|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeTo
|
gptkb:HBH
gptkb:HBA-T1
gptkb:alpha-1_globin
|
|
gptkbp:associatedWith
|
gptkb:Hb_Bart_syndrome
gptkb:hemoglobin_H_disease
gptkb:HBA2_gene
gptkb:HBB_gene
gptkb:alpha-thalassemia
|
|
gptkbp:biologicalProcess
|
oxygen transport
oxygen binding
erythrocyte development
heme binding
|
|
gptkbp:discoveredBy
|
Max Perutz (protein structure)
|
|
gptkbp:encodes
|
gptkb:hemoglobin_subunit_alpha
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000206172
3039
|
|
gptkbp:expressedIn
|
spleen
bone marrow
erythroid cells
fetal liver
|
|
gptkbp:fullName
|
gptkb:Hemoglobin_subunit_alpha_1
|
|
gptkbp:hasPseudogene
|
gptkb:HBAP1
gptkb:HBAP2
gptkb:HBAP3
|
|
gptkbp:hasTranscriptVariant
|
gptkb:NM_000558
|
|
gptkbp:HGNC_ID
|
4826
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HBA1 gene
|
|
gptkbp:length
|
142 amino acids
841 bp (coding sequence)
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_16
16p13.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:anemia
gptkb:hypoxia
jaundice
|
|
gptkbp:numberOfExons
|
3
|
|
gptkbp:OMIM
|
141800
|
|
gptkbp:orthologInChimpanzee
|
gptkb:HBA1
|
|
gptkbp:orthologInMouse
|
gptkb:Hba-a1
|
|
gptkbp:product
|
gptkb:alpha-globin
alpha helix
|
|
gptkbp:proteinComplex
|
gptkb:hemoglobin_Bart
gptkb:hemoglobin_F
gptkb:hemoglobin_H
gptkb:hemoglobin_A
|
|
gptkbp:proteinFamily
|
gptkb:globin_gene_family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:UniProtID
|
P69905
|
|
gptkbp:bfsParent
|
gptkb:hemoglobin
|
|
gptkbp:bfsLayer
|
5
|