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

PFN1 Gene

protein-coding   GIFtS: 69
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)
About This Section

Aliases
Profilin 11 2
Epididymis Tissue Protein Li 184a2 3
Profilin I2 3
ALS182
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 pancreatic ductal carcinoma, and pfn1-related amyotrophic lateral sclerosis, and among its related super-pathways are Development Slit-Robo signaling and Regulation of actin cytoskeleton. GO annotations related to this gene include actin binding and phosphatidylinositol-4,5-bisphosphate 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010718.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PFN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm, cytoskeleton
6/9 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:

  • UniProtKB: 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 aggregation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07737

  • PFN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PFN1 Protein Expression
    REFSEQ proteins: NP_005013.1  
    ENSEMBL proteins: 
     ENSP00000225655   ENSP00000465019   ENSP00000460363  
    Reactome Protein details: P07737
    Human Recombinant Protein Products for PFN1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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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 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0043005neuron projection ----
    GO:0045202synapse ----

    PFN1 for ontologies           About GeneDecksing



    PFN1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of PFN1
    R&D Systems Antibodies for PFN1 (Profilin 1)
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    ThermoFisher Antibody for PFN1
    LSBio Antibodies in human, mouse, rat for PFN1 

    Assay Products for PFN1: 
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    GenScript Custom Assay Services for PFN1
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    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)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IPI17914456
    GO:0005102receptor binding ----
    GO:0005515protein binding IPI9822597
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding ----
    GO:0017048Rho GTPase binding IEA--
         
    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 

         13 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Pfn1):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  embryogenesis 
     growth/size  homeostasis/metabolism  immune system  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 - Custom generated mouse model solutions for PFN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    SwitchGear 3'UTR luciferase reporter plasmidPFN1 3' UTR sequence
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of PFN1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFN1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PFN1 About   (see all 17)                                                                                              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
    3Platelet degranulation
    Platelet degranulation 0.94
    Response to elevated platelet cytosolic Ca2+0.94
    4Axon guidance
    Axon guidance0.69
    Developmental Biology0.69
    5Platelet activation, signaling and aggregation
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for PFN1
        Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Cytoskeleton remodeling Slit-Robo signaling
    Immune response CCR3 signaling in eosinophils

    5 Downloadable PowerPoint Slides of QIAGEN 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

    5/7        Reactome Pathways for PFN1 (see all 7)
        Hemostasis
    Developmental Biology
    Platelet degranulation
    Signaling by Robo receptor
    Platelet activation, signaling and aggregation


    3         Kegg Pathways  (Kegg details for PFN1):
        Regulation of actin cytoskeleton
    Shigellosis
    Salmonella infection


    PFN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PFN1

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

    5/95 Interacting proteins for PFN1 (P077371, 2, 3 ENSP000002256554) via UniProtKB, MINT, STRING, and/or I2D (see all 95)
    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): 5/12 biological process terms (GO ID links to tree view) (see all 12):    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 IEA--
    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PFN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about PFN1 / PROF1

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    8/13 QIAGEN miScript miRNA 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
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PFN1
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      QIAGEN 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 

    24/37 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 

    24/1486 AceView cDNA sequences (see all 1486):

    BM741119 BE832242 BI855626 AI523265 CB992282 BM799388 CK822652 BQ671368 
    AJ714014 BQ446230 BM763091 BQ428418 BG032954 AI669115 BE296589 BI859450 
    AI904556 AA833802 BQ212357 BU734719 BU730993 BM768942 AA310915 J03191 

    GeneLoc Exon Structure

    5/6 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™, 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

    PFN1 expression in normal human tissues (normalized intensities)      PFN1 embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Limb (Muscoskeletal System)
             Limb Bud
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus
     
     Amnion (Extraembryonic Tissues)

    See PFN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PFN1

    SOURCE GeneReport for Unigene cluster: Hs.494691

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

        SABiosciences Expression via Pathway-Focused PCR Array including PFN1: 
              Cell Motility in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for PFN1 gene from 1/6 species (see all 6)    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 


    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)
    About This Section
    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


    5/15 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) 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

    10/111 SNPs in PFN1 are shown (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,FAmyotrophic lateral sclerosis 18 (ALS18)4 --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
    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    OMIM gene information: 176610    OMIM disorders: --

    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

  • 20/25 diseases for PFN1 (see all 25):    About MalaCards
    pancreatic ductal carcinoma    pfn1-related amyotrophic lateral sclerosis    coccidiosis    miller-dieker syndrome
    huntington's disease    amyotrophic lateral sclerosis    shigellosis    lissencephaly
    wiskott-aldrich syndrome    epididymitis    rhinitis    paralysis
    allergic rhinitis    nasopharyngitis    choriocarcinoma    renal cell carcinoma
    lateral sclerosis    pancreatitis    endotheliitis    pancreatic cancer

    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)
    About This Section

    PubMed articles for PFN1 gene, integrated from 9 sources (see all 162):
    (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. (1988)
    2. Distinct biochemical characteristics of the two human profilin isoforms. (PubMed id 7758455)1, 2, 9 Gieselmann R.... Witke W. (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. (1993)
    4. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. (PubMed id 22801503)1, 2 Wu C.H.... Landers J.E. (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. (2010)
    6. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)1, 2 Meierhofer D.... Kaiser P. (2008)
    7. Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation. (PubMed id 18573880)1, 2 Shao J....Diamond M.I. (2008)
    8. Structural basis for the recruitment of profilin-actin complexes during filament elongation by Ena/VASP. (PubMed id 17914456)1, 2 Ferron F....Dominguez R. (2007)
    9. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5216 HGNC: 8881 AceView: PFN1 Ensembl:ENSG00000108518 euGenes: HUgn5216
    ECgene: PFN1 Kegg: 5216 H-InvDB: PFN1

    (According to HUGE)
    About This Section
      --

    (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 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.)
    About This Section
    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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    About This Section

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