collagen type VI alpha 1 chain
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Bethlem_myopathy
gptkb:Ullrich_congenital_muscular_dystrophy |
| gptkbp:component |
type VI collagen
|
| gptkbp:encodedBy |
COL6A1 gene
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000142173
GC21P047366 |
| gptkbp:expressedIn |
gptkb:skin
gptkb:skeletal_muscle tendon |
| gptkbp:foundIn |
extracellular matrix
|
| gptkbp:function |
structural support
|
| https://www.w3.org/2000/01/rdf-schema#label |
collagen type VI alpha 1 chain
|
| gptkbp:locatedOnChromosome |
chromosome 21q22.3
|
| gptkbp:molecularWeight |
~140 kDa
|
| gptkbp:OMIM |
120220
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:postTranslationalModification |
glycosylation
hydroxylation |
| gptkbp:RefSeq |
NP_001836.2
|
| gptkbp:subunit |
collagen VI microfibril
|
| gptkbp:UniProtID |
P12109
|
| gptkbp:bfsParent |
gptkb:COL6A1
|
| gptkbp:bfsLayer |
7
|