NCBP1: Nuclear Cap-Binding Protein Subunit 1
A key component of the cap-binding complex involved in RNA processing, export, and translation initiation.
Gene Information Card
| Symbol | NCBP1 |
|---|---|
| Full Name | Nuclear Cap-Binding Protein Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 4686 ncbi.nlm.nih.gov/gene/4686 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | Q09161 |
| OMIM ID | 600469 |
| HGNC ID | 7659 |
| Aliases | CBP80, NCBP, FLJ10385 |
Description
NCBP1 encodes the 80 kDa subunit of the nuclear cap-binding complex (CBC), which binds to the 5' cap of pre-mRNAs and plays essential roles in pre-mRNA splicing, polyadenylation, nuclear export, and translation initiation. The CBC is a heterodimer of NCBP1 (CBP80) and NCBP2 (CBP20). NCBP1 is also involved in nonsense-mediated mRNA decay (NMD) and microRNA processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of NCBP1 expression or mutations may alter RNA processing and gene expression, contributing to oncogenesis. | COSMIC; literature |
| Neurodevelopmental disorders | Rare variants in NCBP1 have been associated with intellectual disability and developmental delay. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.1 | High |
| Brain | 18.3 | Medium |
| Lung | 12.7 | Medium |
| Liver | 10.5 | Medium |
| Heart | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | Embryonic kidney cells |
| HeLa | 19.8 | Cervical carcinoma cells |
| K562 | 15.2 | Leukemia cells |
| HepG2 | 14.6 | Hepatocellular carcinoma cells |
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 neurodevelopmental phenotypes (ClinVar) |
| c.789_790insA (p.Glu264Argfs*17) | Frameshift | <0.1% | Loss of function; reported in COSMIC for colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in NCBP1 lead to truncated or absent protein, impairing cap-binding complex assembly and RNA processing.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NCBP1.
Dominant Negative (DN)
No evidence for dominant-negative effects in NCBP1.
View complete mutation data：
Gene Ontology (GO)
| • RNA cap binding (GO:0000339) | • mRNA cap binding complex (GO:0005845) |
| • mRNA processing (GO:0006397) | • mRNA export from nucleus (GO:0006406) |
| • regulation of translation (GO:0006417) | • nuclear-transcribed mRNA catabolic process (GO:0000184) |
Pathways
• mRNA Splicing - Major Pathway
• mRNA Export from Nucleus
• Nonsense-Mediated Decay (NMD)
• Cap-Dependent Translation Initiation
Protein Summary
NCBP1 (CBP80) is the large subunit of the nuclear cap-binding complex. It directly binds the 5' cap of RNA polymerase II transcripts and recruits factors for splicing, polyadenylation, export, and NMD. The protein contains multiple HEAT repeats and interacts with NCBP2, importins, and the exon junction complex. UniProt ID: Q09161.
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