UBXN11: UBX Domain Protein 11

A regulator of endoplasmic reticulum-associated degradation (ERAD) and cell cycle progression

Gene Information Card

Symbol UBXN11
Full Name UBX Domain Protein 11
Gene Type protein-coding
Chromosomal Location 1p36.11
NCBI Gene ID 91544 ncbi.nlm.nih.gov/gene/91544
Ensembl ID ENSG00000162614
UniProt ID Q5T0T0
OMIM ID 616450
HGNC ID 29262
Aliases SOC, SOC1, UBX domain-containing protein 11, SOCS box-containing protein

Description

UBXN11 (UBX Domain Protein 11) encodes a protein containing a UBX domain, which is involved in ubiquitin-mediated proteolysis and endoplasmic reticulum-associated degradation (ERAD). The protein also contains a SOCS box, suggesting a role in cytokine signaling and protein degradation. UBXN11 is implicated in cell cycle regulation and may function as a tumor suppressor. It is located on chromosome 1p36.11, a region frequently deleted in various cancers.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (general) Loss of heterozygosity at 1p36.11 may lead to reduced UBXN11 expression, impairing ERAD and promoting genomic instability. COSMIC; PMID: 23431171
Neuroblastoma Deletion of 1p36 region including UBXN11 is associated with poor prognosis. PMID: 15696205
Hepatocellular carcinoma Downregulation of UBXN11 correlates with tumor progression and metastasis. PMID: 25944712

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 8.2 Medium
Brain 5.1 Low
Liver 4.3 Low
Kidney 3.9 Low
Heart 2.8 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 6.5 Embryonic kidney cells; moderate expression
HeLa 4.2 Cervical cancer cells; low expression
HepG2 3.1 Hepatocellular carcinoma; low expression
SH-SY5Y 2.0 Neuroblastoma; very low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.101C>T (p.Thr34Met) Missense <0.01% Unknown; rare variant in population databases
c.457G>A (p.Gly153Ser) Missense <0.01% Predicted benign by in silico tools
c.832_833del (p.Leu278fs) Frameshift <0.01% Loss of function; likely pathogenic
Mutation functional classification

Loss of Function (LOF)

Frameshift mutations (e.g., p.Leu278fs) lead to truncated protein and loss of UBX domain, impairing ERAD function.

Gain of Function (GOF)

No documented gain-of-function mutations.

Dominant Negative (DN)

Not reported.

Gene Ontology (GO)

• ubiquitin-dependent protein catabolic process • endoplasmic reticulum-associated ubiquitin-dependent protein catabolic process
• protein ubiquitination • cell cycle
• protein binding • UBX domain binding

Pathways

• Endoplasmic reticulum-associated degradation (ERAD)
• Ubiquitin-proteasome system
• Cytokine signaling (SOCS box-mediated)

Protein Summary

UBXN11 is a 441-amino acid protein containing an N-terminal UBX domain and a C-terminal SOCS box. The UBX domain mediates interaction with p97/VCP, a key ATPase in ERAD, while the SOCS box recruits E3 ubiquitin ligase complexes. Through these interactions, UBXN11 facilitates the extraction and degradation of misfolded proteins from the ER. It also localizes to the centrosome and regulates mitotic progression. Loss of UBXN11 leads to ER stress and chromosomal instability.

Related Products

Product name Cat.No. Species Gene ID
UBXN11 Knockout HEK293 Cell Line EDJ-KQ16017 Human 91544 Details Get a Quote
UBXN11 Knockout A-549 Cell Line EDJ-KQ47110 Human 91544 Details Get a Quote
UBXN11 Knockout HCT 116 Cell Line EDJ-KQ47111 Human 91544 Details Get a Quote
UBXN11 Knockout HeLa Cell Line EDJ-KQ47112 Human 91544 Details Get a Quote
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