gptkbp:instanceOf
|
gptkb:gene
|
gptkbp:alternativeSplicing
|
yes
|
gptkbp:associatedWith
|
gptkb:skeletal_muscle
Ehlers-Danlos syndrome (potential association)
|
gptkbp:biologicalProcess
|
cell adhesion
extracellular matrix organization
extracellular matrix structural constituent
|
gptkbp:discoveredBy
|
Koch et al.
|
gptkbp:encodes
|
gptkb:collagen_alpha-1(XVI)_chain
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000142156
1306
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:skin
gptkb:skeletal_muscle
gptkb:kidney
gptkb:placenta
heart
spleen
intestine
|
gptkbp:firstDescribed
|
1995
|
gptkbp:function
|
structural component of extracellular matrix
|
gptkbp:geneLocationEnd
|
gptkb:1p35.2
|
gptkbp:geneLocationStart
|
gptkb:1p35.2
|
gptkbp:geneType
|
protein-coding
|
gptkbp:HGNC_ID
|
2182
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL16A1
|
gptkbp:length
|
1604 amino acids
|
gptkbp:locatedOnChromosome
|
chromosome 1
|
gptkbp:OMIM
|
603566
|
gptkbp:orthologInMouse
|
gptkb:Col16a1
|
gptkbp:proteinFamily
|
collagen family
|
gptkbp:species
|
gptkb:Homo_sapiens
|
gptkbp:subcellularLocation
|
extracellular region
|
gptkbp:UniProtID
|
gptkb:Q9BXN1
|
gptkbp:bfsParent
|
gptkb:EGR1
|
gptkbp:bfsLayer
|
6
|