|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Ehlers-Danlos_syndrome,_arthrochalasia_type
gptkb:Ehlers-Danlos_syndrome,_classical_type
|
|
gptkbp:discoveredIn
|
1986
|
|
gptkbp:encodes
|
gptkb:collagen_alpha-1(V)_chain
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:COL5A1
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
|
|
gptkbp:fullName
|
gptkb:collagen_type_V_alpha_1_chain
|
|
gptkbp:function
|
encodes a component of type V collagen, important for collagen fibril assembly
|
|
gptkbp:HGNC_ID
|
HGNC:2202
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_9
9q34.3
|
|
gptkbp:mutationAssociatedWith
|
can cause connective tissue disorders
|
|
gptkbp:OMIM
|
120215
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Col5a1
|
|
gptkbp:product
|
gptkb:procollagen_type_V_alpha_1_chain
|
|
gptkbp:relatedTo
|
gptkb:collagen_gene_family
|
|
gptkbp:UniProtID
|
P20908
|
|
gptkbp:bfsParent
|
gptkb:Ehlers-Danlos_syndrome,_classical_type
gptkb:collagen_alpha-1(V)_chain
gptkb:collagen_type_V_alpha_1_chain
gptkb:Ehlers-Danlos_syndrome,_type_II
gptkb:collagen_type_V_alpha-1_chain
gptkb:pro-alpha1(V)_collagen_chain
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
COL5A1 gene
|