PFN1 (profilin 1)

2003-11-01  

Identity

HGNC
PFN1
LOCATION
17p13.2
LOCUSID
5216
ALIAS
ALS18
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381417702024Actin-binding protein profilin1 is an important determinant of cellular phosphoinositide control.1
385090622024Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.0
381417702024Actin-binding protein profilin1 is an important determinant of cellular phosphoinositide control.1
385090622024Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.0
365999012023Profilin 1 deficiency drives mitotic defects and reduces genome stability.1
371304592023ALS-causing hPFN1 mutants differentially disrupt LLPS of FUS prion-like domain.0
371642742023Profilin1 Regulates Trophoblast Invasion and Macrophage Differentiation.0
374019762023Association of PFN1 Gene Polymorphisms with Bone Mineral Density, Bone Turnover Markers, and Osteoporotic Fractures in Chinese Population.0
378475552023Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases.3
365999012023Profilin 1 deficiency drives mitotic defects and reduces genome stability.1
371304592023ALS-causing hPFN1 mutants differentially disrupt LLPS of FUS prion-like domain.0
371642742023Profilin1 Regulates Trophoblast Invasion and Macrophage Differentiation.0
374019762023Association of PFN1 Gene Polymorphisms with Bone Mineral Density, Bone Turnover Markers, and Osteoporotic Fractures in Chinese Population.0
378475552023Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases.3
343025832022Detection of structural and conformational changes in ALS-causing mutant profilin-1 with hydrogen/deuterium exchange mass spectrometry and bioinformatics techniques.1

Citation

Dessen P

PFN1 (profilin 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41695