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 ... See more...

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 4
  • 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 Signaling by Robo receptor and Signaling by Wnt. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is PFN2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for PFN1 Gene

Genomics for PFN1 Gene

GeneHancer (GH) Regulatory Elements for PFN1 Gene

Promoters and enhancers for PFN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PFN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PFN1

Top Transcription factor binding sites by QIAGEN in the PFN1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • NF-kappaB1

Genomic Locations for PFN1 Gene

Genomic Locations for PFN1 Gene
chr17:4,945,650-4,949,086
(GRCh38/hg38)
Size:
3,437 bases
Orientation:
Minus strand
chr17:4,848,947-4,852,356
(GRCh37/hg19)
Size:
3,410 bases
Orientation:
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:
    P07737-PROF1_HUMAN
    Recommended name:
    Profilin-1
    Protein Accession:
    P07737
    Secondary Accessions:
    • Q53Y44

    Protein attributes for PFN1 Gene

    Size:
    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 Lys38, Lys70, Lys91, Lys105, Lys108, Lys126, and Lys127
  • Modification sites at PhosphoSitePlus

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

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

Protein Domains for PFN1 Gene

Blocks:
  • Mammal profilin signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PFN1 Gene

GenScript: Design optimal peptide antigens:
  • Profilin I (PROF1_HUMAN)
  • Profilin (Q53Y44_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07737

UniProtKB/Swiss-Prot:

PROF1_HUMAN :
  • Belongs to the profilin family.
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

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.
GENATLAS Biochemistry:
profilin 1,149kDa,G-actin binding protein,preventing its polymerization to F-actin

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 22681889
GO:0003779 actin binding IPI,IEA 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:
  • Pfn1 Pfn1<tm1Wit>
  • Pfn1 Pfn1<tm1a(EUCOMM)Wtsi>
  • Pfn1 Pfn1<tm2.1(GFP/ACTB)Wit>

Animal Model Products

CRISPR Products

miRNA for PFN1 Gene

miRTarBase miRNAs that target PFN1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFN1

Clone Products

  • Addgene plasmids for PFN1

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

COMPARTMENTS
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
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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:0005634 nucleus IEA,IDA 24700464
GO:0005737 cytoplasm IBA,IDA 24700464
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005925 focal adhesion HDA 21423176
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

Pathways by source for PFN1 Gene

3 GeneGo (Thomson Reuters) pathways for PFN1 Gene
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Development Slit-Robo signaling
  • Immune response CCR3 signaling in eosinophils
5 Qiagen pathways for PFN1 Gene
  • Actin Nucleation and Branching
  • Actin-Based Motility by Rho Family GTPases
  • Fc-GammaR-Mediated Phagocytosis in Macrophages
  • Integrin Pathway
  • RhoA Pathway
1 Cell Signaling Technology pathway for PFN1 Gene

SIGNOR curated interactions for PFN1 Gene

Activates:
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:0030833 regulation of actin filament polymerization IBA 21873635
genes like me logo Genes that share ontologies with PFN1: view

Drugs & Compounds for PFN1 Gene

(4) 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
Dihydroartemisinin Experimental, Investigational Pharma Target, ligand 113

(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

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFN1

Clone Products

  • Addgene plasmids for PFN1

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: -
SP6:

Relevant External Links for PFN1 Gene

GeneLoc Exon Structure for
PFN1

Expression for PFN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PFN1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PFN1

SOURCE GeneReport for Unigene cluster for PFN1 Gene:

Hs.494691

mRNA Expression by UniProt/SwissProt for PFN1 Gene:

P07737-PROF1_HUMAN
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(3.3)
  • 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
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with PFN1: view

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
chimpanzee
(Pan troglodytes)
Mammalia PFN1 31 30
  • 98.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pfn1 17 31 30
  • 94.52 (n)
rat
(Rattus norvegicus)
Mammalia Pfn1 30
  • 94.52 (n)
cow
(Bos Taurus)
Mammalia PFN1 31 30
  • 94.05 (n)
OneToMany
-- 31
  • 94 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PFN1 31
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PFN1 31
  • 90 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pfn2 31
  • 60 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for PFN1 (if available)
TreeFam:
Gene Tree for PFN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PFN1: view image

Paralogs for PFN1 Gene

Paralogs for PFN1 Gene

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

  • PROF1_HUMAN
  • I3L3D5_HUMAN
  • K7EJ44_HUMAN
genes like me logo Genes that share paralogs with PFN1: view

Variants for PFN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PFN1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
646360 Uncertain Significance: not provided 4,945,972(-) TT/AC MISSENSE_VARIANT
651629 Uncertain Significance: not provided 4,945,970(-) CCTT/C INFRAME_DELETION
rs13204 Benign: not specified 4,945,989(-) G/A SYNONYMOUS_VARIANT
rs140547520 Pathogenic: Amyotrophic lateral sclerosis 18. Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] 4,945,973(-) T/Cp.Glu117Gly MISSENSE_VARIANT
rs387907264 Pathogenic: Amyotrophic lateral sclerosis 18. Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] 4,946,742(-) A/Cp.Cys71Gly MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PFN1 Gene

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

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

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)
PFN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PFN1

SNP Genotyping and Copy Number Assay Products

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

Disorders for PFN1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 18
  • als18
amyotrophic lateral sclerosis 1
  • als1
lateral sclerosis
  • adult-onset primary lateral sclerosis
pollen allergy
  • hay fever
frontotemporal dementia
  • ftd
- elite association - COSMIC cancer census association via MalaCards
Search PFN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PROF1_HUMAN
  • 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 23 54
  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 23 54
  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 54
  4. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. (PMID: 22801503) Wu CH … Landers JE (Nature 2012) 3 4 54
  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 54

Products for PFN1 Gene

Sources for PFN1 Gene