URB1: URB1 Ribosome Biogenesis Homolog
A key factor in ribosome biogenesis and cell growth regulation
Gene Information Card
| Symbol | URB1 |
|---|---|
| Full Name | URB1 ribosome biogenesis homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 9875 ncbi.nlm.nih.gov/gene/9875 |
| Ensembl ID | ENSG00000160209 |
| UniProt ID | O60287 |
| OMIM ID | 609977 |
| HGNC ID | 17102 |
| Aliases | NPA3, URB1, C21orf108 |
Description
URB1 (URB1 ribosome biogenesis homolog) encodes a nucleolar protein involved in the early steps of ribosome biogenesis. It is required for the maturation of the 60S ribosomal subunit and plays a role in cell growth and proliferation. The protein localizes to the nucleolus and interacts with other ribosome assembly factors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | URB1 overexpression may promote ribosome biogenesis and cell proliferation, contributing to tumorigenesis. | COSMIC; literature |
| Developmental disorders | Mutations in URB1 have been associated with microcephaly and growth retardation in some case studies. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.8 | Medium |
| Bone marrow | 9.5 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| HEK293 | 11.0 | Embryonic kidney cell line |
| K562 | 9.8 | Leukemia cell line |
| HepG2 | 7.2 | Liver cancer cell line |
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 developmental delay |
| c.567G>A (p.Gly189Arg) | Missense | <0.1% | Unknown significance |
| c.2345_2346insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in URB1 lead to truncated or absent protein, impairing ribosome biogenesis and cell growth.
Gain of Function (GOF)
No gain-of-function mutations reported for URB1.
Dominant Negative (DN)
No dominant-negative mutations reported for URB1.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • ribosome biogenesis (GO:0042254) | • maturation of LSU-rRNA (GO:0000462) |
| • protein binding (GO:0005515) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• rRNA processing in the nucleolus (Reactome: R-HSA-6791226)
Protein Summary
URB1 is a 777-amino acid nucleolar protein with a molecular weight of approximately 88 kDa. It contains a coiled-coil domain and is involved in the early steps of 60S ribosomal subunit assembly. The protein is conserved across eukaryotes and is essential for cell viability.
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