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PFN1 Gene

protein-coding   GIFtS: 70
GCID: GC17M004848

Profilin 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Profilin 11 2
Epididymis Tissue Protein Li 184a2 3
Profilin I2 3
ALS182 5
profilin-12

External Ids:    HGNC: 88811   Entrez Gene: 52162   Ensembl: ENSG000001085187   OMIM: 1766105   UniProtKB: P077373   

Export aliases for PFN1 gene to outside databases

Previous GC identifers: GC17M005268 GC17M004793 GC17M005049 GC17M004789


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PFN1 Gene:
This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an
important role in actin dynamics by regulating actin polymerization in response to extracellular signals.
Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in
Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. (provided by RefSeq, Jul 2012)

GeneCards Summary for PFN1 Gene:
PFN1 (profilin 1) is a protein-coding gene. Diseases associated with PFN1 include pfn1-related amyotrophic lateral sclerosis, and amyotrophic lateral sclerosis 18. GO annotations related to this gene include actin binding and proline-rich region binding. An important paralog of this gene is PFN2.

UniProtKB/Swiss-Prot: PROF1_HUMAN, P07737
Function: Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents
the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the
formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential
for its inhibition of AR

Gene Wiki entry for PFN1 (Profilin 1) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the PFN1 gene promoter:
         E2F-3a   E2F   E2F-1   E2F-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPFN1 promoter sequence
   Search Chromatin IP Primers for PFN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PFN1


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

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.2

PFN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PFN1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M004848:  view genomic region     (about GC identifiers)

Start:
4,848,947 bp from pter      End:
4,852,356 bp from pter
Size:
3,410 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PROF1_HUMAN, P07737 (See protein sequence)
Recommended Name: Profilin-1  
Size: 140 amino acids; 15054 Da
Subunit: Occurs in many kinds of cells as a complex with monomeric actin in a 1:1 ratio. Found in a complex with
XPO6, Ran, ACTB and PFN1. Interacts with VASP. Interacts with HTT
Selected PDB 3D structures from and Proteopedia for PFN1 (see all 9):
1AWI (3D)        1CF0 (3D)        1CJF (3D)        1FIK (3D)        1FIL (3D)        1PFL (3D)    
Secondary accessions: Q53Y44

Explore the universe of human proteins at neXtProt for PFN1: NX_P07737

Explore proteomics data for PFN1 at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-138 reduces its affinity for G-actin and blocks its interaction with HTT, reducing its
    ability to inhibit androgen receptor (AR) and HTT aggregation1
  • Ubiquitination2 at Lys38, Lys54, Lys70, Lys91, Lys105, Lys108, Lys126, Lys127
  • Modification sites at PhosphoSitePlus

  • See PFN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005013.1  
    ENSEMBL proteins: 
     ENSP00000225655   ENSP00000465019   ENSP00000460363  
    Reactome Protein details: P07737

    PFN1 Human Recombinant Protein Products:

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    Novus Biologicals PFN1 Proteins
    Novus Biologicals PFN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for PFN1
    Cloud-Clone Corp. Proteins for PFN1

    PFN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PFN1
    R&D Systems Antibodies for PFN1 (Profilin 1)
    Cell Signaling Technology (CST) Antibodies for PFN1  (profilin 1)
    OriGene Antibodies for PFN1
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    Novus Biologicals PFN1 Antibodies
    Abcam antibodies for PFN1
    Cloud-Clone Corp. Antibodies for PFN1
    ThermoFisher Antibody for PFN1
    LSBio Antibodies in human, mouse, rat for PFN1

    PFN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for PFN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PFN1
    Cloud-Clone Corp. CLIAs for PFN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR005454 Profilin_chordates
     IPR027310 Profilin_CS
     IPR005455 Profilin_eukaryotes/bac

    Graphical View of Domain Structure for InterPro Entry P07737

    ProtoNet protein and cluster: P07737

    1 Blocks protein domain: IPB005454 Mammal profilin signature

    UniProtKB/Swiss-Prot: PROF1_HUMAN, P07737
    Similarity: Belongs to the profilin family


    PFN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PROF1_HUMAN, P07737
    Function: Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents
    the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the
    formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential
    for its inhibition of AR

         Genatlas biochemistry entry for PFN1:
    profilin 1,149kDa,G-actin binding protein,preventing its polymerization to F-actin

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000774adenyl-nucleotide exchange factor activity IDA7758455
    GO:0003779actin binding IPI17914456
    GO:0005102receptor binding IEA--
    GO:0005515protein binding IPI--
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding IDA7758455
         
    PFN1 for ontologies           About GeneDecksing


    Phenotypes:
         8 GenomeRNAi human phenotypes for PFN1:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica  
     Decreased Salmonella enterica   Decreased Salmonella-containin  Decreased focal adhesion (FA)   Decreased nuclei size in G2M 

         15 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Pfn1):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  embryogenesis 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  nervous system  normal  skeleton 

    PFN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pfn1tm1Wit for PFN1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PFN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PFN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PFN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PFN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PFN1:
    hsa-mir-99b-3p (MIRT038531), hsa-mir-30c-5p (MIRT047929), hsa-mir-182-5p (MIRT007199), hsa-mir-193b-3p (MIRT041589), hsa-mir-766-3p (MIRT039051), hsa-mir-941 (MIRT036585), hsa-let-7b-5p (MIRT051906), hsa-mir-92a-3p (MIRT049148), hsa-mir-92b-3p (MIRT040578), hsa-mir-222-3p (MIRT046707)

    Block miRNA regulation of human, mouse, rat PFN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PFN1 (see all 13):
    hsa-miR-548d-3p hsa-miR-411 hsa-miR-561 hsa-miR-3942-5p hsa-miR-522 hsa-miR-1271 hsa-miR-224* hsa-miR-885-3p
    SwitchGear 3'UTR luciferase reporter plasmidPFN1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PFN1
    Predesigned siRNA for gene silencing in human, mouse, rat PFN1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: PFN1 (NM_005022)
    Sino Biological Human cDNA Clone for PFN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PFN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFN1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for PFN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PROF1_HUMAN, P07737: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    nucleus2
    plasma membrane2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--
    GO:0043005neuron projection IEA--

    PFN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PFN1 About   (see all 20)  
    See pathways by source

    SuperPathContained pathways About
    1Development Slit Robo signaling
    Development Slit Robo signaling0.92
    Cytoskeleton remodeling Slit Robo signaling0.92
    2Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    3Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    4beta-catenin independent WNT signaling
    beta-catenin independent WNT signaling0.79
    Signaling by Wnt0.79
    5L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PFN1
        RhoA Pathway
    Actin-Based Motility by Rho Family GTPases
    Integrin Pathway
    Actin Nucleation and Branching
    Fc-GammaR-Mediated Phagocytosis in Macrophages

    1 Cell Signaling Technology (CST) Pathway for PFN1
        Cytoskeletal Signaling

    3 GeneGo (Thomson Reuters) Pathways for PFN1
        Development Slit-Robo signaling
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Immune response CCR3 signaling in eosinophils

    2 BioSystems Pathways for PFN1
        G13 Signaling Pathway
    Regulation of Actin Cytoskeleton

    1 Sino Biological Pathway for PFN1
        Non-Canonical Wnt Pathway

    3 Reactome Pathways for PFN1
        Platelet degranulation
    PCP/CE pathway
    Signaling by Robo receptor


    4 Kegg Pathways  (Kegg details for PFN1):
        Rap1 signaling pathway
    Regulation of actin cytoskeleton
    Shigellosis
    Salmonella infection


    PFN1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PFN1: 
              Cell Motility in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PFN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PFN1 (P077371, 2, 3 ENSP000002256554) via UniProtKB, MINT, STRING, and/or I2D (see all 155)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C14orf1Q9UKR52, 3MINT-63429 I2D: score=5 
    UNC119Q134322, 3MINT-63425 I2D: score=5 
    CRMP1Q141942, 3MINT-63426 I2D: score=4 
    LRIF1Q5T3J32, 3MINT-63428 I2D: score=4 
    TLE1Q047242, 3MINT-63424 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001843neural tube closure IEA--
    GO:0002576platelet degranulation TAS--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0007596blood coagulation TAS--
    GO:0008219cell death IEA--

    PFN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PFN1 (PROF1)

    1 DrugBank Compound for PFN1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    7-HYDROXY-4-METHYL-3-(2-HYDROXY-ETHYL)COUMARIN-- --target--10592235

    7 Novoseek inferred chemical compound relationships for PFN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 62.1 19 19607826 (3), 9428724 (2), 10600384 (2), 19028693 (2) (see all 10)
    pip2 45.2 1 1966040 (1)
    glyceraldehyde 3-phosphate 35.1 3 14997506 (1), 17268060 (1), 18310271 (1)
    inositol 1,4,5 trisphosphate 28.8 2 9578635 (1), 19035654 (1)
    phosphoinositide 28.5 1 18937284 (1)
    atp 16.4 2 18692161 (1), 18384219 (1)
    lipid 0 1 9578635 (1)



    PFN1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PFN1 gene: 
    NM_005022.3  

    Unigene Cluster for PFN1:

    Profilin 1
    Hs.494691  [show with all ESTs]
    Unigene Representative Sequence: BM807538
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000225655(uc002gaa.3) ENST00000574872 ENST00000572383
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PFN1 (see all 13):
    hsa-miR-548d-3p hsa-miR-411 hsa-miR-561 hsa-miR-3942-5p hsa-miR-522 hsa-miR-1271 hsa-miR-224* hsa-miR-885-3p
    SwitchGear 3'UTR luciferase reporter plasmidPFN1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PFN1
    Clone
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    GenScript: all cDNA clones in your preferred vector: PFN1 (NM_005022)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFN1
    Primer
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    OriGene qPCR primer pairs and template standards for PFN1
    OriGene qSTAR qPCR primer pairs in human, mouse for PFN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PFN1
      QuantiTect SYBR Green Assays in human, mouse, rat PFN1
      QuantiFast Probe-based Assays in human, mouse, rat PFN1

    Additional mRNA sequence: 

    AK312168.1 BC002475.2 BC006768.1 BC013439.1 BC015164.1 BC057828.1 BT007001.1 CR407670.1 
    GU727630.1 J03191.1 

    Selected DOTS entries (see all 37):

    DT.100828900  DT.100828860  DT.100828885  DT.95330022  DT.95330079  DT.100828897  DT.92468396  DT.91908823 
    DT.120890970  DT.100828896  DT.91888818  DT.95330074  DT.120891266  DT.92468412  DT.92468411  DT.100828869 
    DT.120891085  DT.120891065  DT.92325585  DT.100828875  DT.120891367  DT.95330024  DT.95330026  DT.100828879 

    Selected AceView cDNA sequences (see all 1486):

    J03191 AA310915 BM768942 BU730993 BU734719 BM741119 BQ212357 AA833802 
    AI904556 BI859450 AI669115 BE296589 BG032954 BQ428418 BM763091 AA573881 
    AJ714014 BQ446230 CK822652 BQ671368 BM799388 CB992282 AI523265 BI855626 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PFN1 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d
    SP1:        -                             -     -                                             
    SP2:                                      -     -                                             
    SP3:                                      -     -                                             
    SP4:                                      -     -                 -                           
    SP5:                                            -                                             


    ECgene alternative splicing isoforms for PFN1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PFN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTGGGGGC
    PFN1 Expression
    About this image


    PFN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 25) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             Oviduct
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
    PFN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PFN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.494691

    UniProtKB/Swiss-Prot: PROF1_HUMAN, P07737
    Tissue specificity: Expressed in epididymis (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including PFN1: 
              Cell Motility in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PFN1
    OriGene qSTAR qPCR primer pairs in human, mouse for PFN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PFN1
    QuantiTect SYBR Green Assays in human, mouse, rat PFN1
    QuantiFast Probe-based Assays in human, mouse, rat PFN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFN1

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PFN1 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pfn11 , 5 profilin 11, 5 94.52(n)1
    95.71(a)1
      11 (43.21 cM)5
    186431  NM_011072.41  NP_035202.11 
     706518505 
    zebrafish
    (Danio rerio)
    Actinopterygii pfn26
    profilin 2
    60(a)
    many ↔ many
    22(38065111-38079706) ENSDARG00000003952


    ENSEMBL Gene Tree for PFN1 (if available)
    TreeFam Gene Tree for PFN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PFN1 gene
    PFN22  PFN32  
    3 SIMAP similar genes for PFN1 using alignment to 3 protein entries:     PROF1_HUMAN (see all proteins):
    PDE4DIP    PFN2    PFN3

    PFN1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for PFN1 (see all 15)
    PGOHUM00000238616 PGOHUM00000243929 PGOHUM00000244198 PGOHUM00000244208 PGOHUM00000244252


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PFN1 (see all 111)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0689254
    Amyotrophic lateral sclerosis 18 (ALS18)4--see VAR_0689252 C G mis40--------
    VAR_0689284
    Amyotrophic lateral sclerosis 18 (ALS18)4--see VAR_0689282 G V mis40--------
    VAR_0689264
    Amyotrophic lateral sclerosis 18 (ALS18)4--see VAR_0689262 M T mis40--------
    rs1405475201,2,,4
    C,F--4836441(+) CACCTT/CCTTTG 2 /E /G mis12Minor allele frequency- C:0.00NA EU 5875
    rs115386911,2
    C,F,H--4849039(+) GGAGGG/TGTCTG 1 -- ut31 ese39Minor allele frequency- T:0.02NS EA NA 1014
    rs22336581,2
    C--4849075(-) CAAAAC/TCACAT 1 -- ut31 ese30--------
    rs1139418321,2
    C--4849087(+) CAGCAA/G/TTAAGG 2 -- ut311CSA 1
    rs18042201,2
    C--4849169(-) TCACCA/C/GCTCCC 2 -- ut310--------
    rs2004159291,2
    --4849191(+) CAGACA/GAGGTC 1 -- ut310--------
    rs22336571,2
    C--4849201(-) TCCCAA/GTACTG 2 Q syn1 ese30--------

    HapMap Linkage Disequilibrium report for PFN1 (4848947 - 4852356 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for PFN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv907621CNV Loss21882294
    nsv907620CNV Loss21882294
    nsv833347CNV Loss17160897
    nsv833350CNV Loss17160897
    nsv833349CNV Loss17160897
    nsv907619CNV Loss21882294

    Human Gene Mutation Database (HGMD): PFN1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PFN1
    DNA2.0 Custom Variant and Variant Library Synthesis for PFN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 176610   
    OMIM disorders: 614808  
    UniProtKB/Swiss-Prot: PROF1_HUMAN, P07737
  • Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]: A neurodegenerative disorder affecting upper motor
    neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis.
    Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal
    tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and
    deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be
    multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for PFN1 (see all 30):    
    About MalaCards
    pfn1-related amyotrophic lateral sclerosis    amyotrophic lateral sclerosis 18    coccidiosis    pancreatic ductal carcinoma
    miller-dieker syndrome    amyotrophic lateral sclerosis with frontotemporal dementia    huntington's disease    amyotrophic lateral sclerosis
    shigellosis    lateral sclerosis    lissencephaly    frontotemporal dementia
    wiskott-aldrich syndrome    epididymitis    rhinitis    allergic rhinitis
    choriocarcinoma    nasopharyngitis    pancreatitis    dementia

    3 diseases from the University of Copenhagen DISEASES database for PFN1:
    Hypersensitivity reaction type I disease     Allergic rhinitis     Coccidiosis

    PFN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for PFN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 24.7 37 17940506 (5), 20143334 (5), 18937284 (5), 19115233 (4) (see all 7)
    tumors 0 7 14767055 (2), 17268060 (1), 17051643 (1), 10811861 (1)
    cancer 0 5 20143334 (1), 14767055 (1)


    Export disorders for PFN1 gene to outside databases

    (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)
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    PubMed articles for PFN1 gene, integrated from 10 sources (see all 173):
    (articles sorted by number of sources associating them with PFN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis. (PubMed id 3356709)1, 2, 3 Kwiatkowski D.J. and Bruns G.A.P. (J. Biol. Chem. 1988)
    2. Distinct biochemical characteristics of the two human profilin isoforms. (PubMed id 7758455)1, 2, 9 Gieselmann R.... Witke W. (Eur. J. Biochem. 1995)
    3. Characterization of the three-dimensional solution structure of human profilin: 1H, 13C, and 15N NMR assignments and global folding pattern. (PubMed id 8268157)1, 2, 9 Metzler W.J.... Mueller L. (Biochemistry 1993)
    4. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. (PubMed id 22801503)1, 2 Wu C.H.... Landers J.E. (Nature 2012)
    5. Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. (PubMed id 20736409)1, 2 Li J.... Liu Y. (Mol. Cell. Proteomics 2010)
    6. Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation. (PubMed id 18573880)1, 2 Shao J.... Diamond M.I. (Mol. Cell. Biol. 2008)
    7. Structural basis for the recruitment of profilin-actin complexes during filament elongation by Ena/VASP. (PubMed id 17914456)1, 2 Ferron F.... Dominguez R. (EMBO J. 2007)
    8. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    9. 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. (Genome Res. 2004)
    10. Exportin 6: a novel nuclear export receptor that is specific for profilin.actin complexes. (PubMed id 14592989)1, 2 Stueven T.... Goerlich D. (EMBO J. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5216 HGNC: 8881 AceView: PFN1 Ensembl:ENSG00000108518 euGenes: HUgn5216
    ECgene: PFN1 Kegg: 5216 H-InvDB: PFN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PFN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PFN1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PFN1 gene:
    Search GeneIP for patents involving PFN1

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



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