PHACTR1 - phosphatase and actin regulator 1 Gene

Homo sapiens

Also known as RPEL; DEE70; RPEL1; EIEE70; dJ257A7.2

Gene ID: 221692 | Gene type: protein coding

About PHACTR1

Cytogenetic location: 6p24.1 Genomic coordinates (GRCh38): 6:12,716,767-13,287,837 (from NCBI)

This gene has 27 transcripts (splice variants), 302 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 12.6), bone marrow (RPKM 5.8) and 12 other tissues.

Summary

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 cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

PHACTR1 Products(13)

mRNA	Protein	Name
NM_001242648.4	NP_001229577.1	phosphatase and actin regulator 1 isoform a
NM_001322308.3	NP_001309237.1	phosphatase and actin regulator 1 isoform a
NM_001322309.3	NP_001309238.1	phosphatase and actin regulator 1 isoform a
NM_001322310.2	NP_001309239.1	phosphatase and actin regulator 1 isoform b
NM_001322311.2	NP_001309240.1	phosphatase and actin regulator 1 isoform c
NM_001322312.3	NP_001309241.1	phosphatase and actin regulator 1 isoform c
NM_001322313.2	NP_001309242.1	phosphatase and actin regulator 1 isoform d
NM_001322314.4	NP_001309243.1	phosphatase and actin regulator 1 isoform e
NM_001374581.2	NP_001361510.1	phosphatase and actin regulator 1 isoform f
NM_001374582.1	NP_001361511.1	phosphatase and actin regulator 1 isoform g
NM_001374583.2	NP_001361512.1	phosphatase and actin regulator 1 isoform h
NM_001374584.1	NP_001361513.1	phosphatase and actin regulator 1 isoform i
NM_030948.6	NP_112210.1	phosphatase and actin regulator 1 isoform a

PHACTR1 Protein Structure

RPEL

0
100
200
300
400
500
580 a.a.

Protein Preferred Names

Protein Names

phosphatase and actin regulator 1

RPEL repeat containing 1

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 70

DEE70	Epileptic Encephalopathy, Early Infantile, 70
Eiee70	Developmental And Epileptic Encephalopathy, 70
Early Infantile Epileptic Encephalopathy 70	Encephalopathy, Epileptic, Early Infantile, Type 70

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Fibromuscular Dysplasia

Migraine Without Aura

Common Migraine	Migraine With Or Without Aura, Susceptibility To
Migraine Without Aura, Susceptibility To	Acute Migraine Without Aura

Myocardial Infarction

Heart Attack	Myocardial Infarction, Susceptibility To
Myocardial Infarction 1	Myocardial Infarction, Protection Against
Myocardial Infarction, Decreased Susceptibility To	Myocardial Infarction, Decreased
Myocardial Infarct	MCI1
Premature Myocardial Infarction	Myocardial Infarction, Susceptibility To, Type 1

Carotid Artery Dissection

Dissection Of Carotid Artery

Gallbladder Melanoma

Malignant Melanoma Of Gallbladder

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Migraine With Or Without Aura 1

Migraine	Migraine With Or Without Aura, Susceptibility To, 1
Migraine Disorder	Migraine Variant
Migraines	Migraine Disorders
Mgr1	Mgau
Ma	Migraine With Or Without Aura
Classic Migraine	Common Migraine
Disorder, Migraine	Headache Migraine
Headache Migrainous	Migraine Headache
Migraine Syndrome	Headache Including Migraine
Migraine, Susceptibility To

Moyamoya Disease 1

Moyamoya Disease	Spontaneous Occlusion Of The Circle Of Willis
Mymy	Progressive Intracranial Arterial Occlusion
Moyamoya Syndrome	MYMY1
Cerebrovascular Moyamoya Disease	Moya-Moya Disease
Progressive Intracranial Occlusive Arteropathy	Idiopathic Moyamoya Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10402	PHACTR1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PHACTR1	VGNC	VGNC:64128
Mus musculus	PHACTR1	MGD	MGI:2659021
Canis familiaris	PHACTR1	VGNC	VGNC:49769
Rattus norvegicus	PHACTR1	RGD	RGD:1303187
Macaca mulatta	PHACTR1	VGNC	VGNC:75841
Bos taurus	PHACTR1	VGNC	VGNC:32804

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