NCBP3: Nuclear Cap-Binding Protein Subunit 3
A key component of the cap-binding complex involved in RNA processing and export
Gene Information Card
| Symbol | NCBP3 |
|---|---|
| Full Name | Nuclear cap-binding protein subunit 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 84248 ncbi.nlm.nih.gov/gene/84248 |
| Ensembl ID | ENSG00000173598 |
| UniProt ID | Q53FZ2 |
| OMIM ID | 619902 |
| HGNC ID | 26086 |
| Aliases | C17orf79, FLJ20643, CBC3 |
Description
NCBP3 encodes a subunit of the nuclear cap-binding complex (CBC), which binds to the 5' cap of RNA polymerase II transcripts. This complex is essential for pre-mRNA splicing, polyadenylation, RNA export, and nonsense-mediated decay. NCBP3 interacts with NCBP1 and NCBP2 to form the CBC, and its loss impairs RNA export and cellular proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and hypotonia | Loss-of-function mutations in NCBP3 disrupt RNA processing and export, leading to impaired neuronal development | OMIM #619902; PMID: 33596410 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | High expression |
| HeLa | 7.5 | Moderate expression |
| K562 | 5.1 | Low expression |
| HepG2 | 4.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Likely loss of function; impaired cap-binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations in NCBP3 lead to reduced RNA export and are associated with neurodevelopmental disorders.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA cap binding | • mRNA export from nucleus |
| • nuclear cap-binding complex | • mRNA processing |
| • nucleus | • cytoplasm |
Pathways
• mRNA Splicing - Major Pathway
• Transport of Mature mRNA to Cytoplasm
• Nonsense-Mediated Decay
Protein Summary
NCBP3 is a 619-amino acid protein that forms part of the nuclear cap-binding complex. It contains a MIF4G domain and interacts with NCBP1 and NCBP2. The protein is localized in the nucleus and is involved in the recognition of the 5' cap of RNA polymerase II transcripts, facilitating downstream RNA processing events.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NCBP3 Knockout HEK293 Cell Line | EDJ-KQ14389 | Human | 55421 | Details Get a Quote |
| NCBP3 Knockout A-549 Cell Line | EDJ-KQ44558 | Human | 55421 | Details Get a Quote |
| NCBP3 Knockout HCT 116 Cell Line | EDJ-KQ44559 | Human | 55421 | Details Get a Quote |
| NCBP3 Knockout HeLa Cell Line | EDJ-KQ44560 | Human | 55421 | Details Get a Quote |
