Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	221692
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphatase and actin regulator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PHACTR1
Synonyms (NCBI Gene) Gene synonyms aliases	DEE70, EIEE70, RPEL, RPEL1, dJ257A7.2
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p24.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cel

Show/Hide all(60)

miRTarBase ID	miRNA	Experiments
MIRT1228763	hsa-miR-196a	CLIP-seq
MIRT1228764	hsa-miR-196b	CLIP-seq
MIRT1228765	hsa-miR-2861	CLIP-seq
MIRT1228766	hsa-miR-3064-5p	CLIP-seq
MIRT1228767	hsa-miR-3124-3p	CLIP-seq
MIRT1228768	hsa-miR-3127-3p	CLIP-seq
MIRT1228769	hsa-miR-3649	CLIP-seq
MIRT1228770	hsa-miR-3652	CLIP-seq
MIRT1228771	hsa-miR-3679-3p	CLIP-seq
MIRT1228772	hsa-miR-370	CLIP-seq
MIRT1228773	hsa-miR-371-3p	CLIP-seq
MIRT1228774	hsa-miR-371b-3p	CLIP-seq
MIRT1228775	hsa-miR-3913-3p	CLIP-seq
MIRT1228776	hsa-miR-425	CLIP-seq
MIRT1228777	hsa-miR-4425	CLIP-seq
MIRT1228778	hsa-miR-4430	CLIP-seq
MIRT1228779	hsa-miR-4505	CLIP-seq
MIRT1228780	hsa-miR-450b-3p	CLIP-seq
MIRT1228781	hsa-miR-4530	CLIP-seq
MIRT1228782	hsa-miR-4648	CLIP-seq
MIRT1228783	hsa-miR-4731-5p	CLIP-seq
MIRT1228784	hsa-miR-4763-5p	CLIP-seq
MIRT1228785	hsa-miR-4787-5p	CLIP-seq
MIRT1228786	hsa-miR-4795-5p	CLIP-seq
MIRT1228787	hsa-miR-4799-5p	CLIP-seq
MIRT1228788	hsa-miR-489	CLIP-seq
MIRT1228789	hsa-miR-515-3p	CLIP-seq
MIRT1228790	hsa-miR-519e	CLIP-seq
MIRT1228791	hsa-miR-550a	CLIP-seq
MIRT1228792	hsa-miR-586	CLIP-seq
MIRT1228793	hsa-miR-634	CLIP-seq
MIRT1228794	hsa-miR-769-3p	CLIP-seq
MIRT1228763	hsa-miR-196a	CLIP-seq
MIRT1228764	hsa-miR-196b	CLIP-seq
MIRT1228765	hsa-miR-2861	CLIP-seq
MIRT1228766	hsa-miR-3064-5p	CLIP-seq
MIRT1228769	hsa-miR-3649	CLIP-seq
MIRT1228770	hsa-miR-3652	CLIP-seq
MIRT1228772	hsa-miR-370	CLIP-seq
MIRT1228773	hsa-miR-371-3p	CLIP-seq
MIRT1228774	hsa-miR-371b-3p	CLIP-seq
MIRT1228778	hsa-miR-4430	CLIP-seq
MIRT1228779	hsa-miR-4505	CLIP-seq
MIRT1228782	hsa-miR-4648	CLIP-seq
MIRT1228783	hsa-miR-4731-5p	CLIP-seq
MIRT1228784	hsa-miR-4763-5p	CLIP-seq
MIRT1228786	hsa-miR-4795-5p	CLIP-seq
MIRT1228789	hsa-miR-515-3p	CLIP-seq
MIRT1228790	hsa-miR-519e	CLIP-seq
MIRT1228791	hsa-miR-550a	CLIP-seq
MIRT1228793	hsa-miR-634	CLIP-seq
MIRT1228772	hsa-miR-370	CLIP-seq
MIRT1228769	hsa-miR-3649	CLIP-seq
MIRT1228782	hsa-miR-4648	CLIP-seq
MIRT1228786	hsa-miR-4795-5p	CLIP-seq
MIRT1228769	hsa-miR-3649	CLIP-seq
MIRT1228781	hsa-miR-4530	CLIP-seq
MIRT1228782	hsa-miR-4648	CLIP-seq
MIRT1228786	hsa-miR-4795-5p	CLIP-seq
MIRT1228793	hsa-miR-634	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IBA
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0004864	Function	Protein phosphatase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0031032	Process	Actomyosin structure organization	IEA
GO:0031032	Process	Actomyosin structure organization	IMP	22976292
GO:0043149	Process	Stress fiber assembly	IBA
GO:0043149	Process	Stress fiber assembly	IEA
GO:0043149	Process	Stress fiber assembly	IMP	22976292
GO:0045202	Component	Synapse	IEA
GO:0048870	Process	Cell motility	IBA
GO:0048870	Process	Cell motility	IMP	22976292
GO:0140059	Process	Dendrite arborization	IEA
GO:0140059	Process	Dendrite arborization	ISS
GO:2001222	Process	Regulation of neuron migration	IEA
GO:2001222	Process	Regulation of neuron migration	ISS

MIM	HGNC	e!Ensembl
608723	20990	ENSG00000112137

Protein

UniProt ID

Q9C0D0

Protein name

Phosphatase and actin regulator 1

Protein function

Binds actin monomers (G actin) and plays a role in multiple processes including the regulation of actin cytoskeleton dynamics, actin stress fibers formation, cell motility and survival, formation of tubules by endothelial cells, and regulation o

PDB

6ZEE , 6ZEF , 6ZEG , 6ZEH , 6ZEI , 6ZEJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02755	RPEL	139 → 161	RPEL repeat	Disordered
PF02755	RPEL	423 → 446	RPEL repeat	Disordered
PF02755	RPEL	461 → 484	RPEL repeat	Disordered
PF02755	RPEL	499 → 520	RPEL repeat	Disordered

Tissue specificity

TISSUE SPECIFICITY: Detected in umbilical vein endothelial cells. {ECO:0000269|PubMed:21939755}.

Sequence

MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPI
RRVRSKSDTPYLAEARISFNLGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIF
KPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLKEIYDKDGELSISNEEDSLEN
GQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPL
PPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTT
GSLPMHPSGCRMIDELNKTLAMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLP
EIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYTSSLAMKVCR
KDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNI
LKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILIRFSDYVEVADAQDYDRRADK
PWTRLTAADKAAIRKELNEFKSTEMEVHELSRHLTRFHRP

Sequence length

580

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 70	rs1562114406, rs1562103192	N/A

Show/Hide Unknown Diseases (10)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Coronary Heart Disease	Coronary heart disease	N/A	N/A	GWAS
Fibromuscular Dysplasia	Fibromuscular dysplasia	N/A	N/A	GWAS
Heart Failure	Heart failure	N/A	N/A	GWAS
Hypertension	Hypertension	N/A	N/A	GWAS
Infantile Spasms	infantile spasms	N/A	N/A	GenCC
Insomnia	Insomnia	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
Restless Legs Syndrome	Restless legs syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Atherosclerosis	Associate	27187934, 29884117, 36364780
Breast Neoplasms	Associate	23479725
Cardiovascular Diseases	Associate	27893421
Carotid Artery Injuries	Associate	32374345
Cerebrovascular Disorders	Associate	32374345
Coronary Artery Disease	Associate	22745674, 23394302, 23561647, 25838425, 25938970, 26086777, 26982883, 27187934, 27517945, 27893421, 28753427, 29884117, 30621952, 32374345, 34241534 View all (4 more)
Coronary Artery Disease Autosomal Dominant 1	Associate	25838425
Coronary Artery Dissection Spontaneous	Associate	30621952, 31707208, 32374345, 32887874, 33319763
Coronary Disease	Associate	22152955, 23394302, 31972008
Coronary Restenosis	Associate	36814994
Coronary Stenosis	Associate	22745674
Death	Associate	26086777
Diabetes Mellitus	Associate	36814994
Disease	Associate	36364780
Dissection Blood Vessel	Associate	25420145, 28753427
Essential Hypertension	Associate	34758666
Fibromuscular Dysplasia	Associate	28753427, 30621952
HIV Infections	Associate	26039976
Hypertension	Associate	28753427
Inflammation	Associate	27187934
Microvascular Angina	Associate	31972008
Migraine Disorders	Associate	24674449, 25420145, 28753427, 28957430
Myocardial Infarction	Associate	25420145, 25838425, 26086777
Myocardial Ischemia	Associate	32942043
Plaque Atherosclerotic	Associate	27187934, 29884117
Pneumonia	Associate	27508494
ST Elevation Myocardial Infarction	Associate	26086777
Vascular Calcification	Associate	23561647, 40057183
Vascular Diseases	Associate	28753427, 30621952

PHACTR1 (phosphatase and actin regulator 1)