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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PHACTR1 Gene

protein-coding   GIFtS: 50
GCID: GC06P012717

phosphatase and actin regulator 1

(Previous name: RPEL repeat containing 1 )
(Previous symbol: RPEL1)
 Explore 2 diseases affiliated with
PHACTR1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PHACTR1    

Aliases
for PHACTR1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Phosphatase And Actin Regulator 11 2
RPEL11 2 3
DJ257A7.21
RPEL Repeat Containing 11 2
KIAA17331 3
RPEL2

External Ids:    HGNC: 209901   Entrez Gene: 2216922   Ensembl: ENSG000001121377   OMIM: 6087235   UniProtKB: Q9C0D03   

Export aliases for PHACTR1 gene to outside databases

Previous GC identifers: GC06P012826 GC06P012827


Summaries
for PHACTR1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
  --

Genomic Views
for PHACTR1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PHACTR1 gene promoter:
         HOXA9   HOXA9B   Gfi-1   Meis-1b   MEF-2A   FOXJ2 (long isoform)   FOXJ2   aMEF-2   FOXO1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PHACTR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PHACTR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHACTR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p24.1   Ensembl cytogenetic band:  6p24.1   HGNC cytogenetic band: 6p23

PHACTR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHACTR1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P012717:  view genomic region     (about GC identifiers)

Start:
 12,717,833 bp from pter      End:
 13,288,645 bp from pter
Size:
 570,813 bases      Orientation:
 plus strand

Proteins
for PHACTR1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PHAR1_HUMAN, Q9C0D0 (See protein sequence)
Recommended Name: Phosphatase and actin regulator 1  
Size: 580 amino acids; 66308 Da
Subunit: Binds PPP1CA and actin (By similarity)
Subcellular location: Cytoplasm (By similarity). Cell junction, synapse (By similarity). Note=Enriched at synapses (By
similarity)
Sequence caution: Sequence=BAB21824.1; Type=Erroneous initiation;
Secondary accessions: A8K1V2 Q3MJ93 Q5JSJ2
Alternative splicing: 2 isoforms:  Q9C0D0-1   Q9C0D0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PHACTR1: NX_Q9C0D0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9C0D0

    • PHACTR1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001229577.1  NP_112210.1  

    ENSEMBL proteins: 
     ENSP00000368655   ENSP00000368653   ENSP00000384760   ENSP00000412573   ENSP00000395948  
     ENSP00000368639   ENSP00000368633   ENSP00000329880   ENSP00000390854   ENSP00000397669  
     ENSP00000368650  

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    Uscn Proteins for PHACTR1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0030054cell junction IEA--
    GO:0045202synapse IEA--


    PHACTR1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PHACTR1

    Protein Domains /
    Families
    for PHACTR1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PHACTR1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR004018 RPEL_repeat

    Graphical View of Domain Structure for InterPro Entry Q9C0D0

    ProtoNet protein and cluster: Q9C0D0

    UniProtKB/Swiss-Prot: PHAR1_HUMAN, Q9C0D0
    Similarity: Belongs to the phosphatase and actin regulator family
    Similarity: Contains 4 RPEL repeats


    Function
    for PHACTR1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
    Products:            		 OriGene 3'-UTR Clone: PHACTR1
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHACTR1
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate PHACTR1 (see all 11):
    hsa-miR-2052 hsa-miR-34b* hsa-miR-4271 hsa-miR-4307 hsa-miR-634 hsa-miR-218-2* hsa-miR-182* hsa-miR-2116
    SwitchGear 3'UTR luciferase reporter plasmid: PHACTR1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: PHACTR1
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for PHACTR1

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHACTR1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0004864protein phosphatase inhibitor activity IEA--


    PHACTR1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PHACTR1:
     High actin ratio cells 


    Pathways & Interactions
    for PHACTR1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PHACTR1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for PHACTR1 (Q9C0D02, 3 ENSP000003976694) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTA1P681333, ENSP000003556454I2D: score=2 STRING: ENSP00000355645
    PPP1CAP621363, ENSP000003260314I2D: score=2 STRING: ENSP00000326031
    GRB2P629933I2D: score=1 
    --P310162MINT-8109062
    About this table

    Drugs & Compounds
    for PHACTR1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PHACTR1
    Search CenterWatch for drugs/clinical trials and news about PHACTR1 / PHAR1 

    Transcripts
    for PHACTR1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PHACTR1 gene (2 alternative transcripts): 
    NM_001242648.1  NM_030948.2  

    Unigene Cluster for PHACTR1:

    Phosphatase and actin regulator 1
    Hs.436996  [show with all ESTs]
    Unigene Representative Sequence: NM_030948
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379350(uc003nag.2) ENST00000379348(uc003nai.3) ENST00000406205
    ENST00000482982 ENST00000434977 ENST00000415087(uc003nah.2 uc010jpc.3)
    ENST00000468142 ENST00000489548 ENST00000379335 ENST00000379329 ENST00000481706
    ENST00000332995 ENST00000432934(uc011dir.2) ENST00000457702 ENST00000379345


    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate PHACTR1 (see all 11):
    hsa-miR-2052 hsa-miR-34b* hsa-miR-4271 hsa-miR-4307 hsa-miR-634 hsa-miR-218-2* hsa-miR-182* hsa-miR-2116
    SwitchGear 3'UTR luciferase reporter plasmid: PHACTR1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PHACTR1 (see all 7)
    OriGene shRNA RFP: PHACTR1
    OriGene siRNA: PHACTR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PHACTR1
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PHACTR1
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    Additional cDNA sequence: 

    AK090769.1 AK290017.1 AK295263.1 BC047159.1 BC101526.1 BC101528.1 

    11 DOTS entries:

    DT.92418000  DT.313401  DT.75199379  DT.100691753  DT.121367811  DT.121367839  DT.40188426  DT.95076613 
    DT.100698616  DT.408950  DT.95333051 

    24/74 AceView cDNA sequences (see all 74):

    AK090769 BC067280 AX746608 AA809685 BF593405 BM704008 BQ879198 BG150259 
    BQ434462 AW025250 AA364675 BU729910 AI654726 BQ224051 CD639878 BF026507 
    AI699898 BE466263 AA663723 CD364436 BC047159 AA972818 CA444621 BM921400 

    GeneLoc Exon Structure


    Expression
    for PHACTR1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PHACTR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATTGAGTAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PHACTR1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneMaxillary ProcessBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)

    See PHACTR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PHACTR1

    SOURCE GeneReport for Unigene cluster: Hs.436996
        SABiosciences Custom PCR Arrays for PHACTR1
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHACTR1

    Orthologs
    for PHACTR1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for PHACTR1 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Phactr11 , 5 phosphatase and actin regulator 11, 5 87.59(n)1
    94.14(a)1    		   13 (21.05 cM)5
    2181941  NM_198419.31  NP_940811.21 
     426806235 
    chicken
    (Gallus gallus)    		 Aves PHACTR11 phosphatase and actin regulator 1 80.02(n)
    87.68(a)    		   395093  NM_204446.1  NP_989777.1 
    rainbow trout
    (Oncorhynchus mykiss)    		 Actinopterygii BX870840.12   -- 77.77(n)    BX870840.1 


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

    Paralogs
    for PHACTR1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for PHACTR1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/10132 NCBI SNPs in PHACTR1 are shown (see all 10132)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1932585451,2
    		--12715125(+) AATCTA/GTTACA 2 -- us2k10--------
    rs1479150971,2
    		--12715344(+) CAAGCA/GATTCT 2 -- us2k10--------
    rs715532221,2
    		C,--12715521(+) CAGACA/GTGAGC 2 -- us2k13Minor allele frequency- G:0.24NA WA 240
    rs1416365181,2
    		--12715524(+) ACATGA/GGCCTC 2 -- us2k10--------
    rs1150447141,2
    		C,--12715536(+) GTGCCC/TGGCCC 2 -- us2k10--------
    rs715624541,2
    		C,F,--12715537(+) TGCCCG/AGCCCC 2 -- us2k14Minor allele frequency- A:0.12NA WA 242
    rs168733011,2
    		C,F,H,--12715593(+) AATTAC/TGACCC 2 -- us2k123Minor allele frequency- T:0.16NA NS EA CSA WA 2849
    rs1512702191,2
    		C,--12715618(+) TTCAC-/TTTGTA 2 -- us2k10--------
    rs1835300101,2
    		--12715665(+) AGAAAC/TGACTG 2 -- us2k10--------
    rs1158097601,2
    		--12715762(+) ATTTGC/AACTCA 2 -- us2k11Minor allele frequency- A:0.01WA 118

    HapMap Linkage Disequilibrium report for PHACTR1 (12717833 - 12967833 bp, first 250kb of PHACTR1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for PHACTR1
         7 CNVs: 36457 39439 69331 69332 36456 99432 36459
         2 Indels: 42853 28096

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    Disorders / Diseases
    for PHACTR1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PHACTR1 for disorders           About GeneDecksing

    OMIM gene information: 608723    OMIM disorders: --

    2 diseases for PHACTR1:    About MalaCards
    myocardial infarction    gigantism

    Human Genome Epidemiology (HuGE) Navigator: PHACTR1 (6 documents)

    Export disorders for PHACTR1 gene to outside databases

    Publications
    for PHACTR1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PHACTR1 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with PHACTR1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 11214970)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory proteins. (PubMed id 15107502)1, 3 Allen P.B....Greengard P. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    6. Genome-wide association study in a Lebanese cohort con firms PHACTR1 as a major determinant of coronary artery stenosis. (PubMed id 22745674)1 Hager J....Zalloua P.A. (2012)
    7. Genetic heritability of ischemic stroke and the contri bution of previously reported candidate gene and genomewide associations. (PubMed id 23042660)1 Bevan S....Markus H.S. (2012)
    8. Genome-wide linkage and association scans for pulse pressure in Chinese twins. (PubMed id 22763476)1 Zhang D....Tan Q. (2012)
    9. Neuropilin-1 regulates a new VEGF-induced gene, Phactr -1, which controls tubulogenesis and modulates lamellipodial dynamics in human e ndothelial cells. (PubMed id 21939755)1 Allain B....Lepelletier Y. (2012)
    10. Genome-wide association study in Han Chinese identifie s four new susceptibility loci for coronary artery disease. (PubMed id 22751097)1 Lu X....Gu D. (2012)

    External Searches for PHACTR1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
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    Genome Databases showing PHACTR1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 221692 HGNC: 20990 AceView: PHACTR1 Ensembl:ENSG00000112137 euGenes: HUgn221692
    ECgene: PHACTR1 H-InvDB: PHACTR1

    Other Databases showing PHACTR1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1733

    Specialized Databases showing PHACTR1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PHACTR1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PHACTR1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PHACTR1 gene:
    Search GeneIP for patents involving PHACTR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    In Situ Hybridization Assays from
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    About This Section

     
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