UBN1 (Ubinuclein 1)
A chromatin-associated protein involved in transcriptional regulation and linked to cancer and developmental disorders.
Gene Information Card
| Symbol | UBN1 |
|---|---|
| Full Name | Ubinuclein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 29855 ncbi.nlm.nih.gov/gene/29855 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q9NPG3 |
| OMIM ID | 609771 |
| HGNC ID | 16987 |
| Aliases | UBIN, NPH, DKFZp686D10126 |
Description
UBN1 encodes ubinuclein 1, a nuclear protein that functions as a component of the HIRA histone chaperone complex. This complex is essential for replication-independent nucleosome assembly, particularly deposition of histone H3.3 at transcriptionally active sites and regulatory regions. UBN1 is involved in chromatin remodeling, transcriptional regulation, and cellular senescence. It is ubiquitously expressed with highest levels in testis and lymphoid tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis (NPHP) | UBN1 mutations disrupt ciliary function and renal tubular integrity, leading to cystic kidney disease. | OMIM #609771; PMID: 28966033 |
| Acute myeloid leukemia (AML) | UBN1 is a recurrent fusion partner with RUNX1 (RUNX1-UBN1) in AML, altering transcriptional programs. | COSMIC; PMID: 17360467 |
| Colorectal cancer | UBN1 overexpression correlates with poor prognosis; may promote proliferation via chromatin remodeling. | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Lymph node | 8.3 | Medium |
| Bone marrow | 7.1 | Medium |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 9.8 | High expression |
| HeLa (cervical) | 6.5 | Moderate expression |
| HepG2 (liver) | 4.1 | Low expression |
| A549 (lung) | 5.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with nephronophthisis |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift | <0.1% | Loss of function; truncation of HIRA-binding domain |
| RUNX1-UBN1 fusion | Gene fusion | Rare in AML | Oncogenic; disrupts RUNX1 transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in UBN1 lead to truncated protein lacking the HIRA-binding domain, impairing H3.3 deposition and causing ciliary defects in nephronophthisis.
Gain of Function (GOF)
Not well characterized; UBN1 overexpression in some cancers may confer proliferative advantage.
Dominant Negative (DN)
RUNX1-UBN1 fusion may act as dominant-negative inhibitor of RUNX1 target genes.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • nucleosome assembly (GO:0006334) |
| • histone chaperone activity (GO:0030527) | • DNA binding (GO:0003677) |
| • histone binding (GO:0042393) |
Pathways
• Histone H3.3 deposition (HIRA complex)
• Chromatin remodeling
• Ciliogenesis
Protein Summary
Ubinuclein 1 (UBN1) is a 1134-amino-acid nuclear protein that contains a conserved HIRA-binding domain and a C-terminal region that interacts with histones. It is a core component of the HIRA complex, which deposits histone variant H3.3 at active genes and regulatory elements independently of DNA replication. UBN1 also localizes to ciliary base and is required for ciliogenesis. Loss-of-function mutations cause nephronophthisis, while gene fusions with RUNX1 are recurrent in acute myeloid leukemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBN1 Knockout HEK293 Cell Line | EDJ-KQ8301 | Human | 29855 | Details Get a Quote |
| UBN1 Knockout A-549 Cell Line | EDJ-KQ35519 | Human | 29855 | Details Get a Quote |
| UBN1 Knockout HCT 116 Cell Line | EDJ-KQ35520 | Human | 29855 | Details Get a Quote |
| UBN1 Knockout HeLa Cell Line | EDJ-KQ35521 | Human | 29855 | Details Get a Quote |
