ANOS1 Gene (Anosmin-1)
Key regulator of GnRH neuron migration and olfactory bulb development
Gene Information Card
| Symbol | ANOS1 |
|---|---|
| Full Name | Anosmin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.31 |
| NCBI Gene ID | 3730 ncbi.nlm.nih.gov/gene/3730 |
| Ensembl ID | ENSG00000102144 |
| UniProt ID | P23352 |
| OMIM ID | 300836 |
| HGNC ID | 485 |
| Aliases | KAL1, KAL, KALIG-1, ADMLX, WFDC19 |
Description
The ANOS1 gene (formerly KAL1) encodes anosmin-1, an extracellular matrix glycoprotein essential for the migration of gonadotropin-releasing hormone (GnRH) neurons from the olfactory placode to the hypothalamus. It also plays a role in olfactory bulb development and axon guidance. Loss-of-function mutations cause X-linked Kallmann syndrome, characterized by hypogonadotropic hypogonadism and anosmia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Kallmann syndrome 1 (X-linked) | Loss-of-function mutations impair GnRH neuron migration, leading to deficient GnRH secretion and olfactory bulb agenesis/hypoplasia. | ClinVar, OMIM |
| Hypogonadotropic hypogonadism (isolated) | Partial loss-of-function variants may cause normosmic hypogonadotropic hypogonadism without anosmia. | ClinVar, OMIM |
| Bilateral cryptorchidism (associated) | Disrupted GnRH signaling leads to undescended testes in males. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 2.1 | Low |
| Brain (frontal cortex) | 1.8 | Low |
| Testis | 0.9 | Not detected |
| Kidney | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 0.8 | Low expression |
| HEK293 (embryonic kidney) | 0.2 | Not detected |
| HepG2 (hepatocellular carcinoma) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.571C>T (p.Arg191*) | Nonsense | ~15% of KAL1 cases | Premature stop; loss of anosmin-1 function |
| c.681_682del (p.Glu228fs) | Frameshift | ~5% | Truncated protein; loss of function |
| c.1012G>A (p.Gly338Arg) | Missense | ~3% | Disrupted fibronectin type III domain; impaired migration |
Mutation functional classification
Loss of Function (LOF)
Majority of ANOS1 mutations (nonsense, frameshift, splice-site, large deletions) result in complete or partial loss of anosmin-1 function, causing Kallmann syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not applicable; X-linked recessive inheritance.
View complete mutation data：
Gene Ontology (GO)
Pathways
• GnRH neuron migration and development
• Extracellular matrix-receptor interaction
• Neural crest cell migration
Protein Summary
Anosmin-1 is a 680-amino-acid extracellular matrix protein containing an N-terminal cysteine-rich region, a whey acidic protein (WAP) domain, four fibronectin type III repeats, and a C-terminal histidine-rich region. It binds heparan sulfate proteoglycans and modulates fibroblast growth factor (FGF) signaling, critical for GnRH neuron migration and olfactory bulb morphogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANOS1 Knockout HEK293 Cell Line | EDJ-KQ5028 | Human | 3730 | Details Get a Quote |
| NANOS1 Knockout HEK293 Cell Line | EDJ-KQ14369 | Human | 340719 | Details Get a Quote |
| ANOS1 Knockout HeLa Cell Line | EDJ-KQ27941 | Human | 3730 | 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 |
| ANOS1 Knockout A-549 Cell Line | EDJ-KQ62169 | Human | 3730 | Details Get a Quote |
| ANOS1 Knockout HCT 116 Cell Line | EDJ-KQ70655 | Human | 3730 | Details Get a Quote |
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