NASP Gene: Nuclear Autoantigenic Sperm Protein
Comprehensive gene card for NASP, including genomic context, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | NASP |
|---|---|
| Full Name | Nuclear Autoantigenic Sperm Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 4678 ncbi.nlm.nih.gov/gene/4678 |
| Ensembl ID | ENSG00000132780 |
| UniProt ID | P49321 |
| OMIM ID | 601982 |
| HGNC ID | 7644 |
| Aliases | FLJ13047, NASP1, NASP2, PRO1999 |
Description
NASP (Nuclear Autoantigenic Sperm Protein) encodes a histone H1/H5 chaperone that plays a critical role in histone transport and chromatin assembly. It is involved in cell cycle progression, DNA replication, and spermatogenesis. NASP exists in two isoforms: a somatic form (sNASP) and a testis-specific form (tNASP). The gene is broadly expressed and has been implicated in various cancers and autoimmune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of NASP promotes cell proliferation and tumor growth by facilitating histone deposition and chromatin dynamics. | COSMIC, NCBI PubMed |
| Autoimmune disease | NASP is a known autoantigen in systemic lupus erythematosus (SLE); autoantibodies against NASP are detected in patient sera. | OMIM, NCBI PubMed |
| Male infertility | Altered NASP expression in testis may impair spermatogenesis and chromatin remodeling during sperm maturation. | NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Lymph node | 32.1 | High |
| Bone marrow | 28.7 | High |
| Brain | 12.4 | Medium |
| Liver | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.6 | Cervical cancer cell line |
| K562 | 42.3 | Leukemia cell line |
| A549 | 29.8 | Lung cancer cell line |
| MCF7 | 31.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072G>A (p.Glu358Lys) | Missense | 0.02% | Unknown significance |
| c.1543C>T (p.Arg515Trp) | Missense | 0.01% | Unknown significance |
| c.1865_1866insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1865_1866insA) are predicted to cause premature truncation and loss of histone chaperone activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NASP.
Dominant Negative (DN)
No evidence for dominant-negative effects in NASP.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • DNA binding (GO:0003677) |
| • nucleosome assembly (GO:0031492) | • nucleosome assembly (GO:0006334) |
| • histone binding (GO:0042393) | • spermatogenesis (GO:0007283) |
Pathways
• Histone chaperone pathway
• Chromatin assembly
• Cell cycle
Protein Summary
NASP is a histone H1/H5 chaperone that shuttles histones from the cytoplasm to the nucleus, facilitating chromatin assembly and disassembly. It is essential for cell proliferation and differentiation, particularly in germ cells. The protein contains TPR (tetratricopeptide repeat) domains that mediate histone binding. Somatic and testis-specific isoforms arise from alternative splicing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NASP Knockout HEK293 Cell Line | EDJ-KQ5302 | Human | 4678 | Details Get a Quote |
| NASP Knockout A-549 Cell Line | EDJ-KQ28361 | Human | 4678 | Details Get a Quote |
| NASP Knockout HCT 116 Cell Line | EDJ-KQ28362 | Human | 4678 | Details Get a Quote |
| NASP Knockout HeLa Cell Line | EDJ-KQ28363 | Human | 4678 | Details Get a Quote |
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