Aliases for PHACTR1 Gene
Aliases for PHACTR1 Gene
External Ids for PHACTR1 Gene
- HGNC: 20990
- Entrez Gene: 221692
- Ensembl: ENSG00000112137
- OMIM: 608723
- UniProtKB: Q9C0D0
Previous HGNC Symbols for PHACTR1 Gene
- RPEL1
Previous GeneCards Identifiers for PHACTR1 Gene
- GC06P012826
- GC06P012827
Summaries 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 Deafness, Autosomal Dominant 31 and Deafness, Autosomal Dominant 21. Gene Ontology (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.
Additional gene information for PHACTR1 Gene
- Monarch Initiative
- Search for PHACTR1 at DataMed
- Search for PHACTR1 at HumanCyc
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
GeneHancer (GH) Regulatory Elements for PHACTR1 Gene
Promoters and enhancers for PHACTR1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH06I012717 | Promoter | 0.7 | EPDnew | 550.8 | +1.0 | 985 | 0.1 | GATA3 RFX1 RFX3 | PHACTR1 LOC105374935 GC06M012692 | |
| GH06I012716 | Promoter | 0.5 | EPDnew | 550.8 | +0.1 | 142 | 0.1 | PHACTR1 LOC105374935 GC06M012692 | ||
| GH06I013258 | Enhancer | 1.5 | FANTOM5 Ensembl ENCODE dbSUPER | 6.6 | +544.3 | 544326 | 4.3 | HDGF PKNOX1 RB1 BMI1 BATF KLF5 IRF4 ZNF207 ATF7 ETV6 | TBC1D7 RNU1-11P ENSG00000215022 PHACTR1 GFOD1 RANBP9 PIR62166 LOC105374933 | |
| GH06I012748 | Enhancer | 0.9 | Ensembl ENCODE | 10.5 | +33.1 | 33107 | 1.5 | MXI1 KLF1 ZNF133 BACH1 SIN3A ZFHX2 POLR2A ZNF366 SCRT2 ZBTB20 | PHACTR1 LOC105374935 LOC105374934 GC06M012692 | |
| GH06I012638 | Enhancer | 0.8 | FANTOM5 | 10.1 | -78.5 | -78504 | 0.1 | CTCF JUN INSM2 RAD21 ZEB1 FOSL1 ZNF366 SMC3 ZNF143 FOSL2 | EDN1 PHACTR1 LINC02530 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PHACTR1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for PHACTR1 Gene
Genomic Locations for PHACTR1 Gene
- chr6:12,716,606-13,290,484
- (GRCh38/hg38)
- Size:
- 573,879 bases
- Orientation:
- Plus strand
- chr6:12,717,037-13,288,645
- (GRCh37/hg19)
Genomic View for PHACTR1 Gene
Genes around PHACTR1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p24.1 by Ensembl
- 6p24.1 by Entrez Gene
- 6p24.1 by HGNC
PHACTR1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for PHACTR1 Gene
Post-translational modifications for PHACTR1 Gene
No Post-translational modifications
Other Protein References for PHACTR1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001229577.1
- NP_001309237.1
- NP_001309238.1
- NP_001309239.1
- NP_001309240.1
- NP_001309241.1
- NP_001309242.1
- NP_001309243.1
- NP_112210.1
- XP_005248991.1
- XP_016865941.1
- XP_016865943.1
- XP_016865944.1
- XP_016865945.1
- XP_016865946.1
- XP_016865947.1
- XP_016865948.1
- XP_016865949.1
- XP_016865950.1
- XP_016865951.1
- XP_016865952.1
- XP_016865953.1
- XP_016865954.1
- XP_016865955.1
- XP_016865956.1
- XP_016865958.1
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-
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Assay Products
No data available for DME Specific Peptides for PHACTR1 Gene
Domains & Families for PHACTR1 Gene
Gene Families for PHACTR1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for PHACTR1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PHACTR1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9C0D0UniProtKB/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.
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.
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for PHACTR1 Gene
- GenomeRNAi human phenotypes for PHACTR1:
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miRNA for PHACTR1 Gene
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
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- Yeast expression
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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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| cytoskeleton | 1 |
- Plasma membrane (1)
| 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 | -- |
Pathways & Interactions for PHACTR1 Gene
No Data Available
Interacting Proteins for PHACTR1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0031032 | actomyosin structure organization | IMP | 22976292 |
| GO:0031532 | actin cytoskeleton reorganization | ISS,IEA | -- |
| GO:0032515 | negative regulation of phosphoprotein phosphatase activity | IEA | -- |
| GO:0043086 | negative regulation of catalytic activity | IEA | -- |
| GO:0043149 | stress fiber assembly | IMP | 22976292 |
No data available for Pathways by source and SIGNOR curated interactions for PHACTR1 Gene
Transcripts for PHACTR1 Gene
mRNA/cDNA for PHACTR1 Gene
- (26) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (74) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PHACTR1 Gene
CRISPR Products
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-
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for PHACTR1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PHACTR1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Melanocytes (Integumentary System)
- Epidermis (Integumentary System)
- Brain (Nervous System)
- Epiblast (Early Embryonic Tissues)
- NULL (Integumentary System)
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PHACTR1 Gene:
PHACTR1SOURCE GeneReport for Unigene cluster for PHACTR1 Gene:
Hs.436996mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for PHACTR1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PHACTR1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | PHACTR1 33 |
|
||
| dog (Canis familiaris) |
Mammalia | PHACTR1 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Phactr1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Phactr1 33 16 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PHACTR1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PHACTR1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PHACTR1 33 34 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | phactr1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100334776 33 |
|
- 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)
Paralogs for PHACTR1 Gene
(3) SIMAP similar genes for PHACTR1 Gene using alignment to 10 proteins:
Variants for PHACTR1 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000004832 | -- | 12,979,038(+) | T/G | genic_upstream_transcript_variant, intron_variant | |
| rs1000008114 | -- | 13,084,596(+) | C/T | intron_variant | |
| rs1000026902 | -- | 13,187,100(+) | T/C | intron_variant | |
| rs1000036141 | -- | 13,225,149(+) | G/A | intron_variant | |
| rs1000048431 | -- | 12,790,557(+) | C/G | genic_upstream_transcript_variant, intron_variant |
Gene Damage Index Score:
0.56;
12.00% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PHACTR1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHACTR1 Gene
Disorders for PHACTR1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal dominant 31 |
|
|
| deafness, autosomal dominant 21 |
|
|
| fibromuscular dysplasia |
|
|
| migraine without aura |
|
|
| deafness, autosomal dominant 13 |
|
|
Search PHACTR1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PHACTR1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for PHACTR1 Gene
Publications for PHACTR1 Gene
- 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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
- 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 (Cellular signalling 2012) 3 4 58
- Depletion of the novel protein PHACTR-1 from human endothelial cells abolishes tube formation and induces cell death receptor apoptosis. (PMID: 21798305) Jarray R … Raynaud F (Biochimie 2011) 3 4 58
- A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. (PMID: 21378988) Coronary Artery Disease (C4D) Genetics Consortium (Nature genetics 2011) 3 44 58
- Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H … Samani NJ (Nature genetics 2011) 3 44 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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Sources for PHACTR1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew