SPTA1 - spectrin alpha, erythrocytic 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6708

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9593709	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in spectrin-associated cytoskeleton	IDA IDA: Inferred from direct assay	379653	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

SPTA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SPTA1	P02549	C21orf58	Homo sapiens	Q0VAL7	Validated Y2H	32296183
Intra	SPTA1	P02549	TSHZ2	Homo sapiens	Q9NRE2	Validated Y2H	32296183
Intra	SPTA1	P02549	PKP2	Homo sapiens	Q99959-2	Y2H Array	32296183
Intra	SPTA1	P02549	PKP2	Homo sapiens	Q99959-2	Validated Y2H	32296183
Intra	SPTA1	P02549	ZNF326	Homo sapiens	Q5BKZ1	Validated Y2H	32296183
Intra	SPTA1	P02549	TXN2	Homo sapiens	Q99757	Validated Y2H	32296183
Intra	SPTA1	P02549	SPTBN1	Homo sapiens	Q01082	SPR	12820899
Intra	SPTA1	P02549	SPTBN1	Homo sapiens	Q01082	Pull Down	12820899
Intra	SPTA1	P02549	EXOSC5	Homo sapiens	Q9NQT4	Validated Y2H	32296183
Intra	SPTA1	P02549	GADD45GIP1	Homo sapiens	Q8TAE8	Validated Y2H	32296183
Intra	SPTA1	P02549	ABI1	Homo sapiens	Q8IZP0	Filter Binding	9593709
Intra	SPTA1	P02549	ABI1	Homo sapiens	Q8IZP0	Y2H	9593709
Intra	SPTA1	P02549	SPTB	Homo sapiens	P11277	SPR	12820899
Intra	SPTA1	P02549	SPTB	Homo sapiens	P11277	X-Ray Diffraction	20197550
Intra	SPTA1	P02549	SPTB	Homo sapiens	P11277	Anti Tag CoIP	33961781
Intra	SPTA1	P02549	CCDC185	Homo sapiens	Q8N715	Validated Y2H	32296183
Intra	SPTA1	P02549	DGCR6L	Homo sapiens	Q9BY27	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

SPTA1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81380	alpha 1 Spectrin Antibody (YA1125)	IHC-P	Human
HY-P81380A	alpha 1 Spectrin Antibody (YA1125)(PBS only)	IHC-P	Human

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13729	SPTA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22829	Spta1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SPTA1	NCBI