Gene Report

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Basic Info

Approved Symbol	PPFIA1
Symbol Alias	LIP.1, LIPRIN
Approved Name	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
Name Alias	Liprin-alpha1
Location	11q13.3
Position	chr11:70270700-70384403, 1
External Links	HGNC: 9245 Entrez Gene: 8500 Ensembl: ENSG00000131626 UCSC: uc001opo.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Noor A., 2014		Selected stringent CNV related to this gene is validated by qPCR from BD case data.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0004871	signal transducer activity	molecular function	TAS[7796809]	32

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007160	cell-matrix adhesion	biological process	TAS[7796809]	11
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0090005	negative regulation of establishment of protein localization to plasma membrane	biological process	IMP[22266902]	2
GO:0014047	glutamate secretion	biological process	TAS	6
GO:0051497	negative regulation of stress fiber assembly	biological process	IMP[22266902]	2
GO:0005829	cytosol	cellular component	TAS	223
GO:0007269	neurotransmitter secretion	biological process	TAS	15
GO:0005515	protein binding	molecular function	IPI[11931740]	563
GO:0007165	signal transduction	biological process	TAS[7796809]	136
GO:0005925	focal adhesion	cellular component	IDA	32
GO:0048786	presynaptic active zone	cellular component	TAS[15217342]	5

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 15)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PPFIA1	NCOA2	NO	in vitro;in vivo;yeast 2-hybrid	11931740
PPFIA1	CAST	NO	in vitro;in vivo;yeast 2-hybrid	12923177
PPFIA1	PPFIA2	NO	in vitro;in vivo	9624153
PPFIA1	PTPRS	NO	in vitro	8524829 , 9624153
PPFIA1	AGTPBP1	NO	yeast 2-hybrid	16713569
PPFIA1	GIT1	NO	in vitro;in vivo;yeast 2-hybrid	12629171
PPFIA1	TNNT1	NO	yeast 2-hybrid	16189514
PPFIA1	YWHAG	NO	in vivo	15324660
PPFIA1	PTPRC	YES	in vitro	9624153
PPFIA1	PPFIA3	NO	in vitro	9624153
PPFIA1	PPFIBP2	NO	in vitro;in vivo	9624153
PPFIA1	PTPRF	NO	in vitro;in vivo;yeast 2-hybrid	8524829 , 7796809 , 9624153
PPFIA1	PPFIBP1	NO	in vitro;in vivo	9624153
PPFIA1	ERC1	NO	in vitro;in vivo	12923177
PPFIA1	MBIP	NO	yeast 2-hybrid	16189514

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Abdul Noor[2014]_33	chr11:69878242-70154458 (NCBI Build 36/hg18)	276000	11q13.3	duplication

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 11	chr11:0-135086622	2 (0/2/0)
11q14.3-11q21	chr11:22000000-97400000	1 (0/0/1)
11p13-q13.3	chr11:31000000-70500000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr11:70270700..70384403 View in gBrowse