PSMC5

Chr 17q23.3

proteasome 26S subunit, ATPase 5

Aliases:: SUG1, p45/SUG, TBP10, p45, S8
MANE:: ENST00000310144.11

OMIM: 601681 ↗NCBI: 5705 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PSMC5 · P62195

v62025-08-01

Predicted Aligned Error matrix for PSMC5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.1/ 100

Confident

406 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)58%
Low(50–70)10%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

plasma cell myeloma
0.60
neurodevelopmental disorder
0.55
mantle cell lymphoma
0.54
neoplasm
0.49
amyloidosis
0.47
HIV infectious disease
0.46
AL amyloidosis
0.37
Intellectual disability
0.37
acute lymphoblastic leukemia
0.36
non-Hodgkin lymphoma
0.35

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

26S proteasome regulatory subunit 8

Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC5 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides