PFN1
entrez
5216
canonical
uniprot
P07737
canonical
ensembl
ENSG00000108518
resolver
ensp
ENSP00000225655
resolver
ensp
ENSP00000566549
resolver
ensp
ENSP00000566550
resolver
ensp
ENSP00000566551
resolver
ensp
ENSP00000566552
resolver
ensp
ENSP00000599571
resolver
enst
ENST00000225655
resolver
enst
ENST00000896490
resolver
enst
ENST00000896491
resolver
enst
ENST00000896492
resolver
enst
ENST00000896493
resolver
enst
ENST00000929512
resolver
genesymbol
PFN1
resolver
hgnc
HGNC:8881
resolver
uniprot
Q53Y44
resolver
uniprot_entry
PROF1_HUMAN
resolver
uniprot_sec
Q53Y44
resolver
amino_acid_sequence
MAGWNAYIDNLMADGTCQDAAIVGYKDSPSVWAAVPGKTFVNITPAEVGVLVGKDRSSFYVNGLTLGGQKCSVIRDSLLQDGEFSMDLRTKSTGGAPTFNVTVTKTDKTLVLLMGKEGVHGGLINKKCYEMASHLRRSQY
uniprot
proteins
disease_involvement
DISEASE: Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]: A 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. {ECO:0000269|PubMed:22801503}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000269|PubMed:18573880}.
uniprot
proteins
mass_dalton
15054
uniprot
proteins
post_translational_modification
PTM: 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. {ECO:0000269|PubMed:18573880}.
uniprot
proteins
protein_family
Profilin family
uniprot
proteins
pubmed
10404225
uniprot
proteins
pubmed
10411937
uniprot
proteins
pubmed
14592989
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
17914456
uniprot
proteins
pubmed
18573880
uniprot
proteins
pubmed
18689676
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20736409
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22801503
uniprot
proteins
pubmed
22905912
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
3342873
uniprot
proteins
pubmed
3356709
uniprot
proteins
pubmed
34331014
uniprot
proteins
pubmed
36173861
uniprot
proteins
pubmed
7758455
uniprot
proteins
pubmed
8268157
uniprot
proteins
pubmed
9360613
uniprot
proteins
sequence_length
140
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
uniprot
proteins