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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SPANXA1
sperm protein associated with the nucleus, X-linked, family member A1
Chromosome X · Xq27.2
NCBI Gene: 30014Ensembl: ENSG00000198021.8HGNC: HGNC:11218UniProt: Q9NS26
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleusspermatogenesiscytoplasmmelanomaneoplasmbreast cancerlung adenocarcinoma
✦AI Summary

SPANXA1 is a cancer/testis (CT) antigen that plays important roles in spermatogenesis and cancer biology. During normal male reproduction, SPANXA1 localizes to the nuclear envelope of spermatids in non-acrosomal domains and redistributes to the redundant nuclear envelope during spermiogenesis, serving as a biomarker for these cellular structures 1. The protein is normally expressed only in testis among mature tissues, making it highly immunogenic 2. In cancer contexts, SPANXA1 functions as an oncogene, with hypomethylation-driven overexpression promoting metastasis in head and neck squamous cell carcinoma through epithelial-mesenchymal transition (EMT) pathways 3. The gene is upregulated by histone H3.3K27M mutations in pediatric gliomas 4 and shows preferential expression in cancer stem-like cells, supporting the novel cancer/testis/stem (CTS) gene classification 5. SPANXA1 expression correlates with poor patient survival and increased metastatic potential, while knockdown inhibits cancer cell migration and invasion 3. Its restricted normal expression pattern and immunogenicity make it a promising target for cancer immunotherapy, with detectable antibody responses observed in patients with hematologic malignancies 2 and potential utility as a diagnostic biomarker for prostate cancer 6.

Sources cited
1
SPANXA1 localizes to nuclear envelope of spermatids and serves as biomarker during spermiogenesis
PMID: 17012309
2
SPANXA1 is immunogenic cancer/testis antigen with restricted testis expression and induces antibody responses
PMID: 12393489
3
Hypomethylated SPANXA1 promotes metastasis in head and neck cancer through EMT and correlates with poor survival
PMID: 33175201
4
SPANXA1 is upregulated by H3.3K27M mutations in pediatric gliomas
PMID: 29453317
5
SPANXA1 shows preferential expression in cancer stem-like cells, supporting CTS gene classification
PMID: 23574628
6
SPANXA1 has potential utility as diagnostic biomarker for prostate cancer
PMID: 26885621
Disease Associationsⓘ20
melanomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
coronary artery diseaseOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
prostate cancerOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
Testicular Germ Cell TumorOpen Targets
0.01Suggestive
prostate carcinomaOpen Targets
0.01Suggestive
cutaneous melanomaOpen Targets
0.01Suggestive
infertilityOpen Targets
0.01Suggestive
childhood testicular germ cell tumorOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
adenocarcinomaOpen Targets
0.01Suggestive
skin neoplasmOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.01Suggestive
seminomaOpen Targets
0.00Suggestive
glioblastomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPMIP7Shared pathway100%CBY3Shared pathway100%ARRDC5Shared pathway100%C3orf62Shared pathway100%TXNDC8Shared pathway100%TDRPShared pathway100%
Tissue Expression6 tissues
Lung
0%
Heart
0%
Brain
0%
Ovary
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
SPANXA1SPMIP7CBY3ARRDC5C3orf62TXNDC8TDRP
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NS26
View on AlphaFold ↗
RankingsWhere SPANXA1 stands among ~20K protein-coding genes
  • #13,083of 20,598
    Most Researched25
Genes detectedSPANXA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Histone H3.3K27M Mobilizes Multiple Cancer/Testis (CT) Antigens in Pediatric Glioma.
PMID: 29453317
Mol Cancer Res · 2018
1.00
2
Hypomethylated SPANXA1/A2 promotes the metastasis of head and neck squamous cell carcinoma.
PMID: 33175201
Med Oncol · 2020
0.90
3
Biological features of tissue and bone sarcomas investigated using an in vitro model of clonal selection.
PMID: 33290900
Pathol Res Pract · 2021
0.80
4
Novel potential serological prostate cancer biomarkers using CT100+ cancer antigen microarray platform in a multi-cultural South African cohort.
PMID: 26885621
Oncotarget · 2016
0.70
5
A shared promoter region suggests a common ancestor for the human VCX/Y, SPANX, and CSAG gene families and the murine CYPT family.
PMID: 17342728
Mol Reprod Dev · 2008
0.60