NELFB (Negative Elongation Factor B)
A core component of the NELF complex regulating RNA polymerase II pausing
Gene Information Card
| Symbol | NELFB |
|---|---|
| Full Name | Negative Elongation Factor Complex Member B |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 26097 ncbi.nlm.nih.gov/gene/26097 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | Q8WX92 |
| OMIM ID | 608546 |
| HGNC ID | 29163 |
| Aliases | COBRA1, NELF-B, NELF-B/COBRA1 |
Description
NELFB encodes a core subunit of the negative elongation factor (NELF) complex, which together with DRB sensitivity-inducing factor (DSIF) promotes RNA polymerase II pausing proximal to the transcription start site. NELF-B (also known as COBRA1) is essential for NELF complex assembly and stability. It plays critical roles in transcriptional regulation, cell cycle control, and DNA damage response. NELFB is ubiquitously expressed and its dysregulation is implicated in various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | NELFB overexpression correlates with poor prognosis; may promote proliferation via transcriptional reprogramming | PMID: 21159625 |
| Colorectal cancer | NELFB upregulation associated with tumor progression and metastasis | PMID: 25686833 |
| Neurodevelopmental disorders | NELFB mutations linked to intellectual disability and autism spectrum disorder | PMID: 31036916 |
| Prostate cancer | NELFB loss-of-function mutations identified in metastatic castration-resistant prostate cancer | PMID: 29056342 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain (cerebellum) | 12.8 | Medium |
| Lung | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Embryonic kidney; high expression |
| HeLa | 12.3 | Cervical carcinoma; moderate expression |
| MCF7 | 11.8 | Breast cancer; moderate expression |
| A549 | 10.1 | Lung carcinoma; moderate expression |
| K562 | 9.4 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | 0.02% | Impaired NELF complex assembly |
| c.1000_1001del (p.Glu334fs) | Frameshift | <0.01% | Truncation; loss of function |
| c.1522G>A (p.Gly508Arg) | Missense | 0.01% | Reduced RNA polymerase II binding |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Glu334fs) lead to truncated protein and loss of NELF complex activity, impairing transcriptional pausing.
Gain of Function (GOF)
Not well documented; some missense variants (e.g., p.Gly508Arg) may alter pausing dynamics but evidence is limited.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg109Trp) may disrupt NELF complex assembly and exert dominant-negative effects on wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • transcription elongation from RNA polymerase II promoter (GO:0006368) |
| • negative regulation of transcription elongation from RNA polymerase II promoter (GO:0032784) | • protein binding (GO:0005515) |
| • intracellular ribonucleoprotein complex (GO:0030529) |
Pathways
• RNA polymerase II transcription elongation (Reactome: R-HSA-75955)
• Negative elongation factor (NELF) complex (Reactome: R-HSA-113418)
• Formation of RNA polymerase II elongation complex (Reactome: R-HSA-112382)
Protein Summary
NELFB (Negative Elongation Factor B) is a 580-amino acid protein that serves as a scaffold within the NELF complex. It contains a coiled-coil domain mediating interactions with NELF-A and NELF-E, and a C-terminal region that binds RNA polymerase II. The protein is predominantly nuclear and is involved in promoter-proximal pausing of RNA polymerase II, a key regulatory step in metazoan gene expression. NELFB also participates in DNA repair and chromatin remodeling through interactions with BRCA1 and other factors.
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