SPATA31A1 Gene: Spermatogenesis Associated 31A1
A testis-enriched gene implicated in spermatogenesis and potential cancer-related processes.
Gene Information Card
| Symbol | SPATA31A1 |
|---|---|
| Full Name | spermatogenesis associated 31A1 |
| Gene Type | protein coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 90459 ncbi.nlm.nih.gov/gene/90459 |
| Ensembl ID | ENSG00000180574 |
| UniProt ID | Q5VXU1 |
| OMIM ID | 615795 |
| HGNC ID | 28702 |
| Aliases | FLJ23577, SPATA31A |
Description
SPATA31A1 is a protein-coding gene located on chromosome 9q34.13. It is part of the SPATA31 gene family, which is predominantly expressed in the testis and is thought to play a role in spermatogenesis. The gene encodes a protein of unknown function but is characterized by a conserved domain of unknown function (DUF4702). SPATA31A1 has been studied in the context of male fertility and has also been identified in some cancer-related genomic analyses, although its precise role in disease remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Potential involvement in spermatogenesis; altered expression may affect sperm production. | Limited; expression data from GTEx and literature suggest testis-specific role. |
| Cancer (various) | Copy number alterations and differential expression observed in some tumors; functional significance unclear. | COSMIC and TCGA data show sporadic alterations; not yet validated as a driver. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.6 | High |
| Fallopian tube | 3.2 | Low |
| Skin | 2.1 | Low |
| Other tissues | 0.0 - 1.5 | Not detected or very low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not detected |
| A549 | 0.0 | Not detected |
| MCF7 | 0.0 | Not detected |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Unknown; predicted benign in silico |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% (gnomAD) | Unknown; predicted tolerated |
| c.890_891insA (p.Leu297fs) | Frameshift | Rare | Predicted loss-of-function; may affect protein function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function, potentially impairing spermatogenesis.
Gain of Function (GOF)
No evidence for gain-of-function mutations in SPATA31A1.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • biological_process: spermatogenesis (GO:0007283) | • cellular_component: nucleus () (GO:0005634) |
| • molecular_function: molecular_function () (no specific function assigned) (GO:0003674) |
Pathways
• No curated pathways are available for SPATA31A1 in Reactome or KEGG.
Protein Summary
The SPATA31A1 protein is 1,219 amino acids long and contains a DUF4702 domain of unknown function. It is predicted to be localized to the nucleus. Its expression is highly enriched in the testis, suggesting a role in male germ cell development. The protein has no known enzymatic activity or binding partners, and its exact molecular function remains to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA31A1 Knockout HEK293 Cell Line | EDJ-KQ15443 | Human | 647060 | Details Get a Quote |
| SPATA31A1 Knockout HeLa Cell Line | EDJ-KQ60619 | Human | 647060 | Details Get a Quote |
| SPATA31A1 Knockout A-549 Cell Line | EDJ-KQ69090 | Human | 647060 | Details Get a Quote |
| SPATA31A1 Knockout HCT 116 Cell Line | EDJ-KQ77443 | Human | 647060 | Details Get a Quote |
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