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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
17
Cytoband
p13.2
Chromosome location (bp)
4945652 - 4949061
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Actin-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000774[adenyl-nucleotide exchange factor activity] GO:0001784[phosphotyrosine residue binding] GO:0001843[neural tube closure] GO:0003723[RNA binding] GO:0003779[actin binding] GO:0003785[actin monomer binding] GO:0005515[protein binding] GO:0005546[phosphatidylinositol-4,5-bisphosphate binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005925[focal adhesion] GO:0005938[cell cortex] GO:0006357[regulation of transcription by RNA polymerase II] GO:0010634[positive regulation of epithelial cell migration] GO:0016020[membrane] GO:0016043[cellular component organization] GO:0030036[actin cytoskeleton organization] GO:0030833[regulation of actin filament polymerization] GO:0030837[negative regulation of actin filament polymerization] GO:0030838[positive regulation of actin filament polymerization] GO:0031267[small GTPase binding] GO:0032232[negative regulation of actin filament bundle assembly] GO:0032233[positive regulation of actin filament bundle assembly] GO:0032781[positive regulation of ATP-dependent activity] GO:0044087[regulation of cellular component biogenesis] GO:0045296[cadherin binding] GO:0050804[modulation of chemical synaptic transmission] GO:0050821[protein stabilization] GO:0051497[negative regulation of stress fiber assembly] GO:0060074[synapse maturation] GO:0070062[extracellular exosome] GO:0070064[proline-rich region binding] GO:0072562[blood microparticle] GO:0098885[modification of postsynaptic actin cytoskeleton] GO:0098978[glutamatergic synapse] GO:0110053[regulation of actin filament organization] GO:1900029[positive regulation of ruffle assembly]
Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
