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
  • neurofibrillary tangles
  • Lewy bodies

Genetics

• gene on chromosome 9

Notes

• name derived from similarities with ubiquitin

More general terms

• ubiquilin
• nuclear protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=29979
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:29979
• OMIM: https://mirror.omim.org/entry/605046
• UniProt: http://www.uniprot.org/uniprot/Q9UMX0.html