Human Gene PFN1 (ENST00000225655.6_6) from GENCODE V47lift37
  Description: profilin 1, transcript variant 2 (from RefSeq NM_005022.4)
Gencode Transcript: ENST00000225655.6_6
Gencode Gene: ENSG00000108518.8_8
Transcript (Including UTRs)
   Position: hg19 chr17:4,848,947-4,851,825 Size: 2,879 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr17:4,849,195-4,851,689 Size: 2,495 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:4,848,947-4,851,825)mRNA (may differ from genome)Protein (140 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PROF1_HUMAN
DESCRIPTION: RecName: Full=Profilin-1; AltName: Full=Epididymis tissue protein Li 184a; AltName: Full=Profilin I;
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.
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.
INTERACTION: Q92558:WASF1; NbExp=2; IntAct=EBI-713780, EBI-1548747; O08816:Wasl (xeno); NbExp=4; IntAct=EBI-713780, EBI-6142604;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
TISSUE SPECIFICITY: Expressed in epididymis (at protein level).
PTM: 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.
SIMILARITY: Belongs to the profilin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PFN1
Diseases sorted by gene-association score: amyotrophic lateral sclerosis 18* (1236), pfn1-related amyotrophic lateral sclerosis* (500), amyotrophic lateral sclerosis 1* (80), gallbladder adenoma (7), lateral sclerosis (6), shigellosis (6), motor neuron disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 956.15 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 11930.60 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -51.10136-0.376 Picture PostScript Text
3' UTR -57.80248-0.233 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002097 - Profilin
IPR005454 - Profilin_mammal

Pfam Domains:
PF00235 - Profilin

SCOP Domains:
55770 - Profilin (actin-binding protein)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1AWI - X-ray MuPIT 1CF0 - X-ray MuPIT 1CJF - X-ray MuPIT 1FIK - X-ray MuPIT 1FIL - X-ray MuPIT 1PFL - NMR MuPIT 2PAV - X-ray MuPIT 2PBD - X-ray MuPIT 3CHW - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P07737
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000774 adenyl-nucleotide exchange factor activity
GO:0003723 RNA binding
GO:0003779 actin binding
GO:0003785 actin monomer binding
GO:0005515 protein binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0017048 Rho GTPase binding
GO:0045296 cadherin binding
GO:0070064 proline-rich region binding

Biological Process:
GO:0001843 neural tube closure
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0010634 positive regulation of epithelial cell migration
GO:0030036 actin cytoskeleton organization
GO:0030837 negative regulation of actin filament polymerization
GO:0030838 positive regulation of actin filament polymerization
GO:0032232 negative regulation of actin filament bundle assembly
GO:0032233 positive regulation of actin filament bundle assembly
GO:0032781 positive regulation of ATPase activity
GO:0050821 protein stabilization
GO:0051497 negative regulation of stress fiber assembly
GO:0060071 Wnt signaling pathway, planar cell polarity pathway
GO:1900029 positive regulation of ruffle assembly

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005925 focal adhesion
GO:0005938 cell cortex
GO:0016020 membrane
GO:0070062 extracellular exosome
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  BC002475 - Homo sapiens profilin 1, mRNA (cDNA clone MGC:2264 IMAGE:3349355), complete cds.
BC006768 - Homo sapiens profilin 1, mRNA (cDNA clone MGC:5227 IMAGE:2900010), complete cds.
BC013439 - Homo sapiens profilin 1, mRNA (cDNA clone MGC:17826 IMAGE:3896948), complete cds.
BC015164 - Homo sapiens profilin 1, mRNA (cDNA clone MGC:10045 IMAGE:3890384), complete cds.
BC057828 - Homo sapiens profilin 1, mRNA (cDNA clone MGC:71801 IMAGE:30337970), complete cds.
J03191 - Human profilin mRNA, complete cds.
LF210958 - JP 2014500723-A/18461: Polycomb-Associated Non-Coding RNAs.
GU727630 - Homo sapiens epididymis secretory sperm binding protein Li 184a mRNA, complete cds.
AK312168 - Homo sapiens cDNA, FLJ92454, Homo sapiens profilin 1 (PFN1), mRNA.
KJ891787 - Synthetic construct Homo sapiens clone ccsbBroadEn_01181 PFN1 gene, encodes complete protein.
BT007001 - Homo sapiens profilin 1 mRNA, complete cds.
DQ891100 - Synthetic construct clone IMAGE:100003730; FLH169337.01X; RZPDo839B0296D profilin 1 (PFN1) gene, encodes complete protein.
DQ894282 - Synthetic construct Homo sapiens clone IMAGE:100008742; FLH169333.01L; RZPDo839B0295D profilin 1 (PFN1) gene, encodes complete protein.
CR407670 - Homo sapiens full open reading frame cDNA clone RZPDo834C1116D for gene PFN1, profilin 1 complete cds, without stopcodon.
AB464067 - Synthetic construct DNA, clone: pF1KB6738, Homo sapiens PFN1 gene for profilin 1, without stop codon, in Flexi system.
MA446535 - JP 2018138019-A/18461: Polycomb-Associated Non-Coding RNAs.
JD390289 - Sequence 371313 from Patent EP1572962.
JD449635 - Sequence 430659 from Patent EP1572962.
JD216396 - Sequence 197420 from Patent EP1572962.
JD363838 - Sequence 344862 from Patent EP1572962.
JD164380 - Sequence 145404 from Patent EP1572962.
LF342517 - JP 2014500723-A/150020: Polycomb-Associated Non-Coding RNAs.
MA578094 - JP 2018138019-A/150020: Polycomb-Associated Non-Coding RNAs.
LF342516 - JP 2014500723-A/150019: Polycomb-Associated Non-Coding RNAs.
JD032483 - Sequence 13507 from Patent EP1572962.
JD027522 - Sequence 8546 from Patent EP1572962.
JD138093 - Sequence 119117 from Patent EP1572962.
D28377 - Homo sapiens mRNA for profilin, 5'UTR region.
JD124700 - Sequence 105724 from Patent EP1572962.
DL491454 - Novel nucleic acids.
MA578093 - JP 2018138019-A/150019: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_d4gdiPathway - D4-GDI Signaling Pathway
h_setPathway - Granzyme A mediated Apoptosis Pathway
h_caspasePathway - Caspase Cascade in Apoptosis
h_ctlPathway - CTL mediated immune response against target cells

Reactome (by CSHL, EBI, and GO)

Protein P07737 (Reactome details) participates in the following event(s):

R-HSA-3965450 DAAM1 recruits PFN1
R-HSA-482775 Release of (inferred) platelet cytosolic components
R-HSA-203070 Association of profilin with monomeric actin
R-HSA-428534 Recruitment of Profilin by Ena/VASP proteins
R-HSA-5665659 RAC1:GTP:FMNL1 binds profilin:G-actin
R-HSA-5665751 CDC42:GTP:FMNL2 binds Profilin:G-actin
R-HSA-5665767 Activated FMNL3 binds G-actin
R-HSA-5666001 Profilin:G-actin binds MKL1
R-HSA-5665809 SRGAP2 stimulates RAC1 GTP-ase activity and ends FMNL1-mediated elongation of actin filaments
R-HSA-5665802 SRGAP2 binds RAC1:GTP:FMNL1:profilin:G-actin
R-HSA-5665982 RHOA:GTP:DIAPH1 binds EVL and sequesters profilin:G-actin from MKL1
R-HSA-4086400 PCP/CE pathway
R-HSA-114608 Platelet degranulation
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-376176 Signaling by ROBO receptors
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-195258 RHO GTPase Effectors
R-HSA-422475 Axon guidance
R-HSA-195721 Signaling by WNT
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-194315 Signaling by Rho GTPases
R-HSA-1266738 Developmental Biology
R-HSA-162582 Signal Transduction
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000225655.1, ENST00000225655.2, ENST00000225655.3, ENST00000225655.4, ENST00000225655.5, NM_005022, P07737, PROF1_HUMAN, Q53Y44, uc317djq.1, uc317djq.2
UCSC ID: ENST00000225655.6_6
RefSeq Accession: NM_005022.4
Protein: P07737 (aka PROF1_HUMAN or PRO1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PFN1:
als-overview (Amyotrophic Lateral Sclerosis Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.