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Aliases for PFN1 Gene

Aliases for PFN1 Gene

  • Profilin 1 2 3 5
  • Epididymis Tissue Protein Li 184a 3 4
  • Profilin I 3 4
  • Profilin-1 3
  • ALS18 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 Amyotrophic Lateral Sclerosis 1. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Developmental Biology. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is PFN2.

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

Additional gene information for PFN1 Gene

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

Genomics for PFN1 Gene

GeneHancer (GH) Regulatory Elements for PFN1 Gene

Promoters and enhancers for PFN1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I004937 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +4.1 4069 14.4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC ENO3 RNF167 PFN1 SLC25A11 SPAG7 CHRNE CAMTA2 ZNF594 LOC100130950 ZZEF1
GH17I004996 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.5 -49.8 -49761 4.2 HDGF MLX ARID4B SIN3A DMAP1 YBX1 YY1 ZNF766 ZNF207 ZNF143 INCA1 KIF1C CHRNE ZNF232 NUP88 MIS12 ZZEF1 CAMTA2 DERL2 ENSG00000234203
GH17I004847 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 15 +99.5 99454 4.4 PKNOX1 ZBTB6 MAX ZBTB40 RFX5 SMC3 RCOR1 FOS SMARCE1 STAT1 CHRNE ENO3 PFN1 ZMYND15 ARRB2 C17orf107 PLD2 CXCL16 PELP1 LOC101559451
GH17I004852 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +95.5 95451 3.3 NFIA NFIB CBFB ZIC2 ZFHX2 NFIC POLR2A KLF16 ZNF547 PRDM10 CHRNE MINK1 PLD2 ZMYND15 CXCL16 RNF167 SLC25A11 SPAG7 ENO3 PFN1
GH17I004837 Enhancer 1 ENCODE dbSUPER 10.6 +110.0 109977 3.9 HDAC1 HDGF PKNOX1 TAF9B ARNT NFRKB ZSCAN4 ZBTB40 ZNF335 TCF12 CHRNE ENO3 SPAG7 PLD2 VMO1 GLTPD2 CXCL16 ZMYND15 ENSG00000234203 PFN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PFN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PFN1 gene promoter:

Genomic Locations for PFN1 Gene

Genomic Locations for PFN1 Gene
3,437 bases
Minus strand

Genomic View for PFN1 Gene

Genes around PFN1 on UCSC Golden Path with GeneCards custom track

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

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 isoforms=38, Lys54, Lys70, isoforms=91, Lys105, isoforms=126, and Lys127

Other Protein References for PFN1 Gene

No data available for DME Specific Peptides for PFN1 Gene

Domains & Families for PFN1 Gene

Gene Families for PFN1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

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



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

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.

Phenotypes From GWAS Catalog for PFN1 Gene

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:0003723 RNA binding HDA,IDA 22681889
GO:0003779 actin binding IEA,IPI 7758455
GO:0003785 actin monomer binding IDA 18573880
GO:0005515 protein binding IPI 9822597
genes like me logo Genes that share ontologies with PFN1: view
genes like me logo Genes that share phenotypes with PFN1: view

Human Phenotype Ontology for PFN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PFN1 Gene

MGI Knock Outs for PFN1:

Animal Model Products

CRISPR Products

miRNA for PFN1 Gene

miRTarBase miRNAs that target PFN1

Inhibitory RNA Products

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

Localization for PFN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFN1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PFN1 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005634 nucleus IEA,IDA 24700464
GO:0005737 cytoplasm IEA,IDA 24700464
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PFN1: view

Pathways & Interactions for PFN1 Gene

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

SIGNOR curated interactions for PFN1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PFN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0010634 positive regulation of epithelial cell migration IMP 23153535
GO:0030036 actin cytoskeleton organization IEA --
GO:0030837 negative regulation of actin filament polymerization IDA 7758455
genes like me logo Genes that share ontologies with PFN1: view

Drugs & Compounds for PFN1 Gene

(3) Drugs for PFN1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
7-HYDROXY-4-METHYL-3-(2-HYDROXY-ETHYL)COUMARIN Experimental Pharma Target 0

(5) Additional Compounds for PFN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for PFN1 Gene

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

This gene is overexpressed in Whole Blood (x7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PFN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PFN1 Gene:


SOURCE GeneReport for Unigene cluster for PFN1 Gene:


mRNA Expression by UniProt/SwissProt for PFN1 Gene:

Tissue specificity: Expressed in epididymis (at protein level).

Evidence on tissue expression from TISSUES for PFN1 Gene

  • Intestine(4.9)
  • Nervous system(4.9)
  • Lung(4.8)
  • Pancreas(4.8)
  • Liver(4.6)
  • Skin(4.4)
  • Blood(4.2)
  • Stomach(3.7)
  • Kidney(3.2)
  • Eye(3.1)
  • Bone(2.9)
  • Heart(2.8)
  • Lymph node(2.7)
  • Muscle(2.5)
  • Spleen(2.4)
  • Bone marrow(2.3)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PFN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
  • biliary tract
  • liver
  • stomach
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with PFN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Protein tissue co-expression partners for PFN1 Gene

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 33 34
  • 98.25 (n)
(Mus musculus)
Mammalia Pfn1 33 16 34
  • 94.52 (n)
(Rattus norvegicus)
Mammalia Pfn1 33
  • 94.52 (n)
(Bos Taurus)
Mammalia PFN1 33 34
  • 94.05 (n)
-- 34
  • 94 (a)
(Canis familiaris)
Mammalia PFN1 34
  • 91 (a)
(Monodelphis domestica)
Mammalia PFN1 34
  • 90 (a)
(Danio rerio)
Actinopterygii pfn2 34
  • 60 (a)
Species where no ortholog for PFN1 was found in the sources mined by GeneCards:
  • 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

(3) 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 Variation AA Info Type
rs140547520 pathogenic, Amyotrophic lateral sclerosis 18, Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] 4,945,973(-) T/C 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs387907264 pathogenic, Amyotrophic lateral sclerosis 18, Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] 4,946,742(-) A/C coding_sequence_variant, missense_variant
rs387907265 likely-pathogenic, pathogenic, Lower limb muscle weakness, Amyotrophic lateral sclerosis 18, Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] 4,945,982(-) A/C/G 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs387907266 pathogenic, Amyotrophic lateral sclerosis 18, Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] 4,945,970(-) C/A 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs13204 benign, not specified 4,945,989(-) G/A/C/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv833350 CNV loss 17160897
nsv833349 CNV loss 17160897
nsv833347 CNV loss 17160897
nsv574275 CNV gain 21841781
nsv574273 CNV gain 21841781
nsv1121928 CNV deletion 24896259
nsv1070798 CNV deletion 25765185

Variation tolerance for PFN1 Gene

Residual Variation Intolerance Score: 55.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.50; 64.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PFN1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for PFN1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PFN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 18
  • als18
amyotrophic lateral sclerosis 1
  • als1
gallbladder adenoma
lateral sclerosis
  • motor neuron disease
  • bacillary dysentery
- elite association - COSMIC cancer census association via MalaCards
Search PFN1 in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for PFN1

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

No data available for Genatlas for PFN1 Gene

Publications for PFN1 Gene

  1. Distinct biochemical characteristics of the two human profilin isoforms. (PMID: 7758455) Gieselmann R … Witke W (European journal of biochemistry 1995) 3 4 22 58
  2. Characterization of the three-dimensional solution structure of human profilin: 1H, 13C, and 15N NMR assignments and global folding pattern. (PMID: 8268157) Metzler WJ … Mueller L (Biochemistry 1993) 3 4 22 58
  3. Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis. (PMID: 3356709) Kwiatkowski DJ … Bruns GA (The Journal of biological chemistry 1988) 2 3 4 58
  4. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. (PMID: 22801503) Wu CH … Landers JE (Nature 2012) 3 4 58
  5. Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. (PMID: 20736409) Li J … Liu Y (Molecular & cellular proteomics : MCP 2010) 3 4 58

Products for PFN1 Gene

Sources for PFN1 Gene

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