|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:ALB
DKFZp779N1935
PRO0883
PRO0903
PRO1341
Serum albumin gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
liver function
hypoalbuminemia
hyperalbuminemia
plasma protein homeostasis
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:conservedIn
|
mammals
vertebrates
|
|
gptkbp:discoveredIn
|
1956
|
|
gptkbp:encodes
|
albumin
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000163631
213
|
|
gptkbp:expressedIn
|
liver
|
|
gptkbp:function
|
regulation of blood osmotic pressure
transport of hormones, fatty acids, and other compounds
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:399
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ALB gene
|
|
gptkbp:length
|
609 amino acids
16,961 bp (genomic)
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_4
4q13.3
|
|
gptkbp:mutationAssociatedWith
|
analbuminemia
congenital analbuminemia
|
|
gptkbp:numberOfExons
|
15
|
|
gptkbp:OMIM
|
103600
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Alb
|
|
gptkbp:pathway
|
hemostasis
lipid transport
metabolism of proteins
drug binding
|
|
gptkbp:product
|
gptkb:serum_albumin
single polypeptide chain
|
|
gptkbp:proteinFamily
|
gptkb:albumin_family
albumin domain
|
|
gptkbp:proteinMass
|
~66.5 kDa
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:transcriptCount
|
multiple
|
|
gptkbp:UniProtID
|
gptkb:P02768
|
|
gptkbp:bfsParent
|
gptkb:Human_Serum_Albumin
|
|
gptkbp:bfsLayer
|
7
|