Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Kallmann_syndrome
anosmia hypogonadotropic hypogonadism |
| gptkbp:discoveredBy |
Francois Hardelin
|
| gptkbp:encodes |
gptkb:anosmin-1
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000101972
3738 |
| gptkbp:expressedIn |
gptkb:olfactory_bulb
gptkb:kidney |
| gptkbp:formerName |
gptkb:KAL1
|
| gptkbp:function |
cell adhesion
neuronal migration |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:491
|
| https://www.w3.org/2000/01/rdf-schema#label |
ANOS1
|
| gptkbp:length |
14 exons
680 amino acids |
| gptkbp:locatedOnChromosome |
X
|
| gptkbp:location |
Xp22.31
|
| gptkbp:mutationAssociatedWith |
gptkb:X-linked_Kallmann_syndrome
|
| gptkbp:OMIM |
300200
|
| gptkbp:orthologInMouse |
Anos1
|
| gptkbp:orthologInZebrafish |
anos1a
anos1b |
| gptkbp:proteinFamily |
fibronectin type III domain
WAP domain anosmin family cysteine-rich region |
| gptkbp:UniProtID |
Q92859
|
| gptkbp:bfsParent |
gptkb:KAL1
|
| gptkbp:bfsLayer |
7
|