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FLASH GENE
Symbol PFN1 contributors: mct/pgu - updated : 19-06-2013
HGNC name profilin 1
HGNC id 8881
Corresponding disease
ALS18 amyotrophic lateral sclerosis 18
Location 17p13.2      Physical location : 4.848.948 - 4.851.825
Synonym name
  • epididymis tissue protein Li 184a
  • Synonym symbol(s) ALS18
    DNA
    TYPE functioning gene
    STRUCTURE 3.44 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    FLJ90165 17p13.3 hypothetical protein FLJ90165 LOC124974 17p13.3 thioredoxin 1 pseudogene 4 FLJ42461 17p13.3 FLJ42461 protein ALOX15 17p13.1 arachidonate 15-lipoxygenase PELP1 17p13.3 arachidonate 15-lipoxygenase LOC390758 17 similar to 40S RIBOSOMAL PROTEIN S12 ARRB2 17p13 arrestin, beta 2 CXCL16 17p13 chemokine (C-X-C motif) ligand 16 LOC388322 17 similar to HSPC296 ZMYND15 17p13.3 zinc finger, MYND domain containing 15 TM4SF5 17p13.3 transmembrane 4 superfamily member 5 LOC284013 17p13.3 secretory protein LOC284013 LOC388323 17 similar to RIKEN cDNA C730027E14 PSMB6 17p13 proteasome (prosome, macropain) subunit, beta type, 6 PLD2 17p13.1 phospholipase D2 LOC284015 17p13.3 similar to Vacuolar ATP synthase 16 kDa proteolipid subunit MINK 17p13 similar to Vacuolar ATP synthase 16 kDa proteolipid subunit CHRNE 17p13.1 cholinergic receptor, nicotinic, epsilon polypeptide GP1BA 17pter-p12 glycoprotein Ib (platelet), alpha polypeptide SLC25A11 17p13.3 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 DKFZP566H073 17p13.3 DKFZP566H073 protein PFN1 17p13.3 profilin 1 ENO3 17pter-p12 enolase 3, (beta, muscle) SPAG7 17p13.2 sperm associated antigen 7 CAMTA2 17p13.3 calmodulin binding transcription activator 2 LOC388324 17 LOC388324 KIF1C 17p13 kinesin family member 1C FLJ10060 17p13.3 putative G-protein coupled receptor GPCR42 FLJ30726 17p13.3 hypothetical protein FLJ30726 ZNF232 17p13-p12 zinc finger protein 232 USP6 17q11 ubiquitin specific protease 6 (Tre-2 oncogene) KIAA1871 17p13 KIAA1871 protein LOC388325 17 similar to DTFT5783
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1365 - 140 - 1995 7758455
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemovary  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticplasma   
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • profilin family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    basic FUNCTION
  • preventing its polymerization to F-actin
  • key factor for dynamic rearrangements of the actin cytoskeleton
  • not required for actomyosin ring formation in dividing chondrocytes but necessary to generate sufficient force for abscission during late cytokinesis
  • regulates vascular endothelial cells migration, invasion and capillary morphogenesis through its interaction with both actin and proline-rich ligands
  • involved in angiotensin II-induced vascular smooth muscle cell proliferation
  • required for glial cell adhesion and radial migration of cerebellar granule neurons
  • functional role for both profilins (PFN1, PFN2) in neuronal nuclei
  • key player to control actin fiber structure, and it is involved in a number of cellular activities such as migration
  • critical molecule for the skeletal development, and this could be at least in part associated with the retardation of cell migration
  • crucial for the conversion of monomeric (G)-actin to filamentous (F)-actin
  • actin monomer-binding protein, linked to many cellular activities ranging from control of actin polymerization to gene transcription
  • actin-regulatory protein that has a role in modulating smooth muscle contraction
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • NACC1/actin/PFN1 complex is crucial for cancer cell cytokinesis, with a variety of important biologic and clinical implications
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • G-actin binding
  • interacting with DNM1, DNM2, CTTN
  • importance of the interaction of profilin I with actin, proline-rich proteins and phosphatidylinositol 4,5-bisphosphate in neuronal differentiation
  • small actin-binding factor that also interacts with HTT, as being a direct target of the ROCK1 isoform (
  • interaction of CTTN with PFN1 plays a pivotal role in regulating actin dynamics, smooth muscle contraction, and airway hyperresponsiveness in asthma (the association of CTTN with PFN1 is regulated by ABL1-mediated CTTN phosphorylation)
  • cell & other
    REGULATION
    Phosphorylated by VEGFA (VEGFA-inducible phosphorylation of PFN1 at Tyr 129 is critical for endothelial cell migration and angiogenesis)
    ASSOCIATED DISORDERS
    corresponding disease(s) ALS18
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    sensitizes cancer cells to apoptosis through the typical intrinsic apoptotic pathway
    constitutional     --over  
    reduces the aggregation of polyglutamine-expanded HTT and androgen receptor (AR) peptides
    Susceptibility to Amyotrophic lateral sclerosis (ALS18)
    Variant & Polymorphism
    Candidate gene
    Marker
  • has the potential to serve as a diagnostic or progression biomarker in renal cell carcinoma
  • Therapy target
    SystemTypeDisorderPubmed
    cancerurinary 
    therapeutic target in renal cell carcinoma
    ANIMAL & CELL MODELS
  • homozygous Col2pfn1 mice develop progressive chondrodysplasia caused by disorganization of the growth plate and defective chondrocyte cytokinesis, indicated by the appearance of binucleated cells
  • Pfn1-deficient mice exhibited an absence of trabecular bone in the marrow space of appendicular long bone 1)