Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
true
|
| gptkbp:associatedWith |
gptkb:congenital_myasthenic_syndrome
|
| gptkbp:encodes |
gptkb:collagen_alpha-1(XIII)_chain
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000119699
1301 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
gptkb:nervous_system |
| gptkbp:fullName |
gptkb:collagen_type_XIII_alpha_1_chain
|
| gptkbp:function |
cell adhesion
extracellular matrix organization |
| gptkbp:HGNC_ID |
HGNC:2202
|
| https://www.w3.org/2000/01/rdf-schema#label |
COL13A1
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_10
|
| gptkbp:OMIM |
120350
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Col13a1
|
| gptkbp:proteinFamily |
collagen family
|
| gptkbp:RefSeq |
gptkb:NM_001130010
|
| gptkbp:transmembraneDomains |
true
|
| gptkbp:UniProtID |
Q5TAT6
|
| gptkbp:bfsParent |
gptkb:EGR1
|
| gptkbp:bfsLayer |
6
|