BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	DRD1
Approved Name	dopamine receptor D1
Location	5q34-q35
Position	chr5:175440039-175444208, -1
External Links	HGNC: 3020 Entrez Gene: 1812 Ensembl: ENSG00000184845 UCSC: uc003mcz.3
No. of Studies	11 (Positive: 6; Negative: 5; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 11)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Szczepankiewicz, A., 2007	Other variant: DRD1_-48A/G	We have not found any significant differences in genotype distribution of the polymorphisms of this dopamine gene between bipolar disorder patients with/without comorbid alcohol abuse and controls.	Negative	Comment on Study
Del Zompo, M., 2007	Haplotype: DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800T/-48A/1403T), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800T/-48A/1403C), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800T/-48G/1403T), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800T/-48G/1403C), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800C/-48A/1403T), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800C/-48A/1403C), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800C/-48G/1403T), DRD1_-800T/C - DRD1_-48A/G - DRD1_1403T/C(-800C/-48G/1403C) Other variant: DRD1_1403T/C, DRD1_-48A/G, DRD1_-800T/C	The results further support the role of DRD1 as a susceptibility gene for BP type I	Positive	Comment on Study
Ni, X.,2002	Haplotype: (DRD1_-800T/C) - (DRD1_-48A/G) - (DRD1_1403T/C)() Other variant: DRD1_1403T/C, DRD1_-48A/G, DRD1_-800T/C	These results indicate that DRD1 may play a role in the etiology of bipolar disorder.	Positive	Comment on Study
Severino, G.,2005	Other variant: DRD1_-48A/G	In conclusion, in spite of the small size of the sample examined and the need of replication in other types of population, our study suggests that the D1 receptor gene may play a role in the etiology of BP I disorder.	Positive	Comment on Study
Fallin, M. D.,2005		2 SNP typed, Median D'=1, Median r<sup>2</sup> =0.99, 1 LD blocks, 0.36 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA... This gene is not suggestive to BP.	Negative	Comment on Study
Nothen, M. M., 1992	Other variant: DRD1_EcoRI Polymorphism	EcoRI RFLP for DRD1 : X<sup>2</sup> = 0.17, p-value = 0.68; . The results of this study do not support the hypothesis that a single mutant form of either the dopamine D1 or the dopamine D2 receptor gene is responsible for the phenotype of all or an appreciable proportion of patients from the general population who are suffering from bipolar affective disorder.	Negative	Comment on Study
Mitchell, P.,1992	Other variant: DRD1_RFLP	This study excluded close linkage between the DRDl , DRD2 and bipolar disorder.	Negative	Comment on Study
Yao, J., 2013	SNP: rs4532	Although our study had the a fore-mentioned limitations, we reported that the GG genotype of rs4532 locus in DRD1 gene was associated with an increased risk of bipolar disorder.	Positive	Comment on Study
Zhang, J., 2013	SNP: rs4532	Meta-analysis shows dopamine receptor D1 gene polymorphism is associated with bipolar disorder but not with schizophrenia.	Positive	Comment on Study
Dmitrzak-Weglarz, M., 2006	Other variant: DRD1_-48A/G	The main finding of this study is an association trend of the G/G genotype and G allele with illness in the whole group of bipolar affective disorder patients and a significant association in the subgroup of patients with bipolar disorder type II. After division by gender, this was particularly evident in female patients.	Positive	Comment on Study
Savoye, C., 1998	Other variant: D1_EcoR1, D1_Taq1	Single mutations of either of the studied receptor genes are not major determinants of MDI.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 58)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IDA[11500503]; TAS	360
GO:0004952	dopamine neurotransmitter receptor activity	molecular function	IDA[1831904]	3
GO:0005634	nucleus	cellular component	IEA	283
GO:0005887	integral component of plasma membrane	cellular component	IBA; IC[2144334]	158

GO terms by database search (count: 54)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0021756	striatum development	biological process	IEA	3
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	biological process	IDA[11500503]	11
GO:0001661	conditioned taste aversion	biological process	IEA	4
GO:0019228	neuronal action potential	biological process	IEA	11
GO:0060134	prepulse inhibition	biological process	ISS	8
GO:0001662	behavioral fear response	biological process	IEA	16
GO:0048148	behavioral response to cocaine	biological process	IEA	7
GO:0007628	adult walking behavior	biological process	ISS	9
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	biological process	IDA[1282671]	3
GO:0006606	protein import into nucleus	biological process	IEA	3
GO:0010579	positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway	biological process	IBA	16
GO:0046959	habituation	biological process	IEA	1
GO:0030819	positive regulation of cAMP biosynthetic process	biological process	IDA[1282671]	5
GO:0015872	dopamine transport	biological process	IEA	4
GO:0007625	grooming behavior	biological process	IEA	5
GO:0046323	glucose import	biological process	IEA	1
GO:0060158	phospholipase C-activating dopamine receptor signaling pathway	biological process	IDA[1282671]; IGI[17194762]	3
GO:0051968	positive regulation of synaptic transmission, glutamatergic	biological process	ISS	8
GO:0071870	cellular response to catecholamine stimulus	biological process	IDA[18403039]	3
GO:0051482	positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway	biological process	IDA[1282671]	6
GO:0030335	positive regulation of cell migration	biological process	ISS	16
GO:0021542	dentate gyrus development	biological process	IEA	2
GO:0007416	synapse assembly	biological process	ISS	8
GO:0043268	positive regulation of potassium ion transport	biological process	ISS	6
GO:0042417	dopamine metabolic process	biological process	IC[8301582]	7
GO:0007612	learning	biological process	IBA	18
GO:0042311	vasodilation	biological process	IEA	6
GO:0042493	response to drug	biological process	ISS	57
GO:0005515	protein binding	molecular function	IPI[15569306]	563
GO:0019226	transmission of nerve impulse	biological process	ISS	7
GO:0008542	visual learning	biological process	ISS	17
GO:0030432	peristalsis	biological process	IEA	5
GO:0051584	regulation of dopamine uptake involved in synaptic transmission	biological process	IC[8301582]	4
GO:0035240	dopamine binding	molecular function	IMP[1282671]	7
GO:0001975	response to amphetamine	biological process	IEA	19
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	biological process	IDA[18403039]	5
GO:0021853	cerebral cortex GABAergic interneuron migration	biological process	ISS	2
GO:0001588	dopamine neurotransmitter receptor activity, coupled via Gs	molecular function	IDA[2144334]; IMP[1282671]	2
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	biological process	IDA[1282671]	17
GO:0046960	sensitization	biological process	IEA	2
GO:0007617	mating behavior	biological process	ISS	4
GO:0014002	astrocyte development	biological process	IEA	3
GO:0008227	G-protein coupled amine receptor activity	molecular function	IBA	4
GO:0007606	sensory perception of chemical stimulus	biological process	IBA	14
GO:0001963	synaptic transmission, dopaminergic	biological process	IBA	8
GO:0035106	operant conditioning	biological process	IEA	2
GO:0007190	activation of adenylate cyclase activity	biological process	IDA[2168520]	12
GO:0042053	regulation of dopamine metabolic process	biological process	IEA	6
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	52
GO:0001659	temperature homeostasis	biological process	IEA	4
GO:0060292	long term synaptic depression	biological process	IEA	5
GO:0007613	memory	biological process	IEA	22
GO:0060291	long-term synaptic potentiation	biological process	IEA	14
GO:0042711	maternal behavior	biological process	IEA	5

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04540	Gap junction	15
hsa04020	Calcium signaling pathway	53

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
ck1Pathway	Regulation of ck1/cdk5 by type 1 glutamate receptors	6

Gene related interactors from protein-protein interactions data in HPRD (count: 10)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
DRD1	CALY	NO	in vitro;in vivo;yeast 2-hybrid	11583808 , 10698743
DRD1	ADORA1	NO	in vivo	10890919
DRD1	ADA	NO	in vitro	12150791
DRD1	COPG2	NO	in vitro;in vivo	11893085
DRD1	GRIN1	YES	in vitro;in vivo	12408866
DRD1	DNAJC14	NO	in vitro;yeast 2-hybrid	11331877 , 14993367
DRD1	FLNA	NO	in vitro;yeast 2-hybrid	10692483
DRD1	COPG	NO	in vitro;in vivo	11893085
DRD1	EPB41L2	NO	yeast 2-hybrid	12181426
DRD1	CAV2	NO	in vitro	15569306

Related other genetic factors

Gene related SNPs (count: 10)

Literature-origin SNPs (count: 3)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4532	chr5:175443147 - 175443147(1)	5_prime_UTR_variant	2(2/0/0)
rs2453737	chr5:175431899 - 175431899(1)		1(1/0/0)
rs2168631	chr5:175448999 - 175448999(1)	upstream_gene_variant	1(1/0/0)

LD-proxies (count: 7)

rs_ID	Location	Functional Annotation
rs265978	chr5:175436902 - 175436902(1)	downstream_gene_variant
rs686	chr5:175441697 - 175441697(1)	3_prime_UTR_variant
rs11749676	chr5:175439295 - 175439295(1)	downstream_gene_variant
rs11747886	chr5:175437204 - 175437204(1)	downstream_gene_variant
rs265981	chr5:175443899 - 175443899(1)	5_prime_UTR_variant
rs11746641	chr5:175439088 - 175439088(1)	downstream_gene_variant
rs4867797	chr5:175438611 - 175438611(1)	downstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 7)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
DRD1_-800T/C	point mutation	2 (1/1/0)
DRD1_-48A/G	point mutation	5 (3/2/0)
DRD1_1403T/C	point mutation	2 (1/1/0)
D1_Taq1	SNP	1 (0/1/0)
D1_EcoR1	SNP	1 (0/1/0)
DRD1_RFLP	SNP	1 (0/1/0)
DRD1_EcoRI Polymorphism	SNP	1 (0/1/0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 4)

Reference	Description	Result Category
24001587	No significant association was reported.	Negative
16397404	In this study, we did not find an association between the Dde I polymorphism of the DRD1 gene and schizophrenia in a Polish sample, neither in the whole group of patients nor in subgroups divided by gender, age at onset or predominance of positive or negative symptoms.	Negative
23900723	Meta-analysis shows dopamine receptor D1 gene polymorphism is associated with bipolar disorder but not with schizophrenia.	Negative
16380905	This gene is not suggestive to SZ/SZA.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 14)

Reference	ID in SZGene	Result Category
8837716	325	Negative
16397404	325	Negative
8874845	325	Negative
12497608	325	Negative
16380905	325	Negative
7485254	325	Negative
20382433	325	Negative
10206227	325	Negative
18045777	325	Negative
20016224	325	Negative
20127886	325	Positive
7893850	325	Negative
15635698	325	Negative
7911585	325	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
15927089	SNPs in CCKAR, DRD1, DRD2, and HTR2C genes showed nominally significant associations with MDD.	Pos	DRD1

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Region: chr5:175440039..175444208 View in gBrowse