Aliases for PFN3 Gene
External Ids for PFN3 Gene
- HGNC: 18627
- Entrez Gene: 345456
- Ensembl: ENSG00000196570
- OMIM: 612812
- UniProtKB: P60673
Previous GeneCards Identifiers for PFN3 Gene
- GC05M176760
- GC05M171747
- GC05M176827
Summaries 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 Shigellosis and Ras signaling pathway. Gene Ontology (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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFN3 Gene
Genomics for PFN3 Gene
GeneHancer (GH) Regulatory Elements for PFN3 Gene
Promoters and enhancers for PFN3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PFN3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PFN3 gene promoter:
Regulatory Element Products
Genomic Locations for PFN3 Gene
Genomic Locations for PFN3 Gene
- chr5:177,400,107-177,400,636
- (GRCh38/hg38)
- Size:
- 530 bases
- Orientation:
- Minus strand
- chr5:176,827,108-176,827,637
- (GRCh37/hg19)
Genomic View for PFN3 Gene
Genes around PFN3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q35.3 by Ensembl
- 5q35.3 by Entrez Gene
- 5q35.3 by HGNC
PFN3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A2RUL3
Protein attributes for PFN3 Gene
- Size:
- 137 amino acids
- Molecular mass:
- 14596 Da
- Quaternary structure:
-
- Interacts with ACTRT3.
Protein Expression for PFN3 Gene
Post-translational modifications for PFN3 Gene
No Post-translational modifications
Other Protein References for PFN3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Cloud-Clone Corp. Antibodies for PFN3
- antibodies-online: Search results for 7 available PFN3 Antibodies ranked by validation data
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-
Quality Products:
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Protein Products
-
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-
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- Search GeneTex for Proteins for PFN3
Assay Products
- antibodies-online: Search results for 3 available PFN3 Elisa Kits ranked by validation data
- Compare Top PFN3 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for PFN3 Gene
Domains & Families for PFN3 Gene
Gene Families for PFN3 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PFN3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PFN3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P60673- Family:
-
- Belongs to the profilin family.
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.
Phenotypes From GWAS Catalog for PFN3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IBA | -- |
| GO:0008289 | lipid binding | IEA | -- |
Phenotypes for PFN3 Gene
- GenomeRNAi human phenotypes for PFN3:
Animal Model Products
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-
-
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CRISPR Products
-
OriGene CRISPR knockouts for PFN3
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- Applied Biological Materials CRISPR for PFN3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PFN3
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miRNA Products
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Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PFN3
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- genomics-online: shRNA clones - Search results for available PFN3 gene related products
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Clone Products
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- VectorBuilder custom plasmid, inducible vectors for PFN3
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PFN3 gene related products
- orf clones - Search results for available PFN3 gene related products
- Applied Biological Materials Clones for PFN3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PFN3
-
ViGene Biosciences adenoviral particle packaged cDNA for PFN3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PFN3 gene
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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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 4 |
| nucleus | 3 |
| cytosol | 3 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PFN3 Gene
Pathways & Interactions for PFN3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Ras signaling pathway | ||
| 2 | Regulation of actin cytoskeleton | ||
| 3 | Salmonella infection (KEGG) | ||
| 4 | Shigellosis | ||
| 5 | Association Between Physico-Chemical Features and Toxicity Associated Pathways | ||
Pathways by source for PFN3 Gene
1 BioSystems pathway for PFN3 Gene
4 KEGG pathways for PFN3 Gene
Interacting Proteins for PFN3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030036 | actin cytoskeleton organization | IEA | -- |
| GO:0030833 | regulation of actin filament polymerization | IBA | -- |
| GO:0032233 | positive regulation of actin filament bundle assembly | IBA | -- |
No data available for SIGNOR curated interactions for PFN3 Gene
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:
CRISPR Products
-
OriGene CRISPR knockouts for PFN3
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- Applied Biological Materials CRISPR for PFN3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PFN3
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miRNA Products
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Inhibitory RNA Products
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Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PFN3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PFN3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PFN3 gene related products
- orf clones - Search results for available PFN3 gene related products
- Applied Biological Materials Clones for PFN3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PFN3 Gene
mRNA differential expression in normal tissues according to GTEx for PFN3 Gene
This gene is overexpressed in Testis (x47.9).
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
NURSA nuclear receptor signaling pathways regulating expression of PFN3 Gene:
PFN3SOURCE GeneReport for Unigene cluster for PFN3 Gene:
Hs.130196mRNA Expression by UniProt/SwissProt for PFN3 Gene:
P60673-PROF3_HUMAN
Tissue specificity:
Testis specific.
Primer Products
-
OriGene qPCR primer pairs for PFN3
- genomics-online: primer clones - Search results for available PFN3 gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PFN3 Gene
Orthologs for PFN3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PFN3 33 |
|
||
| cow (Bos Taurus) |
Mammalia | PFN3 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Pfn3 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pfn3 33 |
|
||
| dog (Canis familiaris) |
Mammalia | PFN3 33 34 |
|
||
| chicken (Gallus gallus) |
Aves | PFN3 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PFN3 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | pfn1 34 |
|
ManyToMany |
- Species where no ortholog for PFN3 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)
- 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)
Paralogs for PFN3 Gene
Variants for PFN3 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs199988476 | pathogenic, likely-benign, likely-pathogenic, Factor XII deficiency disease, Hypophosphatemic Nephrolithiasis/Osteoporosis, F12-Related Disorders | 177,402,460(-) | C/G/T | upstream_transcript_variant | |
| rs1000253382 | -- | 177,402,599(-) | G/A | upstream_transcript_variant | |
| rs1001326017 | -- | 177,401,256(-) | G/T | upstream_transcript_variant | |
| rs1001479722 | -- | 177,401,482(-) | T/C | upstream_transcript_variant | |
| rs1002201363 | -- | 177,401,109(-) | A/T | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv600364 | CNV | loss | 21841781 |
| nsv509103 | CNV | insertion | 20534489 |
| nsv471057 | CNV | loss | 18288195 |
| nsv1161313 | CNV | duplication | 26073780 |
| nsv1161312 | CNV | deletion | 26073780 |
| nsv1161311 | CNV | duplication | 26073780 |
| dgv733n27 | CNV | loss | 19166990 |
| dgv10185n54 | CNV | loss | 21841781 |
| dgv10184n54 | CNV | loss | 21841781 |
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)
Additional Variant Information for PFN3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PFN3
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFN3 Gene
Disorders for PFN3 Gene
Additional Disease Information for 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
- 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 22 58
- 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 biology 2009) 3 4 22 58
- The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 3 4 58
- Natural antisense transcription from a comparative perspective. (PMID: 27241791) Piatek MJ … Werner A (Genomics 2016) 3 58
- Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. (PMID: 22916037) Inouye M … de Bakker PI (PLoS genetics 2012) 3 58
Products for PFN3 Gene
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 7 available PFN3 Antibodies ranked by validation data
- Compare Top PFN3 Antibodies
- Quality Products:
- antibodies-online: Search results for 3 available PFN3 Elisa Kits ranked by validation data
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Sources for PFN3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
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- (114) diseasecard
- (115) NIH Rare Diseases
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- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
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- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew