ANOS1 Gene Summary [Human]
Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ANOS1 |
| Official Name | anosmin 1 [Source:HGNC Symbol;Acc:HGNC:6211] |
| Ensembl ID | ENSG00000011201 |
| Bio databases IDs | |
| Aliases | anosmin 1, anosmin-1, WAP four-disulfide core domain 19, Adhesion molecule-like, X-linked, Kallmann syndrome interval gene 1 |
| Synonyms | ADMLX, anosmin 1, HH1, HHA, KAL, KAL1, KALIG-1, Kallmann Syndrome 1, KMS, WFDC19 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ANOS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- WAP
- WAP-type (Whey Acidic Protein) 'four-disulfide core'
- FN3
- Anosmin cysteine rich domain
- extracellular matrix structural constituent
- protein binding
- Fibronectin type 3 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Kallmann syndrome type 1
- hereditary disorder
- androgenic alopecia
- Kallmann syndrome
- osteoarthritis
- delayed puberty
- hypogonadotropic hypogonadism
- Martsolf syndrome
- epileptic seizure
- hypogonadotropic hypogonadism 7
role in cell
- guidance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Plasma Membrane
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ANOS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chemotaxis
- neuron differentiation
- axon guidance
- cell adhesion
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular matrix
- extracellular region
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- serine-type endopeptidase inhibitor activity
- protein binding
- heparin binding
- extracellular matrix structural constituent