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ubiquilin-1; protein linking IAP with cytoskeleton 1; PLIC-1; hPLIC-1 (UBQLN1, DA41, PLIC1)
Function:
- links CD47 to the cytoskeleton
- promotes the surface expression of GABA-A receptors
- promotes accumulation of uncleaved PSEN1 & PSEN2 by stimulating their biosynthesis
- has no effect on PSEN1 & PSEN2 degradation
- phosphorylated
- binds CD47, NBL1, GABRA1, GABRA2, GABRA3, GABRA6, GABRB1, GABRB2 & GABRB3 (putative). binds UBE3A, BTRC, P4HB, FRAP1, PSEN1 & PSEN2
- interacts with the proteasome 19S subunit
Structure:
- binds PSEN1 & PSEN2 via its UBA domain
- contains 1 UBA domain
- contains 1 ubiquitin-like domain
Compartment: cytoplasm, nucleus
Alternative splicing: named isoforms=2
Expression:
- ubiquitous
- highly expressed throughout the brain
- detected in neurons
- highly expressed in heart, placenta, pancreas, lung, liver, skeletal muscle & kidney
Pathology:
- detected in neuropathological lesions, including
a) neurofibrillary tangles
b) Lewy bodies
Genetics:
- gene on chromosome 9
Notes:
- name derived from similarities with ubiquitin
General
nuclear protein
ubiquilin
Properties
SIZE: entity length = 589 aa
MW = 63 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
Ubiquitin-like {37-111}
UBA domain {546-586}
Database Correlations
OMIM 605046
UniProt Q9UMX0
PFAM correlations
Entrez Gene 29979
Kegg hsa:29979
References
- Tanzi RE. In: Intensive Course in Geriatric Medicine &
Board Review, Marina Del Ray, CA, Sept 29-Oct 2, 2004
- UniProt :accession :Q9UMX0