Gene Report

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Basic Info

Approved Symbol	PPP1R1B
Symbol Alias	DARPP-32, FLJ20940
Approved Name	protein phosphatase 1, regulatory (inhibitor) subunit 1B
Name Alias	dopamine and cAMP regulated phosphoprotein
Location	17q12
Position	chr17:39626740-39636626, 1
External Links	HGNC: 9287 Entrez Gene: 84152 Ensembl: ENSG00000131771 UCSC: uc002hrz.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Yoshimi, A., 2008	SNP: rs12601930, rs3764352, rs879606, rs907094 Haplotype: rs2271309 - rs12601930 - rs907094 - rs3764352()	Single-marker and haplotypic analyses of four single nucleotide polymorphisms (SNPs; rs879606, rs12601930, rs907094, and rs3764352) in a sample set (subjects with schizophrenia=384, subjects with bipolar disorder=318, control subjects=384) showed that even after Bonferroni corrections, significant associations with bipolar disorder were observed for rs12601930 (corrected genotypic p=0.00059) and rs907094 (corrected allelic p=0.040). We, however, could not confirm these results in a second independent sample set (subjects with bipolar disorder=366, control subjects=370).. Our findings suggest that PPP1R1B SNPs are unlikely to be related to the development of schizophrenia and bipolar disorder in the Japanese population.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IEA	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004864	protein phosphatase inhibitor activity	molecular function	TAS[10604473]	2
GO:0035556	intracellular signal transduction	biological process	IBA	38
GO:0007165	signal transduction	biological process	TAS[10604473]	136
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0005515	protein binding	molecular function	IPI[25416956]	563
GO:0031749	D2 dopamine receptor binding	molecular function	IEA	1
GO:0031748	D1 dopamine receptor binding	molecular function	IEA	5
GO:0008599	protein phosphatase type 1 regulator activity	molecular function	TAS	1
GO:0043086	negative regulation of catalytic activity	biological process	IBA; TAS[10604473]	5
GO:0001975	response to amphetamine	biological process	IEA	19
GO:0004865	protein serine/threonine phosphatase inhibitor activity	molecular function	IBA	2
GO:0004860	protein kinase inhibitor activity	molecular function	TAS[10604473]	2
GO:0007621	negative regulation of female receptivity	biological process	IEA	1
GO:0050790	regulation of catalytic activity	biological process	TAS	11
GO:0031752	D5 dopamine receptor binding	molecular function	IEA	2
GO:0005737	cytoplasm	cellular component	IBA	322
GO:0031751	D4 dopamine receptor binding	molecular function	IEA	1
GO:0043025	neuronal cell body	cellular component	IEA	50
GO:0008542	visual learning	biological process	IEA	17
GO:0006469	negative regulation of protein kinase activity	biological process	TAS[10604473]	7
GO:0031750	D3 dopamine receptor binding	molecular function	IEA	1
GO:0005829	cytosol	cellular component	TAS	223

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
ck1Pathway	Regulation of ck1/cdk5 by type 1 glutamate receptors	6
fosbPathway	FOSB gene expression and drug abuse	1

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PPP1R1B	CSNK2A2	NO	in vitro	2557337
PPP1R1B	PRKACA	NO	in vitro	10604473
PPP1R1B	CSNK2A1	YES	in vitro	2557337
PPP1R1B	PPP1CA	NO	in vitro	9108011
PPP1R1B	DLGAP4	NO	yeast 2-hybrid	16169070
PPP1R1B	CDK5	NO	in vitro;in vivo	10604473
PPP1R1B	ROBO2	YES	yeast 2-hybrid	16169070

Related other genetic factors

Gene related SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs879606	chr17:39625596 - 39625596(1)	downstream_gene_variant; upstream_gene_variant	1(0/1/0)
rs3764352	chr17:39634686 - 39634686(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs12601930	chr17:39633179 - 39633179(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs907094	chr17:39634118 - 39634118(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs10852934		chr17:39626157 - 39626157(1)	downstream_gene_variant; upstream_gene_variant
rs2271309		chr17:39628737 - 39628737(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 6)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17p12-q21.33	chr17:10800000-52100000	1 (0/1/0)
17q12	chr17:33500000-39800000	1 (0/0/1)
17q11-q23	chr17:25100000-64600000	1 (0/1/0)
17q11-25	chr17:25100000-83257441	1 (1/0/0)
17q11-12	chr17:25100000-39800000	1 (0/0/1)
Chr 17	chr17:0-83257441	3 (0/3/0)

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

Gene relationship with SZ

Reference	Description	Result Category
18055181	Our findings suggest that PPP1R1B SNPs are unlikely to be related to the development of schizophrenia and bipolar disorder in the Japanese population.	Negative

Gene relationship with MDD

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Region: chr17:39626740..39636626 View in gBrowse