SPATA31C1
Spermatogenesis Associated 31 Family Member C1
Gene Information Card
| Symbol | SPATA31C1 |
|---|---|
| Full Name | Spermatogenesis Associated 31 Family Member C1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q31.3 |
| NCBI Gene ID | 100130894 ncbi.nlm.nih.gov/gene/100130894 |
| Ensembl ID | ENSG00000196476 |
| UniProt ID | A6NKD9 |
| OMIM ID | Not assigned |
| HGNC ID | 37237 |
| Aliases | SPATA31C1, FAM75C1 |
Description
SPATA31C1 is a protein-coding gene belonging to the SPATA31 family, which is predominantly expressed in the testis. The encoded protein is involved in spermatogenesis, though its precise molecular function remains under investigation. The gene is located on chromosome 9q31.3 and is conserved in primates.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-obstructive azoospermia | Potential role in spermatogenesis failure | Limited evidence from expression studies |
| Male infertility | Altered expression may impair sperm production | Hypothetical based on gene family function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Other tissues | <0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 8.2 | Moderate expression |
| Embryonic stem cells (H1) | 0.1 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41*) | Nonsense | <0.01% in gnomAD | Premature truncation, likely loss of function |
| c.456G>A (p.Trp152*) | Nonsense | <0.01% in gnomAD | Premature truncation, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense variants predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • spermatogenesis (GO:0007283) | • cytoplasm (GO:0005737) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
Protein Summary
The SPATA31C1 protein (UniProt A6NKD9) is 1,012 amino acids long and contains a coiled-coil domain. It is predicted to localize to the cytoplasm and is thought to play a role in spermatogenesis, possibly in germ cell development or differentiation. No enzymatic function has been assigned.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA31C1 Knockout HEK293 Cell Line | EDJ-KQ15447 | Human | 441452 | Details Get a Quote |
| SPATA31C1 Knockout A-549 Cell Line | EDJ-KQ46229 | Human | 441452 | Details Get a Quote |
| SPATA31C1 Knockout HCT 116 Cell Line | EDJ-KQ46230 | Human | 441452 | Details Get a Quote |
| SPATA31C1 Knockout HeLa Cell Line | EDJ-KQ46231 | Human | 441452 | Details Get a Quote |
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