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Aliases for PFN3 Gene

Aliases for PFN3 Gene

  • Profilin 3 2 3 5
  • Profilin III 4

External Ids for PFN3 Gene

Previous GeneCards Identifiers for PFN3 Gene

  • GC05M176760
  • GC05M171747
  • GC05M176827

Summaries for PFN3 Gene

Entrez Gene Summary for PFN3 Gene

  • The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PFN3 Gene

PFN3 (Profilin 3) is a Protein Coding gene. Among its related pathways are Regulation of actin cytoskeleton and Shigellosis. GO annotations related to this gene include actin binding and lipid binding. An important paralog of this gene is PFN1.

UniProtKB/Swiss-Prot for PFN3 Gene

  • Binds to actin and affects the structure of the cytoskeleton. Slightly reduces actin polymerization. Binds to poly-L-proline, phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 4-phosphate (PtdIns(4)P). May be involved in spermatogenesis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFN3 Gene

Genomics for PFN3 Gene

Regulatory Elements for PFN3 Gene

Genomic Location for PFN3 Gene

Chromosome:
5
Start:
177,400,107 bp from pter
End:
177,400,636 bp from pter
Size:
530 bases
Orientation:
Minus strand

Genomic View for PFN3 Gene

Genes around PFN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFN3 Gene

Proteins for PFN3 Gene

  • Protein details for PFN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60673-PROF3_HUMAN
    Recommended name:
    Profilin-3
    Protein Accession:
    P60673
    Secondary Accessions:
    • A2RUL3

    Protein attributes for PFN3 Gene

    Size:
    137 amino acids
    Molecular mass:
    14596 Da
    Quaternary structure:
    • Interacts with ACTRT3.

neXtProt entry for PFN3 Gene

Proteomics data for PFN3 Gene at MOPED

Post-translational modifications for PFN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PFN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PFN3 Gene

Domains & Families for PFN3 Gene

Protein Domains for PFN3 Gene

Suggested Antigen Peptide Sequences for PFN3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P60673

UniProtKB/Swiss-Prot:

PROF3_HUMAN :
  • Belongs to the profilin family.
Family:
  • Belongs to the profilin family.
genes like me logo Genes that share domains with PFN3: view

No data available for Gene Families for PFN3 Gene

Function for PFN3 Gene

Molecular function for PFN3 Gene

UniProtKB/Swiss-Prot Function:
Binds to actin and affects the structure of the cytoskeleton. Slightly reduces actin polymerization. Binds to poly-L-proline, phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 4-phosphate (PtdIns(4)P). May be involved in spermatogenesis.

Gene Ontology (GO) - Molecular Function for PFN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IBA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with PFN3: view

Phenotypes for PFN3 Gene

genes like me logo Genes that share phenotypes with PFN3: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PFN3 Gene

Localization for PFN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFN3 Gene

Cytoplasm, cytoskeleton. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PFN3 Gene COMPARTMENTS Subcellular localization image for PFN3 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for PFN3 Gene

Pathways & Interactions for PFN3 Gene

genes like me logo Genes that share pathways with PFN3: view

Pathways by source for PFN3 Gene

Gene Ontology (GO) - Biological Process for PFN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030036 actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with PFN3: view

No data available for SIGNOR curated interactions for PFN3 Gene

Drugs & Compounds for PFN3 Gene

No Compound Related Data Available

Transcripts for PFN3 Gene

mRNA/cDNA for PFN3 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PFN3 Gene

Profilin 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PFN3 Gene

No ASD Table

Relevant External Links for PFN3 Gene

GeneLoc Exon Structure for
PFN3
ECgene alternative splicing isoforms for
PFN3

Expression for PFN3 Gene

mRNA expression in normal human tissues for PFN3 Gene

mRNA differential expression in normal tissues according to GTEx for PFN3 Gene

This gene is overexpressed in Testis (x47.9).

Protein differential expression in normal tissues from HIPED for PFN3 Gene

This gene is overexpressed in Rectum (15.4), NK cells (14.1), and Colon (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PFN3 Gene



SOURCE GeneReport for Unigene cluster for PFN3 Gene Hs.130196

mRNA Expression by UniProt/SwissProt for PFN3 Gene

P60673-PROF3_HUMAN
Tissue specificity: Testis specific.
genes like me logo Genes that share expression patterns with PFN3: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for PFN3 Gene

Orthologs for PFN3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PFN3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PFN3 35
  • 86.62 (n)
  • 89.78 (a)
PFN3 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PFN3 35
  • 82.48 (n)
  • 86.86 (a)
PFN3 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pfn3 35
  • 85.19 (n)
  • 89.63 (a)
Pfn3 16
Pfn3 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PFN3 35
  • 99.51 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Pfn3 35
  • 84.94 (n)
  • 90.37 (a)
chicken
(Gallus gallus)
Aves PFN3 35
  • 59.45 (n)
  • 55.22 (a)
PFN3 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PFN3 36
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pfn1 36
  • 29 (a)
ManyToMany
Species with no ortholog for PFN3:
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 PFN3 Gene

ENSEMBL:
Gene Tree for PFN3 (if available)
TreeFam:
Gene Tree for PFN3 (if available)

Paralogs for PFN3 Gene

Paralogs for PFN3 Gene

(2) SIMAP similar genes for PFN3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PFN3: view

Variants for PFN3 Gene

Sequence variations from dbSNP and Humsavar for PFN3 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs4976691 -- 177,400,814(+) gtaat(C/G)ccagc upstream-variant-2KB
rs6869526 -- 177,400,645(+) AAGGC(C/T)TGCGG upstream-variant-2KB
rs17876038 -- 177,400,707(-) GTGGT(A/C)GCTCC upstream-variant-2KB
rs17876049 -- 177,400,752(-) ACTGC(C/G)ACAGC upstream-variant-2KB
rs35930979 -- 177,399,930(-) CTGCT(-/C)CCTTG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for PFN3 Gene

Variant ID Type Subtype PubMed ID
dgv6379n71 CNV Loss 21882294
nsv509103 CNV Insertion 20534489
nsv471057 CNV Loss 18288195
nsv883163 CNV Loss 21882294
nsv883164 CNV Loss 21882294
dgv733n27 CNV Loss 19166990
dgv6381n71 CNV Loss 21882294
nsv883167 CNV Loss 21882294
dgv6382n71 CNV Loss 21882294

Variation tolerance for PFN3 Gene

Residual Variation Intolerance Score: 45.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PFN3 Gene

HapMap Linkage Disequilibrium report
PFN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFN3 Gene

Disorders for PFN3 Gene

Relevant External Links for PFN3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PFN3

No disorders were found for PFN3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PFN3 Gene

Publications for PFN3 Gene

  1. Genomic organization of profilin-III and evidence for a transcript expressed exclusively in testis. (PMID: 11867228) Braun A. … Brandau O. (Gene 2002) 2 3 4 23 67
  2. Testis-expressed profilins 3 and 4 show distinct functional characteristics and localize in the acroplaxome-manchette complex in spermatids. (PMID: 19419568) Behnen M. … Kirchhoff C. (BMC Cell Biol. 2009) 3 23
  3. A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. (PMID: 22396660) Urabe Y. … Matsuda K. (PLoS Genet. 2012) 3
  4. Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. (PMID: 22916037) Inouye M. … de Bakker P.I. (PLoS Genet. 2012) 3
  5. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) KAPttgen A. … Fox C.S. (Nat. Genet. 2010) 3

Products for PFN3 Gene

Sources for PFN3 Gene

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