Statements (24)
| Predicate | Object |
|---|---|
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL5A1 gene
|
| 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
gptkb:collagen |
| gptkbp:bfsLayer |
6
|