SLC4A1 - solute carrier family 4 member 1 (Diego blood group) Gene

Homo sapiens

Also known as DI; FR; SW; WD; WR; AE1; CHC; SAO; WD1; BND3; EPB3; SPH4; CD233; EMPB3; RTA1A

Gene ID: 6521 | Gene type: protein coding

About SLC4A1

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,248,390-44,268,135 (from NCBI)

This gene has 4 transcripts (splice variants), 279 orthologues, 9 paralogues and is associated with 20 phenotypes. Restricted expression toward bone marrow (RPKM 157.0).

Summary

The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds Carbonic Anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]

SLC4A1 Products(1)

mRNA	Protein	Name
NM_000342.4	NP_000333.1	band 3 anion transport protein

SLC4A1 Protein Structure

Band_3_cyto

HCO3_cotransp

0
200
400
600
800
911 a.a.

Protein Preferred Names

Protein Names

band 3 anion transport protein

Diego blood group

Related Diseases

Diseases

Alias

Renal Tubular Acidosis, Distal, 1

Autosomal Dominant Distal Renal Tubular Acidosis	DRTA1
Rta, Distal Type, Autosomal Dominant	Renal Tubular Acidosis I
Rta, Classic Type	Rta, Gradient Type
Distal Renal Tubular Acidosis 1	Autosomal Dominant Slc4a1-Associated Distal Renal Tubular Acidosis
Renal Tubular Acidosis 1	Ad Drta
Autosomal Dominant Rta Distal Type	Rta Classic Type
Rta Gradient Type	Renal Tubular Acidosis, Distal, Autosomal Dominant
Acidosis, Tubular, Renal, Distal, Autosomal Dominant	Distal Renal Tubular Acidosis

Cryohydrocytosis

CHC	Stomatocytosis, Cold-Sensitive
Hereditary Cryohydrocytosis With Normal Stomatin	Pseudohyperkalemia Cardiff

Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia

DRTA4	Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology
Distal Renal Tubular Acidosis 4 With Hemolytic Anemia	Distal Renal Tubular Acidosis With Anemia
Drta With Anemia	Autosomal Recessive Distal Rta With Hemolytic Anemia
DRTA-NRC

Ovalocytosis, Southeast Asian

Southeast Asian Ovalocytosis	SAO
Elliptocytosis 4	Ovalocytosis, Malaysian-Melanesian-Filipino Type
El4	Elliptocytosis, Stomatocytic Hereditary
He, Stomatocytic	Ovalocytosis, Sa Type
Hereditary Ovalocytosis	Melanesian Elliptocytosis
Melanesian Ovalocytosis	Stomatocytic Elliptocytosis
Elliptocytosis, Hereditary

Spherocytosis, Type 4

Hereditary Spherocytosis Type 4	SPH4
Hs4	Spherocytosis, Hereditary, 4
Hereditary Spherocytosis 4	Spherocytosis 4

Malaria

Malaria, Susceptibility To	Malaria, Resistance To
Malaria, Cerebral	Cerebral Malaria
Malaria, Severe, Susceptibility To	Malaria, Severe, Resistance To
Malaria, Cerebral, Susceptibility To	Induced Malaria
Malaria, Vivax, Protection Against	Malaria, Severe
Malaria, Cerebral, Reduced Risk Of	Malaria, Protection Against
Resistance To Malaria Due To G6pd Deficiency	Malaria Due To G6pd Deficiency
Malarial Encephalitis	CM
Malaria Cerebral	Susceptibility To Malaria
Acute Pernicious Fever	Aestivo-Autumnal Fever
Aestivo Autumnal Malaria	Chagres Fever
Continued Malaria Fever	Estivo-Autumnal Fever
Estivo-Autumnal Malaria	Estivo-Autumnal Malarial Fever
Falciparum Fever	Malignant Tertian Fever
Malignant Tertian Malaria	Pernicious Intermittent Fever
Pernicious Malaria	Quotidian Malaria
Subtertian Fever	Subtertian Malaria Fever
Subtertian Malignant Tertian Malaria	Tropical Malaria
Algid Malaria	Bilious Haemoglobinuric Fever
Black Water Fever	Blackwater Fever
Malarial Blackwater Fever	Severe Malarial Falciparum
West African Fever	Malarial Haematinuria
Haemoglobinuric Fever	Haemoglobinuric Malaria
Severe Plasmodium Falciparum Malaria	Malarial Haemoglobinuria
Malarial Haematuria	Falciparum Malaria [Malignant Tertian]
Malaria Tropica	Malarial Shock
Chagres Virus Disease	Malignant Malaria
Mtm - [Malignant Tertian Malaria]	Tm -[Malignant Tertian Malaria]
Panama Fever	St - [Subtertian Malaria]
Malarial Quotidian	Benign Tertian Malaria
Tertian Ague	Vivax Fever
Plasmodium Vivax Malaria Nos	Btm - [Benign Tertian Malaria]
Bt - [Benign Tertian Malaria]	Vivax Malaria
Benign Tertian Vivax Malaria	Tertian Malaria
Quartan Malaria	Quartan Ague
Quartan Fever	Plasmodium Malariae Malaria Nos
Quartan Malarial	Malaria By Plasmodium Malariae
Malariae Malaria	Ovale Tertian Malaria
Plasmodium Ovale Fever	Malaria Fever By Plasmodium Ovale
Ovale Malaria	Malaria By Plasmodium Ovale
Malarial Ovale	Marsh Fever
Remittent Congestive Fever	Coastal Fever
Remittent Gastric Fever	Miasmatic Fever
Congestive Remittent Fever	Intermittent Fever
Jungle Fever	Paludism
Cameroon Fever	Ague
Corsican Fever	Intermittent Bilious Fever
Disease Due To Plasmodiidae	Malarial Fever
Plasmodiosis	Remittent Fever
Roman Fever	Malaria Fever Nos
Malaria Nos	Paludal Fever
Clinically Diagnosed Malaria	Clinically Diagnosed Malaria Without Parasitological Confirmation
Congestive Fever	Malarial Cachexia
Marsh Cachexia	Paludal Cachexia
Recurrent Malaria	Remittent Malaria

Blood Group, Diego System

DI	Diego Blood Group System
Blood Group--Diego System

Blood Group--Swann System

Blood Group--Wright Antigen

WR	Wright Blood Group Antigen

Renal Tubular Acidosis

Acidosis Renal Tubular	Acidosis, Renal Tubular
Lightwood-Albright Syndrome	Lightwood Syndrome
Idiopathic Infantile Hypercalcemia - Mild Form	Kidney Tubular Acidosis
Renal Tubule Acidosis	Kidney Acidosis
Renal Acidosis	Renal Hyperchloremic Acidosis
Rta - [Renal Tubular Acidosis]

Distal Renal Tubular Acidosis

Classic Rta	Familial Distal Primary Acidosis
Renal Tubular Acidosis Type 1	Drta
Renal Tubular Acidosis, Distal

Distal Renal Tubular Acidosis With Hemolytic Anemia

Renal Tubular Acidosis, Distal, With Hemolytic Anemia

Acidosis, Tubular, Renal, Distal, With Hemolytic Anemia

Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak

Pseudohyperkalemia Cardiff	Familial Pseudohyperkalemia
PSHK2	Pseudohyperkalemia Lille
Pseudohyperkalemia Falkirk	Pseudohyperkalemia Chiswick
Pseudohyperkalemia East London	Cryohydrocytosis, Mild
Cryohydrocytosis	Stomatocytosis, Cold-Sensitive

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia	Spherocytic Anemia
Congenital Spherocytosis	Spherocytosis, Type 1
Minkowski Chauffard Syndrome	Hs
Minkowski-Chauffard Disease	Minkowski-Chauffard Syndrome
Spherocytosis Hereditary	Spherocytosis, Hereditary
Anemia, Hereditary Spherocytic Hemolytic

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis	Hereditary Xerocytosis
Xerocytosis, Hereditary	Pshk1
Pseudohyperkalemia Edinburgh	Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema
DHS1	Dhs
Hereditary Desiccytosis	Dehydrated Hereditary Stomatocytosis 1
Desiccytosis, Hereditary	Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak
Pseudohyperkalemia Familial 1, Due To Red Cell Leak	Desiccytosis Hereditary
Xerocytosis Hereditary	Familial Pseudohyperkalemia 1 Due To Red Cell Leak
Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema	Xerocytosis

Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss

Autosomal Recessive Distal Renal Tubular Acidosis	Autosomal Recessive Distal Rta
Renal Tubular Acidosis, Distal, Autosomal Recessive	DRTA3
Rtadr	Ar Drta
Distal Renal Tubular Acidosis 3, With Or Without Sensorineural Hearing Loss	Renal Tubular Acidosis, Distal, Autosomal Recessive, With Late-Onset Sensorineural Hearing Loss, Included
Rta, Distal, Autosomal Recessive	Renal Tubular Acidosis, Autosomal Recessive With Preserved Hearing
Distal Renal Tubular Acidosis With Late-Onset Sensorineural Hearing Loss	Distal Renal Tubular Acidosis With Preserved Hearing
Acidosis, Tubular, Renal, Distal, Autosomal Recessive

Nephrocalcinosis

Hypercalcemic Nephropathy

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Hereditary Elliptocytosis

Congenital Elliptocytosis	Ovalocytosis
Elliptocytosis, Hereditary	He
Elliptocytosis Hereditary	Congenital Ovalocytosis
Elliptocytosis	Hereditary Elliptocytosis With Infantile Poikilocytosis
Hereditary Ovalocytosis	Oval Erythrocytosis
He - [Hereditary Elliptocytosis]	Elliptocytosis Anaemia

Blood Group Incompatibility

Metabolic Acidosis

Kernicterus

Bilirubin Encephalopathy	Hyperbilirubinemic Encephalopathy
Kernicterus Spectrum Disorder

Tetanus Neonatorum

Neonatal Tetanus	NNT
Trismus Neonatorum	Newborn Trismus

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea	Chandler Syndrome
CHED	Chandler'S Syndrome
Endothelial Corneal Dystrophy	Ched2
Maumenee Corneal Dystrophy	Corneal Dystrophy, Congenital Hereditary Endothelial
Dystrophy Of Corneal Endothelium	Corneal Endothelial Dystrophy 2
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly	Ched2, Formerly
Corneal Endothelial Dystrophy, Autosomal Recessive	Endothelial Dystrophy
Posterior Membrane Corneal Dystrophy	Corneal Endothelial Dystrophy Type 2
Congenital Hereditary Endothelial Dystrophy Of The Cornea	Congenital Hereditary Endothelial Dystrophy Type Ii
Autosomal Recessive Ched	Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
Chedii	Congenital Hereditary Endothelial Dystrophy Type 2
Infantile Hereditary Endothelial Dystrophy	Congenital Hereditary Endothelial Corneal Dystrophy
Corneal Endothelial Dystrophy 2, Autosomal Recessive	Iridocorneal Endothelial Syndrome
Dystrophy, Corneal, Endothelial	Corneal Endothelial Dystrophy 1, Autosomal Dominant

Priapism

Mentulagra	Priapism, Familial Idiopathic
Familial Idiopathic Priapism	Pathologic Erection
Painful Erection

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

Congenital Dyserythropoietic Anemia

Congenital Dyshaematopoietic Anaemia	Dyserythropoietic Anemia, Congenital
Cda	Anemia, Dyserythropoietic, Congenital
Anemia Dyserythropoietic Congenital	Cda - [Congenital Dyserythropoietic Anaemia]
Dyserythropoietic Dyshaematopoietic Congenital Anaemia	Dyshaematopoietic Anaemia
Dyserythropoietic Anaemia

Corneal Dystrophy And Perceptive Deafness

Corneal Dystrophy-Perceptive Deafness Syndrome	CDPD
Harboyan Syndrome	Cdpd1
Corneal Dystrophy And Sensorineural Deafness	Corneal Endothelial Dystrophy And Perceptive Deafness
Corneal Dystrophy With Progressive Deafness	Congenital Corneal Dystrophy, Progressive Sensorineural Deafness
Corneal Dystrophy With Progressive Hearing Loss	Corneal Dystrophy-Perceptive Hearing Loss Syndrome
Dystrophy, Corneal, Endothelial, And Perceptive Deafness

Thalassemia

Sickle-Cell Thalassemia With Crisis	Sickle-Cell Thalassemia Without Crisis
Thalassemia Hb-S Disease With Crisis	Thalassemia Hb-S Disease Without Crisis
Thalassemias	Hereditary Leptocytosis
Haemoglobin Thalassaemia Disorder	Thalassaemia Syndrome
Thalassaemia Nos	Thalassemia Variants

Pendred Syndrome

Goiter-Deafness Syndrome	Deafness With Goiter
PDS	Thyroid Dyshormonogenesis 2b
Tdh2b	Autosomal Recessive Sensorineural Hearing Impairment And Goiter
Pendred'S Syndrome	Thyroid Hormonogenesis, Genetic Defect In, 2b
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b	Congenital Hypothyroidism Due To Dyshormonogenesis 2b
Genetic Defect In Thyroid Hormonogenesis 2b	Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
Goiter-Hearing Loss Syndrome	Goitre-Deafness Syndrome
Goitre Deafness

Glutamate-Cysteine Ligase Deficiency

Gamma-Glutamylcysteine Synthetase Deficiency	Hemolytic Anemia Due To Gamma-Glutamylcysteine Synthetase Deficiency
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To

Plasmodium Falciparum Malaria

Falciparum Malaria	Malaria, Falciparum
Malaria Fever, Subtertian	Malignant Tertian Fever
Malaria Falciparum	Cerebral Malaria Nos
Cerebral Malaria

Nephrolithiasis

Kidney Stones	Stone - Kidney/Ureter
Kidney Calculi

Rift Valley Fever

Rfv - [Rift Valley Fever]

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Osteopetrosis, Autosomal Recessive 3

Osteopetrosis With Renal Tubular Acidosis	Marble Brain Disease
OPTB3	Guibaud-Vainsel Syndrome
Carbonic Anhydrase Ii Deficiency	Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis
Autosomal Recessive Osteopetrosis 3	Carbonic Anhydrase 2 Deficiency
Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis	Osteopetrosis Autosomal Recessive 3
Autosomal Recessive Osteopetrosis Type 3	Guibaud Vainsel Syndrome
Mixed Rta	Mixed Renal Tubular Acidosis
Renal Tubular Acidosis Type 3	Carbonic Anhydrase Ii Deficiency Syndrome
Carbonic Anhydrase Ii Variant	Osteopetrosis, Autosomal Recessive, Type 3
Carbonic Anhydrase 2

Overhydrated Hereditary Stomatocytosis

Ohs	Potassium Sodium Disorder Of Erythrocyte
OHST	Stomatocytosis I
Potassium-Sodium Disorder Of Erythrocyte	Stomatocytosisiohst
Hereditary, Overhydrated, Cation-Leak Stomatocytosis	Overhydrated Cation Leak Stomatocytosis
Stomatocytosis, Overhydrated Hereditary

Beta-Thalassemia

Beta Thalassemia	Cooley'S Anemia
Mediterranean Anemia	Beta Thalassemia Intermedia
Erythroblastic Anemia	Thalassemia, Hispanic Gamma-Delta-Beta
Thalassemia Major	Thalassemia Minor
Beta-Plus-Thalassemia	Thalassemia, Beta
Beta Thalassemia Major	Beta Thalassemia Minor
Thalassemias, Beta-	Microcytemia, Beta Type
Thalassemia, Beta Type	B-THAL
Mediterranean Anaemia	Beta Thalassaemia Syndrome
Mediterranean Disease	Beta Thalassaemia Disease

Splenomegaly

Osteopetrosis, Autosomal Recessive 6

OPTB6	Autosomal Recessive Osteopetrosis 6
Autosomal Recessive Osteopetrosis Intermediate Form	Osteopetrosis, Autosomal Recessive, Intermediate Form
Osteopetrosis Autosomal Recessive 6	Autosomal Recessive Osteopetrosis Type 6
Osteopetrosis Autosomal Recessive Intermediate Form	Intermediate Osteopetrosis
Autosomal Recessive Intermediate Osteopetrosis	Osteopetrosis, Autosomal Recessive, Type 6

Congenital Hemolytic Anemia

Anemia Hemolytic Congenital	Anemia, Hemolytic, Congenital
Congenital Hemolytic Anaemia	Hereditary Hemolytic Anaemia
Hereditary Hemolytic Anemia

Hypogonadotropic Hypogonadism 2 With Or Without Anosmia

Kallmann Syndrome 2	Kal2
HH2	Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia

Amelanotic Melanoma

Melanoma, Amelanotic	Melanoma Amelanotic
Amelanotic Skin Melanoma

Glucosephosphate Dehydrogenase Deficiency

G6pd Deficiency	Glucose-6-Phosphate Dehydrogenase Deficiency
Deficiency Of Glucose-6-Phosphate Dehydrogenase	Glucose 6 Phosphate Dehydrogenase Deficiency
Deficiency Of G-6pd	G6pdd

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Gilbert Syndrome

Gilbert Disease	Gilbert'S Disease
Gilbert'S Syndrome	Cholemia, Familial
Familial Nonhemolytic Jaundice	Meulengracht Syndrome
Gilbert Syndrome, Susceptibility To	Hyperbilirubinemia, Gilbert Type
Hblrg	Hyperbilirubinemia, Arias Type
Hyperbilirubinemia I	Constitutional Hyperbilirubinemia
Gilbert-Meulengracht Syndrome	Hereditary Nonhemolytic Jaundice
Hyperbilirubinemia Arias Type	Hyperbilirubinemia Type 1
Constitutional Liver Dysfunction	Gilbert-Lereboullet Syndrome
Hyperbilirubinemia 1	Unconjugated Benign Bilirubinemia
GILBS	Gilberts Syndrome
Familial Nonhaemolytic Jaundice	Constitutional Hyperbilirubinaemia
Hereditary Nonhaemolytic Bilirubinaemia	Familial Nonhaemolytic Bilirubinaemia
Idiopathic Hyperbilirubinaemia	Icterus Intermittens Juvenilis
Chronic Intermittent Juvenile Jaundice	Low-Grade Chronic Hyperbilirubinaemia Syndrome
Benign Unconjugated Bilirubinaemia Syndrome	Hereditary Nonhaemolytic Jaundice
Idiopathic Unconjugated Hyperbilirubinaemia	Gilbert--Lereboullet Syndrome
Constitutional Hepatic Dysfunction	Meulengracht Icterus
Cholaemia Familiaris Simplex	Familial Cholaemia
Congenital Familial Cholaemia	Physiologic Cholaemia
Hyperbilirubinaemia Type 1	Gilbert Cholaemia

Alpha-Thalassemia

Alpha Thalassemia	Alpha Thalassaemia
Alpha Plus Thalassemia	Thalassemia, Alpha-
Thalassemias, Alpha-	A-Thalassemia
Α-Thalassemia	A-THAL
Thalassemia	Alpha Thalassaemia Syndrome

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13265	SLC4A1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SLC4A1	VGNC	VGNC:49095
Bos taurus	SLC4A1	VGNC	VGNC:55870
Macaca mulatta	SLC4A1	VGNC	VGNC:99259
Rattus norvegicus	SLC4A1	RGD	RGD:3710
Felis catus	SLC4A1	VGNC	VGNC:99454
Mus musculus	SLC4A1	MGD	MGI:109393