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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 Deafness, Autosomal Dominant 31. GO annotations related to this gene include actin binding and protein phosphatase 1 binding. An important paralog of this gene is PHACTR3.

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 CIViC summary , 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

Enhancers for PHACTR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G012748 1.1 Ensembl ENCODE 10.5 +33.1 33107 1.5 KLF1 MXI1 ZNF133 RBBP5 RAD21 ZFHX2 ZNF366 SCRT2 SMC3 MAFK RPL15P3 PHACTR1 LOC105374935 LOC105374934
GH06G013258 1.7 FANTOM5 Ensembl ENCODE dbSUPER 6.5 +544.3 544326 4.3 HDGF PKNOX1 TBL1XR1 BMI1 EGR1 CBX5 ZNF207 RELB ETV6 IKZF2 TBC1D7 RNU1-11P ENSG00000215022 PHACTR1 GFOD1 RANBP9 PIR62166 LOC105374933
GH06G012893 1 Ensembl ENCODE 8.6 +177.4 177353 0.6 HNRNPUL1 CTCF PKNOX1 KLF1 MXI1 RAD21 ZBTB48 ZNF143 SMC3 KLF7 PHACTR1 LOC105374934 GC06M012692
GH06G012638 0.8 FANTOM5 10.1 -78.5 -78505 0.1 CTCF JUN INSM2 RAD21 ZEB1 FOSL1 ZBTB48 ZNF366 ZNF143 SMC3 EDN1 PHACTR1 LOC101928309
GH06G012874 0.4 ENCODE 16.3 +158.6 158593 1.0 ZNF316 MAFK PHACTR1 LOC105374934 GC06M012692
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHACTR1 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for PHACTR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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.
Domain:
  • Binds three actin monomers via the three C-terminal RPEL repeats.
Family:
  • Belongs to the phosphatase and actin regulator family.
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.

Gene Ontology (GO) - Molecular Function for PHACTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0004864 protein phosphatase inhibitor activity IEA --
GO:0008157 protein phosphatase 1 binding IEA --
GO:0019888 protein phosphatase regulator activity IEA --
genes like me logo Genes that share ontologies with PHACTR1: view
genes like me logo Genes that share phenotypes with PHACTR1: view

Animal Model Products

CRISPR Products

miRNA for PHACTR1 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHACTR1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PHACTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol ISS --
GO:0030054 cell junction IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with PHACTR1: view

Pathways & Interactions for PHACTR1 Gene

SuperPathways for PHACTR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHACTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031032 actomyosin structure organization IMP 22976292
GO:0031532 actin cytoskeleton reorganization IEA,ISS --
GO:0043086 negative regulation of catalytic activity IEA --
GO:0043149 stress fiber assembly IMP 22976292
GO:0048870 cell motility IMP 22976292
genes like me logo Genes that share ontologies with PHACTR1: view

No data available for Pathways by source and 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for PHACTR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PHACTR1 Gene:

PHACTR1

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.

Evidence on tissue expression from TISSUES for PHACTR1 Gene

  • Nervous system(4.3)
  • Heart(2.6)
genes like me logo Genes that share expression patterns with PHACTR1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PHACTR1 Gene

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 34 35
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia PHACTR1 34
  • 92.93 (n)
dog
(Canis familiaris)
Mammalia PHACTR1 34
  • 92.64 (n)
rat
(Rattus norvegicus)
Mammalia Phactr1 34
  • 90.06 (n)
mouse
(Mus musculus)
Mammalia Phactr1 34 16
  • 88.85 (n)
oppossum
(Monodelphis domestica)
Mammalia PHACTR1 35
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHACTR1 35
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHACTR1 34 35
  • 79.46 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia phactr1 34
  • 74.67 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100334776 34
  • 59.83 (n)
Species where no ortholog for PHACTR1 was found in the sources mined by GeneCards:
  • 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
rs1000004832 -- 12,979,038(+) ATGAT(G/T)GTTGA intron-variant
rs1000008114 -- 13,084,596(+) GGAAG(C/T)AATAA intron-variant
rs1000026902 -- 13,187,100(+) AATGG(C/T)GAGCA intron-variant
rs1000036141 -- 13,225,149(+) TTATC(A/G)GGGCA intron-variant
rs1000048431 -- 12,790,557(+) AGCTC(C/G)TTTAG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv84n68 CNV loss 17160897
esv1092896 CNV deletion 17803354
esv1978352 CNV deletion 18987734
esv2535563 CNV deletion 19546169
esv2659034 CNV deletion 23128226
esv2666863 CNV deletion 23128226
esv2731599 CNV deletion 23290073
esv2731600 CNV deletion 23290073
esv2731601 CNV deletion 23290073
esv2731602 CNV deletion 23290073
esv2731603 CNV deletion 23290073
esv2731604 CNV deletion 23290073
esv27395 CNV loss 19812545
esv2761063 CNV loss 21179565
esv3303299 CNV mobile element insertion 20981092
esv3308843 CNV mobile element insertion 20981092
esv3380767 CNV insertion 20981092
esv3394762 CNV insertion 20981092
esv3407454 CNV insertion 20981092
esv3608117 CNV loss 21293372
esv3608118 CNV loss 21293372
esv3608119 CNV loss 21293372
esv3608120 CNV loss 21293372
esv3608121 CNV loss 21293372
esv3890791 CNV loss 25118596
esv4766 CNV loss 18987735
esv996531 CNV insertion 20482838
nsv1027534 CNV loss 25217958
nsv1073961 CNV deletion 25765185
nsv1073962 CNV deletion 25765185
nsv1074912 CNV deletion 25765185
nsv1124034 CNV deletion 24896259
nsv1126072 CNV deletion 24896259
nsv1128221 CNV deletion 24896259
nsv1131943 CNV deletion 24896259
nsv1131944 CNV deletion 24896259
nsv475091 CNV novel sequence insertion 20440878
nsv476055 CNV novel sequence insertion 20440878
nsv479399 CNV novel sequence insertion 20440878
nsv480113 CNV novel sequence insertion 20440878
nsv507319 OTHER sequence alteration 20534489
nsv509118 CNV insertion 20534489
nsv511118 OTHER complex 20534489
nsv5202 CNV deletion 18451855
nsv5203 CNV insertion 18451855
nsv5204 CNV insertion 18451855
nsv600992 CNV gain 21841781
nsv600993 CNV loss 21841781
nsv958380 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
PHACTR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHACTR1

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

Disorders for PHACTR1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
artery disease
  • arteriopathic disease
deafness, autosomal dominant 31
  • autosomal dominant nonsyndromic deafness 31
deafness, autosomal dominant 21
  • autosomal dominant nonsyndromic deafness 21
myocardial infarction
  • myocardial infarction, protection against
deafness, autosomal dominant 13
  • autosomal dominant nonsyndromic deafness 13
- 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 64
  2. Neuropilin-1 regulates a new VEGF-induced gene, Phactr-1, which controls tubulogenesis and modulates lamellipodial dynamics in human endothelial cells. (PMID: 21939755) Allain B. … Lepelletier Y. (Cell. Signal. 2012) 3 4 64
  3. A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. (PMID: 21378988) (Nat. Genet. 2011) 3 46 64
  4. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H. … Samani N.J. (Nat. Genet. 2011) 3 46 64
  5. A genome-wide association study in europeans and South asians identifies 5 new Loci for coronary artery disease. (PMID: 21846871) Mehta N.N. (Circ Cardiovasc Genet 2011) 3 46 64

Products for PHACTR1 Gene

Sources for PHACTR1 Gene

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