Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:MYH12
gptkb:myosin_VA dilute |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Griscelli_syndrome_type_1
|
| gptkbp:encodes |
gptkb:myosin-Va
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000166866
4644 |
| gptkbp:expressedIn |
gptkb:melanocytes
gptkb:skin brain |
| gptkbp:function |
organelle transport
actin-based motor protein melanosome transport |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
7532
|
| https://www.w3.org/2000/01/rdf-schema#label |
MYO5A
|
| gptkbp:interactsWith |
gptkb:RAB27A
gptkb:melanophilin |
| gptkbp:length |
1855
|
| gptkbp:locatedOnChromosome |
15q21.2
|
| gptkbp:molecularWeight |
220 kDa
|
| gptkbp:mutationAssociatedWith |
hypopigmentation
neurological defects |
| gptkbp:OMIM |
160777
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Myo5a
|
| gptkbp:proteinFamily |
gptkb:myosin_V_family
|
| gptkbp:subcellularLocation |
gptkb:cytoplasm
dendritic spines |
| gptkbp:UniProtID |
gptkb:Q9Y4I1
|
| gptkbp:bfsParent |
gptkb:Lavender_Foal_Syndrome
|
| gptkbp:bfsLayer |
7
|