| Gene Symbol |
UBQLN1
|
| Entrez Gene |
29979
|
| Alt Symbol |
DA41, DSK2, PLIC-1, UBQN, XDRP1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
ubiquilin 1
|
| Other Description |
hPLIC-1|protein linking IAP with cytoskeleton 1|ubiquilin-1
|
| Swissprots |
Q9HAZ5 Q8IXS9 Q8N2Q3 Q5T6J5 Q9UMX0 Q9H0T8 Q5T6J9 Q9H3R4
|
| Accessions |
EAW62658 EAW62659 EAW62660 EAW62661 EAW62662 EAW62663 EAW62664 Q9UMX0 AB035275 BAB20436 AB209468 BAD92705 AF176069 AAD49751 AF293384 AAG02473 AK027556 BAG51344 AK027576 BAG51350 AK074535 AK125815 AL136643 CAB66578 BC010066 AAH10066 BC039294 AAH39294 DA317805 XM_005251948 XP_005252005 NM_013438 NP_038466 NM_053067 NP_444295
|
| Function |
Links CD47 to the cytoskeleton. Promotes the surface expression of GABA-A receptors. Promotes the accumulation of uncleaved PSEN1 and PSEN2 by stimulating their biosynthesis. Has no effect on PSEN1 and PSEN2 degradation.
|
| Subcellular Location |
Cytoplasm {ECO:0000269|PubMed:23979357}. Nucleus {ECO:0000269|PubMed:23979357}. Note=Detected in neuronal processes and at synapses (By similarity). Detected in cytosolic puncta that may correspond to autophagosomes. {ECO:0000250}.
|
| Tissue Specificity |
Ubiquitous. Highly expressed throughout the brain; detected in neurons and in neuropathological lesions, such as neurofibrillary tangles and Lewy bodies. Highly expressed in heart, placenta, pancreas, lung, liver, skeletal muscle and kidney. {ECO:0000269|PubMed:11076969, ECO:0000269|PubMed:11853878}.
|
| Top Pathways |
Protein processing in endoplasmic reticulum
|