PROF1_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
PFN1
Protein names and data:
PROF1_HUMAN
, Profilin-1
, Epididymis tissue protein Li 184a; Profilin I
Lenght: 140 a.a.
Mass: 15054 Da
fasta formatted sequence
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.
Disease:
( OMIM:
176610
614808
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm, cytoskeleton.
Tissue specificity:
Expressed in epididymis (at protein level).
Genetic variants
71 - 71
C -> G (in ALS18; the mutant protein is detected in the insoluble fraction of cells). VAR_068925
114 - 114
M -> T (in ALS18; the mutant protein is detected in the insoluble fraction of cells). VAR_068926
117 - 117
E -> G (in ALS18; unknown pathological significance; like the wild-type the mutant protein is detected in the soluble fraction of cells; dbSNP:rs140547520). VAR_068927
140547520
118 - 118
G -> V (in ALS18; the mutant protein is detected in the insoluble fraction of cells). VAR_068928
Database cross-references
UniProt:
P07737
Ensembl:
ENST00000225655
MIM:
176610
MIM:
614808
neXtProt:
NX_P07737
Antibodypedia:
P07737
(may not find the protein thus also not any antibody)
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