Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PFN1 Gene

Aliases for PFN1 Gene

  • Profilin 1 2 3
  • Epididymis Tissue Protein Li 184a 3 4
  • Profilin I 3 4
  • ALS18 3 6
  • Profilin-1 3

External Ids for PFN1 Gene

Previous GeneCards Identifiers for PFN1 Gene

  • GC17M005268
  • GC17M004793
  • GC17M005049
  • GC17M004789
  • GC17M004848

Summaries for PFN1 Gene

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 amyotrophic lateral sclerosis 18 and pfn1-related amyotrophic lateral sclerosis. Among its related pathways are Ras signaling pathway and Signaling by GPCR. GO annotations related to this gene include actin binding and proline-rich region binding. An important paralog of this gene is PFN3.

UniProtKB/Swiss-Prot for PFN1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFN1 Gene

Genomics for PFN1 Gene

Regulatory Elements for PFN1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PFN1 Gene

4,945,650 bp from pter
4,949,086 bp from pter
3,437 bases
Minus strand

Genomic View for PFN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PFN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFN1 Gene

Proteins for PFN1 Gene

  • Protein details for PFN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q53Y44

    Protein attributes for PFN1 Gene

    140 amino acids
    Molecular mass:
    15054 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for PFN1 Gene

neXtProt entry for PFN1 Gene

Proteomics data for PFN1 Gene at MOPED

Post-translational modifications for PFN1 Gene

  • 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.
  • Ubiquitination at Lys38, Lys54, Lys70, Lys91, Lys105, Lys108, Lys126, and Lys127
  • Modification sites at PhosphoSitePlus

Other Protein References for PFN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PFN1 (profilin 1)

No data available for DME Specific Peptides for PFN1 Gene

Domains for PFN1 Gene

Protein Domains for PFN1 Gene

Suggested Antigen Peptide Sequences for PFN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • P07737
  • Belongs to the profilin family.
genes like me logo Genes that share domains with PFN1: view

No data available for Gene Families for PFN1 Gene

Function for PFN1 Gene

Molecular function for PFN1 Gene

GENATLAS Biochemistry: profilin 1,149kDa,G-actin binding protein,preventing its polymerization to F-actin
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for PFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000774 adenyl-nucleotide exchange factor activity IDA 7758455
GO:0003779 actin binding IPI 17914456
GO:0003785 actin monomer binding IDA 18573880
GO:0005102 receptor binding IEA --
GO:0005515 protein binding IPI 18573880
genes like me logo Genes that share ontologies with PFN1: view
genes like me logo Genes that share phenotypes with PFN1: view

Animal Models for PFN1 Gene

MGI Knock Outs for PFN1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PFN1 Gene

Localization for PFN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFN1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

Jensen Localization Image for PFN1 Gene COMPARTMENTS Subcellular localization image for PFN1 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2
plasma membrane 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 24700464
GO:0005737 cytoplasm IDA 24700464
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with PFN1: view

Pathways for PFN1 Gene

genes like me logo Genes that share pathways with PFN1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0002576 platelet degranulation TAS --
GO:0006357 regulation of transcription from RNA polymerase II promoter --
GO:0007596 blood coagulation TAS --
GO:0008219 cell death --
genes like me logo Genes that share ontologies with PFN1: view

Compounds for PFN1 Gene

(1) Drugbank Compounds for PFN1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs

(7) Novoseek inferred chemical compound relationships for PFN1 Gene

Compound -log(P) Hits PubMed IDs
proline 62.1 15
pip2 45.2 1
glyceraldehyde 3-phosphate 35.1 3
inositol 1,4,5 trisphosphate 28.8 2
phosphoinositide 28.5 1
genes like me logo Genes that share compounds with PFN1: view

Transcripts for PFN1 Gene

mRNA/cDNA for PFN1 Gene

Unigene Clusters for PFN1 Gene

Profilin 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PFN1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PFN1 Gene

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

Relevant External Links for PFN1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PFN1 Gene

mRNA expression in normal human tissues for PFN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PFN1 Gene

This gene is overexpressed in Whole Blood (7.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PFN1 Gene

SOURCE GeneReport for Unigene cluster for PFN1 Gene Hs.494691

mRNA Expression by UniProt/SwissProt for PFN1 Gene

Tissue specificity: Expressed in epididymis (at protein level).
genes like me logo Genes that share expressions with PFN1: view

In Situ Assay Products

Orthologs for PFN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PFN1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PFN1 35
  • 98.25 (n)
  • 95.61 (a)
PFN1 36
  • 97 (a)
(Bos Taurus)
Mammalia -- 36
  • 94 (a)
PFN1 35
  • 94.05 (n)
  • 95 (a)
PFN1 36
  • 95 (a)
(Canis familiaris)
Mammalia PFN1 36
  • 91 (a)
(Mus musculus)
Mammalia Pfn1 35
  • 94.52 (n)
  • 95.71 (a)
Pfn1 16
Pfn1 36
  • 96 (a)
(Monodelphis domestica)
Mammalia PFN1 36
  • 90 (a)
(Rattus norvegicus)
Mammalia Pfn1 35
  • 94.52 (n)
  • 95.71 (a)
(Danio rerio)
Actinopterygii pfn2 36
  • 60 (a)
Species with no ortholog for PFN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PFN1 Gene

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

Paralogs for PFN1 Gene

Paralogs for PFN1 Gene

Selected SIMAP similar genes for PFN1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PFN1: view

Variants for PFN1 Gene

Sequence variations from dbSNP and Humsavar for PFN1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs13204 -- 4,945,989(-) TAGTC(A/C/G/T)TGCTG missense, reference, synonymous-codon
rs238241 -- 4,947,777(+) GCCAG(A/G)AGCCC intron-variant
rs238242 -- 4,946,479(+) ATCCC(A/G)TGTTC intron-variant
rs238243 -- 4,946,340(+) ATTCA(A/G)GACCC intron-variant
rs1804219 -- 4,946,790(-) GCAAA(G/T)ACCGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PFN1 Gene

Variant ID Type Subtype PubMed ID
nsv833347 CNV Loss 17160897
nsv833349 CNV Loss 17160897
nsv907619 CNV Loss 21882294
nsv907620 CNV Loss 21882294
nsv833350 CNV Loss 17160897
nsv907621 CNV Loss 21882294

Relevant External Links for PFN1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFN1 Gene

Disorders for PFN1 Gene

(1) OMIM Diseases for PFN1 Gene (176610)


  • 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. {ECO:0000269 PubMed:22801503}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PFN1 Gene

(3) Novoseek inferred disease relationships for PFN1 Gene

Disease -log(P) Hits PubMed IDs
breast cancer 24.7 26
tumors 0 5
cancer 0 2
genes like me logo Genes that share disorders with PFN1: view

Publications for PFN1 Gene

  1. Distinct biochemical characteristics of the two human profilin isoforms. (PMID: 7758455) Gieselmann R. … Witke W. (Eur. J. Biochem. 1995) 3 4 23
  2. Characterization of the three-dimensional solution structure of human profilin: 1H, 13C, and 15N NMR assignments and global folding pattern. (PMID: 8268157) Metzler W.J. … Mueller L. (Biochemistry 1993) 3 4 23
  3. Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis. (PMID: 3356709) Kwiatkowski D.J. … Bruns G.A.P. (J. Biol. Chem. 1988) 2 3 4
  4. Profilin-1 overexpression inhibits proliferation of MDA-MB-231 breast cancer cells partly through p27kip1 upregulation. (PMID: 20143334) Zou L. … Roy P. (J. Cell. Physiol. 2010) 3 23
  5. Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome. (PMID: 1968707) Kwiatkowski D.J. … Morton C.C. (Am. J. Hum. Genet. 1990) 2 3

Products for PFN1 Gene

Sources for PFN1 Gene

Back to Top