2. Gene
  3. PHACTR1 - phosphatase and actin regulator 1 Gene

PHACTR1 - phosphatase and actin regulator 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence Reference Source
involved in actomyosin structure organization IMP
IMP: Inferred from mutant phenotype
22976292 GOA
involved in cell motility IMP
IMP: Inferred from mutant phenotype
22976292 GOA
involved in stress fiber assembly IMP
IMP: Inferred from mutant phenotype
22976292 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PHACTR1 Protein Structure

RPEL

RPEL: RPEL repeat (139 - 161)

RPEL

RPEL: RPEL repeat (422 - 446)

RPEL

RPEL: RPEL repeat (461 - 485)

RPEL

RPEL: RPEL repeat (499 - 521)

  • 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 Pre-designed Sets / 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