SPATA31H1: A Testis-Expressed Gene of the SPATA31 Family
Comprehensive genomic and functional overview of SPATA31H1, a spermatogenesis-associated gene with limited functional characterization.
Gene Information Card
| Symbol | SPATA31H1 |
|---|---|
| Full Name | Spermatogenesis Associated 31H1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q31.3 |
| NCBI Gene ID | 100130889 ncbi.nlm.nih.gov/gene/100130889 |
| Ensembl ID | ENSG00000214756 |
| UniProt ID | A0A1B0GTV6 |
| OMIM ID | - |
| HGNC ID | 37200 |
| Aliases | SPATA31-1, SPATA31H1P |
Description
SPATA31H1 (Spermatogenesis Associated 31H1) is a protein-coding gene located on chromosome 9q31.3. It belongs to the SPATA31 gene family, which is predominantly expressed in the testis and is thought to play a role in spermatogenesis. The gene has limited functional characterization, and its exact biological role remains to be fully elucidated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No known disease associations | - | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No data available | - | - |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants | - | - | - |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data:
Protein Summary
The SPATA31H1 protein is predicted to be a member of the SPATA31 family, with no experimentally determined structure or function. It is likely involved in spermatogenesis based on family homology, but no specific molecular function or cellular component has been assigned.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA31H1 Knockout HEK293 Cell Line | EDJ-KQ10017 | Human | 84226 | Details Get a Quote |
| SPATA31H1 Knockout A-549 Cell Line | EDJ-KQ37006 | Human | 84226 | Details Get a Quote |
| SPATA31H1 Knockout HeLa Cell Line | EDJ-KQ57555 | Human | 84226 | Details Get a Quote |
| SPATA31H1 Knockout HCT 116 Cell Line | EDJ-KQ74475 | Human | 84226 | Details Get a Quote |
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