PHACTR1 - phosphatase and actin regulator 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 221692

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References 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

PHACTR1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PHACTR1 Q9C0D0 CBX8 Homo sapiens Q9HC52
Validated Y2H
32296183
Intra
PHACTR1 Q9C0D0 C14orf119 Homo sapiens Q9NWQ9
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set / 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
Others PHACTR1 NCBI