SPTA1 - spectrin alpha, erythrocytic 1 Gene

Homo sapiens

Also known as EL2; HPP; HS3; SPH3; SPTA

Gene ID: 6708 | Gene type: protein coding

About SPTA1

Cytogenetic location: 1q23.1 Genomic coordinates (GRCh38): 1:158,610,704-158,686,715 (from NCBI)

This gene has 9 transcripts (splice variants), 97 orthologues, 36 paralogues and is associated with 5 phenotypes. Restricted expression toward bone marrow (RPKM 32.4).

Summary

This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin Cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]

SPTA1 Products(1)

mRNA	Protein	Name
NM_003126.4	NP_003117.2	spectrin alpha chain, erythrocytic 1

SPTA1 Protein Structure

Spectrin

SH3_1

Spectrin

EFhand_Ca_insen

0
400
800
1200
1600
2000
2419 a.a.

Protein Preferred Names

Protein Names

spectrin alpha chain, erythrocytic 1

alpha-I spectrin

Related Diseases

Diseases

Alias

Elliptocytosis 2

EL2	Elliptocytosis-2
Elliptocytosis, Rhesus-Unlinked Type	Elliptocytosis Rhesus-Unlinked Type
Ovalocytosis	Elliptocytosis, Hereditary

Pyropoikilocytosis, Hereditary

Hereditary Pyropoikilocytosis	Pyropoikilocytosis
HPP	Pyropoikilocytosis Hereditary
Hereditary Elliptocytosis

Spherocytosis, Type 3

Hereditary Spherocytosis Type 3	SPH3
Hs3	Spherocytosis, Hereditary, 3
Hereditary Spherocytosis 3	Spherocytosis 3

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

Congenital Hemolytic Anemia

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

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

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

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Glutamate-Cysteine Ligase Deficiency

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

Anemia, Congenital Dyserythropoietic, Type Ia

Congenital Dyserythropoietic Anemia Type I	Cda I
CDAN1A	Congenital Dyserythropoietic Anemia Type 1
Congenital Dyserythropoietic Anemia Type Ia	Congenital Dyserythropoietic Anemia, Type I
Anemia, Congenital Dyserythropoietic, Type I	Cda Type 1
Cda Type I	Cda Ia
Dyserythropoietic Anemia, Congenital Type 1	Anemia, Congenital Dyserythropoietic, Type 1a
Dyserythropoietic Anemia, Congenital, Type Ia	Cda, Type Ia
Congenital Dyserythropoietic Anaemia Type 1	Congenital Dyserythropoietic Anaemia Type I
Anemia, Dyserythropoietic, Congenital Type 1	Type I Congenital Dyserythropoietic Anemia
Anemia, Congenital Dyserythropoietic, 1a	Anemia, Dyserythropoietic, Congenital, Type Ia

Developmental And Epileptic Encephalopathy 5

Epileptic Encephalopathy, Early Infantile, 5	DEE5
Eiee5	Developmental And Epileptic Encephalopathy, 5
Early Infantile Epileptic Encephalopathy 5	Encephalopathy, Epileptic, Early Infantile, Type 5

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

Congenital Nonspherocytic Hemolytic Anemia

Hereditary Non-Spherocytic Hemolytic Anemia	Hereditary Nonspherocytic Hemolytic Anemia
Anemia, Hemolytic, Congenital Nonspherocytic	Congenital Nonspherocytic Hemolytic Anaemia
Hereditary Nonspherocytic Hemolytic Anaemia	Hnsha

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

Pyruvate Kinase Deficiency Of Red Cells

Pyruvate Kinase Deficiency	Pk Deficiency
Pyruvate Kinase Deficiency Of Erythrocyte	Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Pyruvate Kinase Deficiency Of Erythrocytes	Pkd
PKRD	Hereditary Non-Spherocytic Hemolytic Anemia Due To Pyruvate Kinase Deficiency
Hnsha	Pyruvate Kinase-Deficient Hemolytic Anemia
Red Cell Pyruvate Kinase Deficiency	Deficiency Of Pyruvate Kinase
Anemia, Hemolytic, Congenital Nonspherocytic

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

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

Bilirubin Metabolic Disorder

Hyperbilirubinemia	Hereditary Hyperbilirubinemia
Hyperbilirubinemia, Hereditary	Hyperbilirubinaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13729	SPTA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SPTA1	VGNC	VGNC:77868
Mus musculus	SPTA1	MGD	MGI:98385
Rattus norvegicus	SPTA1	RGD	RGD:1305194
Bos taurus	SPTA1	VGNC	VGNC:35250

Name
Email *

	Sorry, but the email address you supplied was invalid.