PFN1 (profilin 1)

2003-11-01  

Identity

HGNC
LOCATION
17p13.2
LOCUSID
ALIAS
ALS18
FUSION GENES

Other Information

Locus ID:

NCBI: 5216
MIM: 176610
HGNC: 8881
Ensembl: ENSG00000108518

Variants:

dbSNP: 5216
ClinVar: 5216
TCGA: ENSG00000108518
COSMIC: PFN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108518ENST00000225655P07737
ENSG00000108518ENST00000572383I3L3D5
ENSG00000108518ENST00000574872K7EJ44

Expression (GTEx)

0
500
1000
1500
2000

Pathways

PathwaySourceExternal ID
Regulation of actin cytoskeletonKEGGko04810
Regulation of actin cytoskeletonKEGGhsa04810
ShigellosisKEGGhsa05131
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate ForminsREACTOMER-HSA-5663220
Signaling by WntREACTOMER-HSA-195721
Beta-catenin independent WNT signalingREACTOMER-HSA-3858494
PCP/CE pathwayREACTOMER-HSA-4086400
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Signaling by Robo receptorREACTOMER-HSA-376176

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
228015032012Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.184
179144562007Structural basis for the recruitment of profilin-actin complexes during filament elongation by Ena/VASP.91
185738802008Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation.60
169687422006Silencing profilin-1 inhibits endothelial cell proliferation, migration and cord morphogenesis.53
249206142014Profilin 1 associates with stress granules and ALS-linked mutations alter stress granule dynamics.53
179405062007Profilin-1 is a negative regulator of mammary carcinoma aggressiveness.49
211158202010Profilin1 regulates PI(3,4)P2 and lamellipodin accumulation at the leading edge thus influencing motility of MDA-MB-231 cells.46
191152332009Loss of profilin-1 expression enhances breast cancer cell motility by Ena/VASP proteins.43
247808882014Dissection of genetic factors associated with amyotrophic lateral sclerosis.43
170516352006Profilin 1 obtained by proteomic analysis in all-trans retinoic acid-treated hepatocarcinoma cell lines is involved in inhibition of cell proliferation and migration.34

Citation

Dessen P

PFN1 (profilin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41695/pfn1-(profilin-1)