SP140: SP140 Nuclear Body Protein
A lymphocyte-restricted nuclear body component implicated in hematological malignancies and autoimmune disorders
Gene Information Card
| Symbol | SP140 |
|---|---|
| Full Name | SP140 Nuclear Body Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 11262 ncbi.nlm.nih.gov/gene/11262 |
| Ensembl ID | ENSG00000116044 |
| UniProt ID | Q13342 |
| OMIM ID | 608602 |
| HGNC ID | 17133 |
| Aliases | LYSP100-B, LYSP100-A, SP140L, SP140-like |
Description
SP140 encodes a lymphocyte-restricted nuclear body protein that localizes to PML nuclear bodies and functions as a transcriptional regulator. It is involved in chromatin remodeling, immune response modulation, and has been implicated in the pathogenesis of chronic lymphocytic leukemia (CLL), multiple sclerosis, and other autoimmune conditions. The gene is part of the SP100/SP140 family of nuclear body components.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic lymphocytic leukemia (CLL) | SP140 mutations (e.g., frameshift, nonsense) lead to loss of function, contributing to B-cell transformation and disease progression | COSMIC, ClinVar |
| Multiple sclerosis | Genetic variants in SP140 are associated with increased risk; altered expression in immune cells may affect autoimmune regulation | OMIM, NCBI |
| Autoimmune lymphoproliferative syndrome | Rare SP140 variants disrupt nuclear body function, impairing lymphocyte homeostasis | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 11.8 | Medium |
| Bone marrow | 9.2 | Medium |
| Whole blood | 6.7 | Low |
| Lung | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MEC1 (CLL-derived) | 15.3 | High expression; relevant to CLL biology |
| Jurkat (T-cell) | 10.1 | Moderate expression |
| Raji (B-cell) | 14.7 | High expression |
| HEK293 | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1081C>T (p.Gln361*) | Nonsense | <1% in CLL | Loss of function; truncated protein |
| c.1456_1457del (p.Leu486fs) | Frameshift | <1% in CLL | Loss of function; disrupted nuclear body localization |
| c.203G>A (p.Arg68His) | Missense | Rare | Unknown functional effect; reported in autoimmune cohorts |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in SP140 lead to truncated or absent protein, impairing nuclear body integrity and transcriptional regulation, particularly in B-cells.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SP140.
Dominant Negative (DN)
No dominant-negative mechanisms have been described for SP140.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • PML body (GO:0016605) |
| • transcription cofactor activity (GO:0003712) | • regulation of transcription, DNA-templated (GO:0006355) |
| • innate immune response (GO:0045087) |
Pathways
• PML nuclear body signaling
• Transcriptional regulation by SP140
Protein Summary
SP140 is a 100 kDa nuclear protein predominantly expressed in lymphoid tissues. It contains a SAND domain, a PHD-type zinc finger, and a bromodomain, which mediate chromatin binding and protein-protein interactions. SP140 localizes to PML nuclear bodies and is thought to regulate gene expression by recruiting chromatin-modifying complexes. Its loss of function is associated with impaired B-cell differentiation and increased susceptibility to CLL and autoimmune diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SP140 Knockout HEK293 Cell Line | EDJ-KQ7361 | Human | 11262 | Details Get a Quote |
| SP140L Knockout HEK293 Cell Line | EDJ-KQ10541 | Human | 93349 | Details Get a Quote |
| SP140 Knockout HCT 116 Cell Line | EDJ-KQ32476 | Human | 11262 | Details Get a Quote |
| SP140L Knockout A-549 Cell Line | EDJ-KQ39301 | Human | 93349 | Details Get a Quote |
| SP140L Knockout HCT 116 Cell Line | EDJ-KQ39302 | Human | 93349 | Details Get a Quote |
| SP140L Knockout HeLa Cell Line | EDJ-KQ39303 | Human | 93349 | Details Get a Quote |
| SP140 Knockout HeLa Cell Line | EDJ-KQ55618 | Human | 11262 | Details Get a Quote |
| SP140 Knockout A-549 Cell Line | EDJ-KQ64117 | Human | 11262 | Details Get a Quote |
