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SLC4A1
Description
solute carrier family 4 member 1 (Diego blood group)
Image
GO Annotations
Cellular Component
Plasma Membrane
Integral Component Of Plasma Membrane
Cytoplasmic Side Of Plasma Membrane
Integral Component Of Membrane
Basolateral Plasma Membrane
Z Disc
Cortical Cytoskeleton
Extracellular Exosome
Blood Microparticle
Molecular Function
Inorganic Anion Exchanger Activity
Protein Binding
Anion Transmembrane Transporter Activity
Bicarbonate Transmembrane Transporter Activity
Chloride Transmembrane Transporter Activity
Anion:anion Antiporter Activity
Transmembrane Transporter Activity
Hemoglobin Binding
Ankyrin Binding
Protein Homodimerization Activity
Protein-membrane Adaptor Activity
Biological Process
Anion Transport
Chloride Transport
Cellular Ion Homeostasis
Blood Coagulation
Bicarbonate Transport
Plasma Membrane Phospholipid Scrambling
Negative Regulation Of Urine Volume
PH Elevation
Erythrocyte Development
Ion Homeostasis
Negative Regulation Of Oxidoreductase Activity
Regulation Of Intracellular PH
Transmembrane Transport
Protein Localization To Plasma Membrane
Chloride Transmembrane Transport
Negative Regulation Of Glycolytic Process Through Fructose-6-phosphate
Pathways
Erythrocytes take up carbon dioxide and release oxygen
Erythrocytes take up oxygen and release carbon dioxide
Bicarbonate transporters
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
Drugs
Diseases
Hereditary elliptocytosis (HE)
Hereditary spherocytosis (SPH)
Hereditary stomatocytosis (HSt); Dehydrated hereditary stomatocytosis (DHS); Overhydrated hereditary stomatocytosis (OHS); Familial pseudohyperkalemia (FP)
Distal renal tubular acidosis (RTA type 1)
GWAS
Bipolar disorder (
31043756
)
Hemoglobin (
32888494
)
Hemoglobin concentration (
27863252
)
Hemoglobin levels (
32327693
)
High light scatter reticulocyte count (
32888494
)
High light scatter reticulocyte percentage of red cells (
32888494
)
Immature fraction of reticulocytes (
32888494
27863252
)
Lymphocyte counts (
32888494
)
Lymphocyte percentage of white cells (
32888494
)
Mean corpuscular hemoglobin (
32888494
27863252
)
Mean corpuscular hemoglobin concentration (
29403010
32888494
27863252
)
Mean reticulocyte volume (
32888494
)
Mean spheric corpuscular volume (
32888494
)
Monocyte count (
32888494
)
Neutrophil percentage of white cells (
32888494
)
Obesity-related traits (
23251661
)
Red cell distribution width (
32888494
27863252
28957414
)
Reticulocyte count (
32888494
27863252
)
Reticulocyte fraction of red cells (
32888494
27863252
)
Urate levels (
31578528
)
Novel Interacting Genes
1 novel interacting genes:
ZBTB14
Interacting Genes
17 interacting genes:
ACTC1
ADAM33
ANK1
BLOC1S6
BMP10
CA2
CA4
CANX
CDKN2A
CFHR5
EPB41
EPB42
LYN
RHAG
SLC4A1AP
SYK
TMEM60
Entrez ID
6521
HPRD ID
00175
Ensembl ID
ENSG00000004939
Uniprot IDs
P02730
PDB IDs
1BH7
1BNX
1BTQ
1BTR
1BTS
1BTT
1BZK
1HYN
2BTA
2BTB
3BTB
4KY9
4YZF
Enriched GO Terms of Interacting Partners
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Tagcloud
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