UniProtKB - P07737 (PROF1_HUMAN)
Protein
Profilin-1
Gene
PFN1
Organism
Homo sapiens (Human)
Status
Functioni
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.1 Publication
GO - Molecular functioni
- actin binding Source: UniProtKB
- actin monomer binding Source: UniProtKB
- adenyl-nucleotide exchange factor activity Source: UniProtKB
- cadherin binding Source: BHF-UCL
- phosphatidylinositol-4,5-bisphosphate binding Source: UniProtKB
- phosphotyrosine residue binding Source: UniProtKB
- proline-rich region binding Source: UniProtKB
- RNA binding Source: UniProtKB
GO - Biological processi
- actin cytoskeleton organization Source: InterPro
- negative regulation of actin filament bundle assembly Source: UniProtKB
- negative regulation of actin filament polymerization Source: UniProtKB
- negative regulation of stress fiber assembly Source: UniProtKB
- positive regulation of actin filament bundle assembly Source: GO_Central
- positive regulation of actin filament polymerization Source: UniProtKB
- positive regulation of ATPase activity Source: UniProtKB
- positive regulation of epithelial cell migration Source: UniProtKB
- positive regulation of ruffle assembly Source: UniProtKB
- protein stabilization Source: UniProtKB
- regulation of actin filament polymerization Source: GO_Central
- Wnt signaling pathway, planar cell polarity pathway Source: Reactome
Keywordsi
Molecular function | Actin-binding |
Enzyme and pathway databases
PathwayCommonsi | P07737 |
Reactomei | R-HSA-114608, Platelet degranulation R-HSA-376176, Signaling by ROBO receptors R-HSA-4086400, PCP/CE pathway R-HSA-5663220, RHO GTPases Activate Formins |
SIGNORi | P07737 |
Names & Taxonomyi
Protein namesi | Recommended name: Profilin-1Alternative name(s): Epididymis tissue protein Li 184a Profilin I |
Gene namesi | Name:PFN1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8881, PFN1 |
MIMi | 176610, gene |
neXtProti | NX_P07737 |
VEuPathDBi | HostDB:ENSG00000108518.7 |
Subcellular locationi
Cytoskeleton
Cytoskeleton
- cytoskeleton Source: UniProtKB-SubCell
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- blood microparticle Source: UniProtKB
- extracellular exosome Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Other locations
- cell cortex Source: UniProtKB
- cytoplasm Source: UniProtKB
- focal adhesion Source: UniProtKB
- membrane Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Amyotrophic lateral sclerosis 18 (ALS18)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068925 | 71 | C → G in ALS18; the mutant protein is detected in the insoluble fraction of cells. 1 PublicationCorresponds to variant dbSNP:rs387907264EnsemblClinVar. | 1 | |
Natural variantiVAR_068926 | 114 | M → T in ALS18; the mutant protein is detected in the insoluble fraction of cells. 1 PublicationCorresponds to variant dbSNP:rs387907265EnsemblClinVar. | 1 | |
Natural variantiVAR_068927 | 117 | E → G in ALS18; unknown pathological significance; like the wild-type the mutant protein is detected in the soluble fraction of cells. 1 PublicationCorresponds to variant dbSNP:rs140547520EnsemblClinVar. | 1 | |
Natural variantiVAR_068928 | 118 | G → V in ALS18; the mutant protein is detected in the insoluble fraction of cells. 1 PublicationCorresponds to variant dbSNP:rs387907266EnsemblClinVar. | 1 |
Keywords - Diseasei
Amyotrophic lateral sclerosis, Disease variant, NeurodegenerationOrganism-specific databases
DisGeNETi | 5216 |
GeneReviewsi | PFN1 |
MalaCardsi | PFN1 |
MIMi | 614808, phenotype |
OpenTargetsi | ENSG00000108518 |
Orphaneti | 803, Amyotrophic lateral sclerosis |
PharmGKBi | PA33219 |
Miscellaneous databases
Pharosi | P07737, Tbio |
Protein family/group databases
Allergomei | 907, Hom s Profilin |
Chemistry databases
DrugBanki | DB07908, 7-HYDROXY-4-METHYL-3-(2-HYDROXY-ETHYL)COUMARIN DB11638, Artenimol |
Genetic variation databases
BioMutai | PFN1 |
DMDMi | 130979 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources1 Publication | |||
ChainiPRO_0000199571 | 2 – 140 | Profilin-1Add BLAST | 139 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources1 Publication | 1 | |
Modified residuei | 28 | PhosphoserineBy similarity | 1 | |
Cross-linki | 54 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Cross-linki | 54 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate | ||
Modified residuei | 57 | PhosphoserineCombined sources | 1 | |
Modified residuei | 85 | PhosphoserineCombined sources | 1 | |
Modified residuei | 105 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 108 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 129 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 138 | Phosphoserine; by ROCK11 Publication | 1 |
Post-translational modificationi
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.1 Publication
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
CPTACi | CPTAC-253 CPTAC-254 |
EPDi | P07737 |
jPOSTi | P07737 |
MassIVEi | P07737 |
PaxDbi | P07737 |
PeptideAtlasi | P07737 |
PRIDEi | P07737 |
ProteomicsDBi | 52024 |
TopDownProteomicsi | P07737 |
2D gel databases
DOSAC-COBS-2DPAGEi | P07737 |
OGPi | P07737 |
REPRODUCTION-2DPAGEi | IPI00216691 |
UCD-2DPAGEi | P07737 |
PTM databases
GlyGeni | P07737, 1 site |
iPTMneti | P07737 |
MetOSitei | P07737 |
PhosphoSitePlusi | P07737 |
SwissPalmi | P07737 |
Expressioni
Tissue specificityi
Expressed in epididymis (at protein level).1 Publication
Gene expression databases
Bgeei | ENSG00000108518, Expressed in granulocyte and 243 other tissues |
ExpressionAtlasi | P07737, baseline and differential |
Genevisiblei | P07737, HS |
Organism-specific databases
HPAi | ENSG00000108518, Tissue enhanced (blood) |
Interactioni
Subunit structurei
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.
4 PublicationsBinary interactionsi
Hide detailsP07737
GO - Molecular functioni
- actin binding Source: UniProtKB
- actin monomer binding Source: UniProtKB
- cadherin binding Source: BHF-UCL
- phosphotyrosine residue binding Source: UniProtKB
- proline-rich region binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 111237, 125 interactors |
CORUMi | P07737 |
DIPi | DIP-30N |
IntActi | P07737, 72 interactors |
MINTi | P07737 |
STRINGi | 9606.ENSP00000225655 |
Miscellaneous databases
RNActi | P07737, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | P07737 |
SMRi | P07737 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P07737 |
Family & Domainsi
Sequence similaritiesi
Belongs to the profilin family.Curated
Phylogenomic databases
eggNOGi | KOG1755, Eukaryota |
GeneTreei | ENSGT00940000153664 |
HOGENOMi | CLU_123405_1_0_1 |
InParanoidi | P07737 |
OMAi | KKCFEMA |
OrthoDBi | 1428600at2759 |
PhylomeDBi | P07737 |
TreeFami | TF331744 |
Family and domain databases
CDDi | cd00148, PROF, 1 hit |
InterProi | View protein in InterPro IPR005455, PFN IPR029892, PFN1 IPR036140, PFN_sf IPR005454, Profilin1/2/3_vertebrate IPR027310, Profilin_CS |
PANTHERi | PTHR13936:SF14, PTHR13936:SF14, 1 hit |
Pfami | View protein in Pfam PF00235, Profilin, 1 hit |
PRINTSi | PR01639, PROFILINMAML |
SMARTi | View protein in SMART SM00392, PROF, 1 hit |
SUPFAMi | SSF55770, SSF55770, 1 hit |
PROSITEi | View protein in PROSITE PS00414, PROFILIN, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
P07737-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAGWNAYIDN LMADGTCQDA AIVGYKDSPS VWAAVPGKTF VNITPAEVGV
60 70 80 90 100
LVGKDRSSFY VNGLTLGGQK CSVIRDSLLQ DGEFSMDLRT KSTGGAPTFN
110 120 130 140
VTVTKTDKTL VLLMGKEGVH GGLINKKCYE MASHLRRSQY
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketI3L3D5 | I3L3D5_HUMAN | Profilin | PFN1 | 165 | Annotation score: | ||
K7EJ44 | K7EJ44_HUMAN | Profilin | PFN1 hCG_32691 | 104 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068925 | 71 | C → G in ALS18; the mutant protein is detected in the insoluble fraction of cells. 1 PublicationCorresponds to variant dbSNP:rs387907264EnsemblClinVar. | 1 | |
Natural variantiVAR_068926 | 114 | M → T in ALS18; the mutant protein is detected in the insoluble fraction of cells. 1 PublicationCorresponds to variant dbSNP:rs387907265EnsemblClinVar. | 1 | |
Natural variantiVAR_068927 | 117 | E → G in ALS18; unknown pathological significance; like the wild-type the mutant protein is detected in the soluble fraction of cells. 1 PublicationCorresponds to variant dbSNP:rs140547520EnsemblClinVar. | 1 | |
Natural variantiVAR_068928 | 118 | G → V in ALS18; the mutant protein is detected in the insoluble fraction of cells. 1 PublicationCorresponds to variant dbSNP:rs387907266EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J03191 mRNA Translation: AAA36486.1 GU727630 mRNA Translation: ADU87632.1 BT007001 mRNA Translation: AAP35647.1 AK312168 mRNA Translation: BAG35102.1 CR407670 mRNA Translation: CAG28598.1 CH471108 Genomic DNA Translation: EAW90381.1 CH471108 Genomic DNA Translation: EAW90383.1 CH471108 Genomic DNA Translation: EAW90384.1 BC002475 mRNA Translation: AAH02475.1 BC006768 mRNA Translation: AAH06768.1 BC013439 mRNA Translation: AAH13439.1 BC015164 mRNA Translation: AAH15164.1 BC057828 mRNA Translation: AAH57828.1 |
CCDSi | CCDS11061.1 |
PIRi | A28622 |
RefSeqi | NP_005013.1, NM_005022.3 |
Genome annotation databases
Ensembli | ENST00000225655; ENSP00000225655; ENSG00000108518 |
GeneIDi | 5216 |
KEGGi | hsa:5216 |
UCSCi | uc002gaa.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J03191 mRNA Translation: AAA36486.1 GU727630 mRNA Translation: ADU87632.1 BT007001 mRNA Translation: AAP35647.1 AK312168 mRNA Translation: BAG35102.1 CR407670 mRNA Translation: CAG28598.1 CH471108 Genomic DNA Translation: EAW90381.1 CH471108 Genomic DNA Translation: EAW90383.1 CH471108 Genomic DNA Translation: EAW90384.1 BC002475 mRNA Translation: AAH02475.1 BC006768 mRNA Translation: AAH06768.1 BC013439 mRNA Translation: AAH13439.1 BC015164 mRNA Translation: AAH15164.1 BC057828 mRNA Translation: AAH57828.1 |
CCDSi | CCDS11061.1 |
PIRi | A28622 |
RefSeqi | NP_005013.1, NM_005022.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1AWI | X-ray | 2.20 | A/B | 3-140 | [»] | |
1CF0 | X-ray | 2.20 | A/B | 3-140 | [»] | |
1CJF | X-ray | 2.30 | A/B | 2-140 | [»] | |
1FIK | X-ray | 2.30 | A | 2-140 | [»] | |
1FIL | X-ray | 2.00 | A | 2-140 | [»] | |
1PFL | NMR | - | A | 2-140 | [»] | |
2PAV | X-ray | 1.80 | P | 2-140 | [»] | |
2PBD | X-ray | 1.50 | P | 2-140 | [»] | |
3CHW | X-ray | 2.30 | P | 2-140 | [»] | |
4X1L | X-ray | 2.16 | A | 1-140 | [»] | |
4X1M | X-ray | 2.17 | A | 1-140 | [»] | |
4X25 | X-ray | 2.23 | A/B | 1-140 | [»] | |
6NAS | X-ray | 2.90 | P | 1-140 | [»] | |
6NBE | X-ray | 2.00 | P | 1-140 | [»] | |
6NBW | X-ray | 2.50 | P | 1-140 | [»] | |
BMRBi | P07737 | |||||
SMRi | P07737 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111237, 125 interactors |
CORUMi | P07737 |
DIPi | DIP-30N |
IntActi | P07737, 72 interactors |
MINTi | P07737 |
STRINGi | 9606.ENSP00000225655 |
Chemistry databases
DrugBanki | DB07908, 7-HYDROXY-4-METHYL-3-(2-HYDROXY-ETHYL)COUMARIN DB11638, Artenimol |
Protein family/group databases
Allergomei | 907, Hom s Profilin |
PTM databases
GlyGeni | P07737, 1 site |
iPTMneti | P07737 |
MetOSitei | P07737 |
PhosphoSitePlusi | P07737 |
SwissPalmi | P07737 |
Genetic variation databases
BioMutai | PFN1 |
DMDMi | 130979 |
2D gel databases
DOSAC-COBS-2DPAGEi | P07737 |
OGPi | P07737 |
REPRODUCTION-2DPAGEi | IPI00216691 |
UCD-2DPAGEi | P07737 |
Proteomic databases
CPTACi | CPTAC-253 CPTAC-254 |
EPDi | P07737 |
jPOSTi | P07737 |
MassIVEi | P07737 |
PaxDbi | P07737 |
PeptideAtlasi | P07737 |
PRIDEi | P07737 |
ProteomicsDBi | 52024 |
TopDownProteomicsi | P07737 |
Protocols and materials databases
Antibodypediai | 23487, 438 antibodies |
DNASUi | 5216 |
Genome annotation databases
Ensembli | ENST00000225655; ENSP00000225655; ENSG00000108518 |
GeneIDi | 5216 |
KEGGi | hsa:5216 |
UCSCi | uc002gaa.5, human |
Organism-specific databases
CTDi | 5216 |
DisGeNETi | 5216 |
GeneCardsi | PFN1 |
GeneReviewsi | PFN1 |
HGNCi | HGNC:8881, PFN1 |
HPAi | ENSG00000108518, Tissue enhanced (blood) |
MalaCardsi | PFN1 |
MIMi | 176610, gene 614808, phenotype |
neXtProti | NX_P07737 |
OpenTargetsi | ENSG00000108518 |
Orphaneti | 803, Amyotrophic lateral sclerosis |
PharmGKBi | PA33219 |
VEuPathDBi | HostDB:ENSG00000108518.7 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1755, Eukaryota |
GeneTreei | ENSGT00940000153664 |
HOGENOMi | CLU_123405_1_0_1 |
InParanoidi | P07737 |
OMAi | KKCFEMA |
OrthoDBi | 1428600at2759 |
PhylomeDBi | P07737 |
TreeFami | TF331744 |
Enzyme and pathway databases
PathwayCommonsi | P07737 |
Reactomei | R-HSA-114608, Platelet degranulation R-HSA-376176, Signaling by ROBO receptors R-HSA-4086400, PCP/CE pathway R-HSA-5663220, RHO GTPases Activate Formins |
SIGNORi | P07737 |
Miscellaneous databases
BioGRID-ORCSi | 5216, 571 hits in 994 CRISPR screens |
ChiTaRSi | PFN1, human |
EvolutionaryTracei | P07737 |
GeneWikii | Profilin_1 |
GenomeRNAii | 5216 |
Pharosi | P07737, Tbio |
PROi | PR:P07737 |
RNActi | P07737, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000108518, Expressed in granulocyte and 243 other tissues |
ExpressionAtlasi | P07737, baseline and differential |
Genevisiblei | P07737, HS |
Family and domain databases
CDDi | cd00148, PROF, 1 hit |
InterProi | View protein in InterPro IPR005455, PFN IPR029892, PFN1 IPR036140, PFN_sf IPR005454, Profilin1/2/3_vertebrate IPR027310, Profilin_CS |
PANTHERi | PTHR13936:SF14, PTHR13936:SF14, 1 hit |
Pfami | View protein in Pfam PF00235, Profilin, 1 hit |
PRINTSi | PR01639, PROFILINMAML |
SMARTi | View protein in SMART SM00392, PROF, 1 hit |
SUPFAMi | SSF55770, SSF55770, 1 hit |
PROSITEi | View protein in PROSITE PS00414, PROFILIN, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PROF1_HUMAN | |
Accessioni | P07737Primary (citable) accession number: P07737 Secondary accession number(s): Q53Y44 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 1, 1988 |
Last sequence update: | January 23, 2007 | |
Last modified: | April 7, 2021 | |
This is version 226 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families