Statements (32)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
gptkb:haptocorrin
gptkb:transcobalamin_I vitamin B12 binding protein |
gptkbp:associatedWith |
vitamin B12 transport
AMN gene CUBN gene TCN2 gene |
gptkbp:discoveredBy |
cDNA cloning
|
gptkbp:encodes |
transcobalamin-1 protein
|
gptkbp:Entrez_Gene_ID |
6947
ENSG00000163257 |
gptkbp:expressedIn |
liver
salivary glands granulocytes |
gptkbp:firstDescribed |
1980s
|
gptkbp:function |
binds vitamin B12 in plasma
|
gptkbp:HGNC_ID |
11641
|
https://www.w3.org/2000/01/rdf-schema#label |
TCN1 gene
|
gptkbp:length |
7 exons
439 amino acids |
gptkbp:locatedOnChromosome |
chromosome 11
11q12.1 |
gptkbp:mutationAssociatedWith |
megaloblastic anemia
|
gptkbp:OMIM |
275350
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Tcn1
|
gptkbp:product |
gptkb:haptocorrin
|
gptkbp:proteinFamily |
cobalamin-binding proteins
|
gptkbp:UniProtID |
P20061
|
gptkbp:bfsParent |
gptkb:beta-1_metal-binding_globulin
|
gptkbp:bfsLayer |
7
|