Gene Report

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Basic Info

Approved Symbol	DIAPH1
Previous Symbol	DFNA1
Symbol Alias	hDIA1, LFHL1
Approved Name	diaphanous-related formin 1
Previous Name	diaphanous (Drosophila, homolog) 1, "diaphanous homolog 1 (Drosophila)"
Location	5q31
Position	chr5:141515016-141619055, -1
External Links	HGNC: 2876 Entrez Gene: 1729 Ensembl: ENSG00000131504 UCSC: uc003llb.4
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
Drago, A., 2016		Freq(Significant SNPs/total SNPs%)=0.04. This gene encodes for a poteind required for the assembly of F-actin structures. May as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration and it seem to have a neurite outgrowth promoting activity.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031175	neuron projection development	biological process	IEA	10
GO:0017048	Rho GTPase binding	molecular function	IEA	4
GO:0003779	actin binding	molecular function	IEA	24
GO:0005102	receptor binding	molecular function	NAS[9360932]	37

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0032886	regulation of microtubule-based process	biological process	IMP[20937854]	4
GO:0071420	cellular response to histamine	biological process	IMP[15123714]	5
GO:0030041	actin filament polymerization	biological process	IEA	4
GO:0043005	neuron projection	cellular component	IEA	38
GO:0005515	protein binding	molecular function	IPI[18218625]	563
GO:0007010	cytoskeleton organization	biological process	IMP[21834987]	11
GO:0032587	ruffle membrane	cellular component	IEA	4
GO:0044822	poly(A) RNA binding	molecular function	IDA[22658674]	44
GO:0042802	identical protein binding	molecular function	IEA	44
GO:0008360	regulation of cell shape	biological process	IMP[21834987]	16
GO:0007605	sensory perception of sound	biological process	IEA	18
GO:0051279	regulation of release of sequestered calcium ion into cytosol	biological process	IMP[15123714]	3
GO:0072686	mitotic spindle	cellular component	IDA[15123714]	2
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0005522	profilin binding	molecular function	IEA	2
GO:0035372	protein localization to microtubule	biological process	IMP[15123714]	2
GO:0044325	ion channel binding	molecular function	IPI[15123714]	14
GO:0030335	positive regulation of cell migration	biological process	IEA	16

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04510	Focal adhesion	22

ID	Name	No. of Genes in BDgene	Brief Description
hsa04810	Regulation of actin cytoskeleton	24

Gene related BioCarta pathways (count: 3)

ID	Name	No. of Genes in BDgene
malPathway	Role of MAL in Rho-Mediated Activation of SRF	2
rhoPathway	Rho cell motility signaling pathway	3
ecmPathway	Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia	4

Gene related interactors from protein-protein interactions data in HPRD (count: 9)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
DIAPH1	PAX6	NO	in vitro;in vivo;yeast 2-hybrid	12324464
DIAPH1	CENPA	NO	yeast 2-hybrid	15085137
DIAPH1	RHOC	NO	in vitro	15864301
DIAPH1	RHOA	NO	in vitro	16109481 , 15864301
DIAPH1	XPO6	NO	in vitro	14592989
DIAPH1	BAIAP2	NO	in vitro;yeast 2-hybrid	10814512
DIAPH1	PKD2	NO	in vivo	15123714
DIAPH1	PRPF40A	NO	yeast 2-hybrid	15231748
DIAPH1	CDC7	NO	in vitro	12065429

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5q31-q33	chr5:131200000-160500000	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr5:141515016..141619055 View in gBrowse