TCN1 gene

GPTKB entity

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