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 Artery Disease and Myocardial Infarction. 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
Enhancers for PHACTR1 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around PHACTR1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the PHACTR1 gene promoter:
Regulatory Element Products
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:
-
- 6p24.1 by Ensembl
- 6p24.1 by Entrez Gene
- 6p23 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
Other Protein References for PHACTR1 Gene
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for PHACTR1
-
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-
Santa Cruz Biotechnology (SCBT) Antibodies for PHACTR1
Protein Products
-
OriGene Purified Proteins for PHACTR1
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- Search GeneTex for Proteins for PHACTR1
Assay Products
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:
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.
- 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.
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 for PHACTR1 Gene
- GenomeRNAi human phenotypes for PHACTR1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for PHACTR1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PHACTR1 gene
- Search ViGene Biosciences for PHACTR1
CRISPR Products
-
OriGene CRISPR knockouts for PHACTR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHACTR1
- GenScript: Design CRISPR guide RNA sequences for PHACTR1
miRNA for PHACTR1 Gene
- miRTarBase miRNAs that target PHACTR1
miRNA Products
- Search ViGene Biosciences for PHACTR1
Clone Products
- OriGene clones in human for PHACTR1
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Cell Line Products
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-
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-
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Flow Cytometry Products
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}.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 5 |
| cytoskeleton | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | ISS | -- |
Pathways & Interactions for PHACTR1 Gene
More details on SuperPathways for PHACTR1
No Data Available
Interacting Proteins for PHACTR1 Gene
Selected Interacting proteins:
Q9C0D0-PHAR1_HUMAN
ENSP00000329880
for PHACTR1 Gene via
MINT
STRING
I2D
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0043086 | negative regulation of catalytic activity | IEA | -- |
| GO:0048870 | cell motility | 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
- (18) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (74) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PHACTR1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PHACTR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHACTR1
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miRNA Products
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Clone Products
- OriGene clones in human for PHACTR1
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Expression for PHACTR1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Melanocytes (Integumentary System)
- Brain (Nervous System)
- Epidermis (Integumentary 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
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.
- Elite partner
Primer Products
-
OriGene qPCR primer pairs for PHACTR1
Orthologs for PHACTR1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | PHACTR1 35 |
|
||
| dog (Canis familiaris) |
Mammalia | PHACTR1 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Phactr1 35 |
|
||
| Phactr1 16 |
|
||||
| chimpanzee (Pan troglodytes) |
Mammalia | PHACTR1 35 |
|
||
| PHACTR1 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Phactr1 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PHACTR1 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PHACTR1 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PHACTR1 35 |
|
||
| PHACTR1 36 |
|
OneToOne | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | phactr1 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100334776 35 |
|
- 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)
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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs17602409 | - | 13,205,891(+) | ATGAT(C/G/T)TGTAT | reference, missense | |
| VAR_069379 | - | ||||
| rs1008461 | -- | 13,218,317(+) | CTACT(C/T)ATCAG | intron-variant | |
| rs1008462 | -- | 13,218,666(+) | aaaat(A/C)aaaaa | intron-variant | |
| rs1011188 | -- | 12,812,716(+) | ACAAC(A/G)TTTCA | intron-variant |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHACTR1 Gene
Disorders for PHACTR1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| artery disease |
|
|
| myocardial infarction |
|
|
Search PHACTR1 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for PHACTR1
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 Res. 2000) 2 3 4 67
- 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
- Common genetic variants and subclinical atherosclerosis: The Multi-Ethnic Study of Atherosclerosis (MESA). (PMID: 26789557) Vargas J.D. … Bluemke D.A. (Atherosclerosis 2016) 3
- Genetics of Coronary Artery Disease in Taiwan: A Cardiometabochip Study by the Taichi Consortium. (PMID: 26982883) Assimes T.L. … Taylor K.D. (PLoS ONE 2016) 3
- Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection. (PMID: 25420145) Debette S. … Dallongeville J. (Nat. Genet. 2015) 3
Products for PHACTR1 Gene
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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) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
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- (103) MaxQB
- (104) IUPHAR
- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
- (108) HOMER
- (109) PaxDb
- (110) ApexBio
- (111) Addgene
- (112) Advanced Cell Diagnostics
- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
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- (149) ENCODE
- (150) ProSci
- (151) Horizon