to G-protein coupled receptor 1 family.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
HTR1B and HTR2C in autism spectrum disorders in Brazilian families.
ASD
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Highly Cited
Increased vulnerability to cocaine in mice lacking the serotonin-1B receptor.
Highly Cited
Enhanced aggressive behavior in mice lacking 5-HT1B receptor.
Recent Recommendation
Anabolic-androgenic steroid treatment induces behavioral disinhibition and downregulation of serotonin receptor messenger RNA in the prefrontal cor...
Recent Recommendation
Alterations in 5-HT1B receptor function by p11 in depression-like states.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN127R001 
 missense_variant 
 c.139C>T 
 p.Pro47Ser 
 Unknown 
  
 Unknown 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN127C001 
 2KB_upstream_variant 
 rs130057 
 c.-182insCC 
  
 Brazilian 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
6
Deletion
 2
 
6
Deletion
 2
 
6
Deletion
 1
 
6
Deletion
 1
 
6
Deletion
 6
 
6
Deletion
 1
 
6
Deletion
 1
 
6
Deletion-Duplication
 25
 

Model Summary

Participation of receptors in aggressive behavior.

References

Type
Title
Author, Year
Primary
Enhanced aggressive behavior in mice lacking 5-HT1B receptor.
Additional
Enhanced aggressive behavior in mice lacking 5-HT1B receptor.

M_HTR1B_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Homologous recombination mediated deletion of both copies of the Htr1b gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6
Genetic Background: 129/Sv-ter
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_HTR1B_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Homologous recombination mediated deletion of both copies of the Htr1b gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6
Genetic Background: 129/Sv-ter
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_HTR1B_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Aggression1
Increased
Description: Increased number and intensity of attacks; decreased latency to attack intruder
Exp Paradigm: Resident intruder paradigm
 Resident-intruder test
 12- 14 weeks
Protein expression: in situ protein expression1
Decreased
Description: Absence of 125i-cyp binding in brain
Exp Paradigm: 5-ht1b receptor autoradiography
 Autoradiographic analysis
 12 weeks
General characteristics1
 No change
 General observations
 12 weeks
General locomotor activity1
 No change
 Open field test
 12 weeks
General locomotor activity1
 No change
 Open field test
 12 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory

M_HTR1B_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Protein expression: in situ protein expression1
 No change
 Autoradiographic analysis
 12 week
Aggression1
 No change
 Resident-intruder test
 12-14 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory





Download HTR1B's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CD209 CD209 antigen 30835 Q9NNX6-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
GSTK1 glutathione S-transferase kappa 1 373156 Q9Y2Q3 LC-MS/MS
LC/ESI/MS/MS
Ewing RM , et al. 2007
MDFI MyoD family inhibitor 4188 Q99750 Y2H
Corominas R , et al. 2014
MDFI MyoD family inhibitor 4188 Q99750 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
NME2 NME/NM23 nucleoside diphosphate kinase 2 4831 P22392 LC-MS/MS
LC/ESI/MS/MS
Ewing RM , et al. 2007

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