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gptkbp:instanceOf
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gptkb:gene
|
|
gptkbp:alternativeName
|
Diego blood group
anion exchange protein 1
solute carrier family 4 member 1
|
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gptkbp:associatedWith
|
gptkb:hereditary_elliptocytosis
gptkb:hereditary_spherocytosis
renal tubular acidosis
Southeast Asian ovalocytosis
|
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gptkbp:biologicalProcess
|
anion exchanger activity
chloride/bicarbonate exchange
|
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gptkbp:clinicalTrialPhase
|
blood group typing
|
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gptkbp:discoveredBy
|
J. S. Shohet et al.
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gptkbp:encodes
|
Band 3 anion transport protein
|
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gptkbp:Entrez_Gene_ID
|
6521
ENSG00000004939
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gptkbp:expressedIn
|
erythrocytes
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gptkbp:foundIn
|
human genome
|
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gptkbp:function
|
anion exchange across erythrocyte membrane
|
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gptkbp:geneType
|
protein-coding
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gptkbp:hasTranscriptVariant
|
NM_000342.3
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gptkbp:HGNC_ID
|
11020
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SLC4A1
|
|
gptkbp:length
|
911 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
|
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gptkbp:mutationAssociatedWith
|
red blood cell membrane disorders
|
|
gptkbp:OMIM
|
109270
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
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gptkbp:orthologIn
|
gptkb:Bos_taurus
gptkb:Mus_musculus
gptkb:Rattus_norvegicus
|
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gptkbp:product
|
gptkb:Band_3_protein
|
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gptkbp:proteinFamily
|
SLC4 family
|
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gptkbp:RefSeq
|
NM_000342
|
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gptkbp:relatedBloodGroupSystem
|
gptkb:Diego
gptkb:Wright
Scianna
|
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gptkbp:subcellularLocation
|
gptkb:plasma_membrane
|
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gptkbp:UniProtID
|
P02730
|
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gptkbp:bfsParent
|
gptkb:solute_carrier_family
|
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gptkbp:bfsLayer
|
6
|