SPANXA1: Sperm Protein Associated with the Nucleus on the X Chromosome A1
A testis-specific gene encoding a sperm nuclear protein implicated in spermatogenesis and male fertility.
Gene Information Card
| Symbol | SPANXA1 |
|---|---|
| Full Name | Sperm Protein Associated with the Nucleus on the X Chromosome A1 |
| Gene Type | Protein-coding |
| Chromosomal Location | Xq27.1 |
| NCBI Gene ID | 30014 ncbi.nlm.nih.gov/gene/30014 |
| Ensembl ID | ENSG00000182393 |
| UniProt ID | Q9NS26 |
| OMIM ID | 300305 |
| HGNC ID | 11213 |
| Aliases | SPAN-Xa, SPANX-A, SPANXA, CT11.1 |
Description
SPANXA1 is a member of the SPANX gene family located on the X chromosome. It encodes a sperm-specific nuclear protein that is expressed exclusively in testis, particularly in spermatids. The protein localizes to the nucleus and is associated with the nuclear envelope during spermatogenesis. SPANXA1 is also classified as a cancer/testis antigen, with aberrant expression observed in various cancers, making it a potential target for immunotherapy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered SPANXA1 expression may disrupt sperm nuclear condensation and maturation, impairing fertility. | NCBI Gene, OMIM |
| Cancer (melanoma, lung, bladder) | Ectopic expression as a cancer/testis antigen; immune response may be elicited. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.5 | High |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 15.2 | Cancer/testis antigen expression |
| A549 (lung carcinoma) | 2.1 | Low-level ectopic 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% | Potential loss of start codon; functional impact unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Rare variant; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nucleus | • sperm nucleus |
| • spermatogenesis | • DNA binding |
Pathways
• Spermatogenesis
• Cancer/testis antigen expression
Protein Summary
SPANXA1 is a 97-amino acid protein with a nuclear localization signal. It contains a conserved SPANX domain and is thought to play a role in chromatin remodeling during spermatid maturation. The protein is normally testis-restricted but is re-expressed in several tumor types, where it can elicit humoral and cellular immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPANXA1 Knockout HEK293 Cell Line | EDJ-KQ51253 | Human | 30014 | Details Get a Quote |
| SPANXA1 Knockout HeLa Cell Line | EDJ-KQ56145 | Human | 30014 | Details Get a Quote |
| SPANXA1 Knockout A-549 Cell Line | EDJ-KQ64634 | Human | 30014 | Details Get a Quote |
| SPANXA1 Knockout HCT 116 Cell Line | EDJ-KQ73084 | Human | 30014 | Details Get a Quote |
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