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Aliases for PHACTR1 Gene

Aliases for PHACTR1 Gene

  • Phosphatase And Actin Regulator 1 2 3 5
  • RPEL Repeat Containing 1 2 3
  • RPEL1 3 4
  • DJ257A7.2 3
  • KIAA1733 4
  • RPEL 3

External Ids for PHACTR1 Gene

Previous HGNC Symbols for PHACTR1 Gene

  • RPEL1

Previous GeneCards Identifiers for PHACTR1 Gene

  • GC06P012826
  • GC06P012827

Summaries for PHACTR1 Gene

Entrez Gene Summary for PHACTR1 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 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]

GeneCards Summary for PHACTR1 Gene

PHACTR1 (Phosphatase And Actin Regulator 1) is a Protein Coding gene. Diseases associated with PHACTR1 include artery disease and coronary artery disease. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include actin binding and protein phosphatase 1 binding. An important paralog of this gene is PHACTR4.

UniProtKB/Swiss-Prot for PHACTR1 Gene

  • Binds actin monomers (G actin) and plays a role in the reorganization of the actin cytoskeleton and in formation of actin stress fibers. Plays a role in cell motility. Plays a role in the formation of tubules by endothelial cells. Regulates PPP1CA activity. Required for normal cell survival.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHACTR1 Gene

Genomics for PHACTR1 Gene

Regulatory Elements for PHACTR1 Gene

Genomic Location for PHACTR1 Gene

Chromosome:
6
Start:
12,716,606 bp from pter
End:
13,290,484 bp from pter
Size:
573,879 bases
Orientation:
Plus strand

Genomic View for PHACTR1 Gene

Genes around PHACTR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHACTR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHACTR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHACTR1 Gene

Proteins for PHACTR1 Gene

  • Protein details for PHACTR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0D0-PHAR1_HUMAN
    Recommended name:
    Phosphatase and actin regulator 1
    Protein Accession:
    Q9C0D0
    Secondary Accessions:
    • A8K1V2
    • Q3MJ93
    • Q5JSJ2

    Protein attributes for PHACTR1 Gene

    Size:
    580 amino acids
    Molecular mass:
    66308 Da
    Quaternary structure:
    • Interacts (via RPEL repeats) with ACTA1 and PPP1CA; ACTA1 and PPP1CA compete for the same binding site.
    SequenceCaution:
    • Sequence=BAB21824.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for PHACTR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHACTR1 Gene

Proteomics data for PHACTR1 Gene at MOPED

Post-translational modifications for PHACTR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for PHACTR1

No data available for DME Specific Peptides for PHACTR1 Gene

Domains & Families for PHACTR1 Gene

Gene Families for PHACTR1 Gene

Protein Domains for PHACTR1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9C0D0

UniProtKB/Swiss-Prot:

PHAR1_HUMAN :
  • Binds three actin monomers via the three C-terminal RPEL repeats.
  • Belongs to the phosphatase and actin regulator family.
  • Contains 4 RPEL repeats.
Domain:
  • Binds three actin monomers via the three C-terminal RPEL repeats.
Family:
  • Belongs to the phosphatase and actin regulator family.
Similarity:
  • Contains 4 RPEL repeats.
genes like me logo Genes that share domains with PHACTR1: view

Function for PHACTR1 Gene

Molecular function for PHACTR1 Gene

UniProtKB/Swiss-Prot Function:
Binds actin monomers (G actin) and plays a role in the reorganization of the actin cytoskeleton and in formation of actin stress fibers. Plays a role in cell motility. Plays a role in the formation of tubules by endothelial cells. Regulates PPP1CA activity. Required for normal cell survival.
UniProtKB/Swiss-Prot Induction:
Up-regulated by VEGFA.
genes like me logo Genes that share phenotypes with PHACTR1: view

Animal Model Products

CRISPR Products

miRNA for PHACTR1 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHACTR1 Gene

Localization for PHACTR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHACTR1 Gene

Cytoplasm. Cell junction, synapse. Nucleus. Note=Enriched at synapses (By similarity). Cytoplasmic in resting cells, and is imported into the nucleus upon serum stimulation. Interaction with actin prevents nuclear import (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PHACTR1 Gene COMPARTMENTS Subcellular localization image for PHACTR1 gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PHACTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with PHACTR1: view

Pathways & Interactions for PHACTR1 Gene

genes like me logo Genes that share pathways with PHACTR1: view

Pathways by source for PHACTR1 Gene

Interacting Proteins for PHACTR1 Gene

Gene Ontology (GO) - Biological Process for PHACTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043086 negative regulation of catalytic activity IEA --
GO:0048870 cell motility IMP 22976292
genes like me logo Genes that share ontologies with PHACTR1: view

No data available for SIGNOR curated interactions for PHACTR1 Gene

Drugs & Compounds for PHACTR1 Gene

No Compound Related Data Available

Transcripts for PHACTR1 Gene

Unigene Clusters for PHACTR1 Gene

Phosphatase and actin regulator 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PHACTR1 Gene

No ASD Table

Relevant External Links for PHACTR1 Gene

GeneLoc Exon Structure for
PHACTR1
ECgene alternative splicing isoforms for
PHACTR1

Expression for PHACTR1 Gene

mRNA expression in normal human tissues for PHACTR1 Gene

mRNA differential expression in normal tissues according to GTEx for PHACTR1 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.6) and Brain - Frontal Cortex (BA9) (x4.2).

Protein differential expression in normal tissues from HIPED for PHACTR1 Gene

This gene is overexpressed in Frontal cortex (33.6) and Brain (30.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PHACTR1 Gene



SOURCE GeneReport for Unigene cluster for PHACTR1 Gene Hs.436996

mRNA Expression by UniProt/SwissProt for PHACTR1 Gene

Q9C0D0-PHAR1_HUMAN
Tissue specificity: Detected in umbilical vein endothelial cells.
genes like me logo Genes that share expression patterns with PHACTR1: view

Protein tissue co-expression partners for PHACTR1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PHACTR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PHACTR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHACTR1 36
  • 99 (a)
OneToOne
PHACTR1 35
  • 99.54 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia PHACTR1 35
  • 92.93 (n)
  • 97.07 (a)
dog
(Canis familiaris)
Mammalia PHACTR1 35
  • 92.64 (n)
  • 96.2 (a)
mouse
(Mus musculus)
Mammalia Phactr1 35
  • 88.85 (n)
  • 96.21 (a)
Phactr1 16
oppossum
(Monodelphis domestica)
Mammalia PHACTR1 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHACTR1 36
  • 36 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phactr1 35
  • 90.06 (n)
  • 97.24 (a)
chicken
(Gallus gallus)
Aves PHACTR1 35
  • 79.46 (n)
  • 85.78 (a)
PHACTR1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phactr1 35
  • 74.67 (n)
  • 81.05 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100334776 35
  • 59.83 (n)
  • 59.75 (a)
Species with no ortholog for PHACTR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PHACTR1 Gene

ENSEMBL:
Gene Tree for PHACTR1 (if available)
TreeFam:
Gene Tree for PHACTR1 (if available)

Paralogs for PHACTR1 Gene

Paralogs for PHACTR1 Gene

genes like me logo Genes that share paralogs with PHACTR1: view

Variants for PHACTR1 Gene

Sequence variations from dbSNP and Humsavar for PHACTR1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs17602409 - 13,205,891(+) ATGAT(C/G/T)TGTAT reference, missense
VAR_069379 -
rs175729 -- 13,240,912(-) cggcc(A/G)ccttg intron-variant
rs182148 -- 13,267,315(+) AAACA(A/G)GTCTT intron-variant
rs202073 -- 13,268,373(+) ATCAT(A/G)GTTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PHACTR1 Gene

Variant ID Type Subtype PubMed ID
dgv84n68 CNV Loss 17160897
esv2666863 CNV Deletion 23128226
nsv5202 CNV Loss 18451855
esv2659034 CNV Deletion 23128226
nsv5203 CNV Insertion 18451855
nsv509118 CNV Insertion 20534489
nsv511118 CNV Complex 20534489
esv996531 CNV Insertion 20482838
esv2731599 CNV Deletion 23290073
nsv507319 CNV Insertion 20534489
nsv883450 CNV Loss 21882294
nsv5204 CNV Insertion 18451855
esv267579 CNV Insertion 20981092
esv27395 CNV Loss 19812545
esv273116 CNV Insertion 20981092
esv2731600 CNV Deletion 23290073
esv1978352 CNV Deletion 18987734
esv2535563 CNV Deletion 19546169
esv2731601 CNV Deletion 23290073
esv2731602 CNV Deletion 23290073
esv4766 CNV Deletion 18987735
esv1092896 CNV Deletion 17803354
esv2731603 CNV Deletion 23290073
esv2731604 CNV Deletion 23290073

Variation tolerance for PHACTR1 Gene

Gene Damage Index Score: 0.56; 12.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHACTR1 Gene

HapMap Linkage Disequilibrium report
PHACTR1
Human Gene Mutation Database (HGMD)
PHACTR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHACTR1 Gene

Disorders for PHACTR1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PHACTR1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
artery disease
  • arteriopathic disease
coronary artery disease
  • coronary artery anomaly
myocardial infarction
  • myocardial infarction, protection against
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PHACTR1

Genetic Association Database (GAD)
PHACTR1
Human Genome Epidemiology (HuGE) Navigator
PHACTR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHACTR1
genes like me logo Genes that share disorders with PHACTR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHACTR1 Gene

Publications for PHACTR1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 67
  2. Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory proteins. (PMID: 15107502) Allen P.B. … Greengard P. (Proc. Natl. Acad. Sci. U.S.A. 2004) 2 3
  3. Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection. (PMID: 25420145) Debette S. … Dallongeville J. (Nat. Genet. 2015) 3
  4. Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. (PMID: 24262325) Dichgans M. … . (Stroke 2014) 3
  5. Genome-wide meta-analysis identifies new susceptibility loci for migraine. (PMID: 23793025) Anttila V. … . (Nat. Genet. 2013) 3

Products for PHACTR1 Gene

Sources for PHACTR1 Gene

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