UBQL2_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:
UBQLN2
, N4BP4, PLIC2
, HRIHFB2157
Protein names and data:
UBQL2_HUMAN
, Ubiquilin-2
, Chap1; DSK2 homolog; Protein linking IAP with cytoskeleton 2; PLIC-2; hPLIC-2; Ubiquitin-like product Chap1/Dsk2
Lenght: 624 a.a.
Mass: 65696 Da
fasta formatted sequence
Function:
Increases the half-life of proteins destined to be degraded by the proteasome; may modulate proteasome-mediated protein degradation.
Disease:
( OMIM:
300264
300857
)
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857]: 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. Patients with ALS15 may develop frontotemporal dementia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Nucleus. Note=Where it colocalizes with the proteasome. Associated with fibers in mitotic cells.
Genetic variants
155 - 155
S -> N (in ALS15; uncertain pathological significance). VAR_068892
189 - 189
P -> T (in ALS15; uncertain pathological significance). VAR_068893
235 - 235
L -> H (in dbSNP:rs17002693). VAR_052680
17002693
282 - 282
A -> V (probable disease-associated mutation found in a patient with frontotemporal dementia). VAR_068894
283 - 283
A -> T (in ALS15). VAR_068895
425 - 425
Q -> R (in ALS15). VAR_068896
487 - 487
T -> I (in ALS15). VAR_068897
497 - 497
P -> H (in ALS15; leads to defective ubiquitin-mediated proteasomal degradation). VAR_066562
497 - 497
P -> S (in ALS15). VAR_066563
506 - 506
P -> T (in ALS15; leads to defective ubiquitin-mediated proteasomal degradation). VAR_066564
509 - 509
P -> S (in ALS15). VAR_066565
525 - 525
P -> S (in ALS15). VAR_066566
Database cross-references
UniProt:
Q9UHD9
Ensembl:
ENST00000338222
MIM:
300264
MIM:
300857
neXtProt:
NX_Q9UHD9
Antibodypedia:
Q9UHD9
(may not find the protein thus also not any antibody)
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