NANOS1
Nanos C2HC-Type Zinc Finger 1
Gene Information Card
| Symbol | NANOS1 |
|---|---|
| Full Name | Nanos C2HC-Type Zinc Finger 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.11 |
| NCBI Gene ID | 340061 ncbi.nlm.nih.gov/gene/340061 |
| Ensembl ID | ENSG00000188612 |
| UniProt ID | Q8WY41 |
| OMIM ID | 608226 |
| HGNC ID | 23044 |
| Aliases | EC_rep, NOS1, SPGF12 |
Description
NANOS1 encodes a member of the nanos family of zinc finger proteins, which are evolutionarily conserved RNA-binding proteins essential for germ cell development and maintenance. The protein contains a C2HC-type zinc finger domain that mediates sequence-specific RNA binding and translational repression. NANOS1 is primarily expressed in germ cells and plays a critical role in spermatogenesis and oogenesis. Mutations in NANOS1 are associated with spermatogenic failure and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 12 | Loss-of-function mutations impair germ cell maintenance | OMIM #608226; PMID: 22995907 |
| Male infertility (non-obstructive azoospermia) | Disrupted NANOS1 RNA binding leads to germ cell apoptosis | ClinVar; PMID: 22995907 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Ovary | 4.2 | Low |
| Brain | 0.5 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.3 | Germ cell origin |
| Embryonic stem cell (H1) | 2.1 | Low expression |
| HeLa | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.349C>T (p.Arg117*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing germ cell development.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • Zinc ion binding (GO:0008270) |
| • Regulation of translation (GO:0006417) | • Germ cell development (GO:0007281) |
| • Spermatogenesis (GO:0007283) |
Pathways
• miRNA-mediated gene silencing
• Germ cell development
Protein Summary
NANOS1 is a 267-amino acid RNA-binding protein containing a C2HC-type zinc finger domain. It localizes to the cytoplasm and forms complexes with other germline factors to repress translation of specific mRNAs. The protein is essential for maintaining the germ cell lineage and preventing premature differentiation. Structural studies show that the zinc finger domain recognizes a conserved sequence motif in target mRNAs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NANOS1 Knockout HEK293 Cell Line | EDJ-KQ14369 | Human | 340719 | Details Get a Quote |
| NANOS1 Knockout A-549 Cell Line | EDJ-KQ44508 | Human | 340719 | Details Get a Quote |
| NANOS1 Knockout HCT 116 Cell Line | EDJ-KQ44509 | Human | 340719 | Details Get a Quote |
| NANOS1 Knockout HeLa Cell Line | EDJ-KQ44510 | Human | 340719 | Details Get a Quote |
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