SPTAN1 - spectrin alpha, non-erythrocytic 1 Gene

Also Known as DEE5; NEAS; EIEE5; SPTA2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6709

About SPTAN1

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:128,552,587-128,633,662 (from NCBI)

This gene has 46 transcripts (splice variants), 233 orthologues, 36 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 87.7), testis (RPKM 42.9) and 24 other tissues.

Summary

Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in Other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]

SPTAN1 Products (11)

mRNA	Protein	Name
NM_001130438.3	NP_001123910.1	spectrin alpha chain, non-erythrocytic 1 isoform 1
NM_001195532.2	NP_001182461.1	spectrin alpha chain, non-erythrocytic 1 isoform 3
NM_001363759.2	NP_001350688.1	spectrin alpha chain, non-erythrocytic 1 isoform 4
NM_001363765.2	NP_001350694.1	spectrin alpha chain, non-erythrocytic 1 isoform 5
NM_001375310.1	NP_001362239.1	spectrin alpha chain, non-erythrocytic 1 isoform 6
NM_001375311.2	NP_001362240.1	spectrin alpha chain, non-erythrocytic 1 isoform 1
NM_001375312.2	NP_001362241.2	spectrin alpha chain, non-erythrocytic 1 isoform 8
NM_001375313.1	NP_001362242.1	spectrin alpha chain, non-erythrocytic 1 isoform 7
NM_001375314.2	NP_001362243.1	spectrin alpha chain, non-erythrocytic 1 isoform 5
NM_001375318.1	NP_001362247.1	spectrin alpha chain, non-erythrocytic 1 isoform 9
NM_003127.4	NP_003118.2	spectrin alpha chain, non-erythrocytic 1 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12571280	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

SPTAN1 Protein Structure

Spectrin

SH3_1

Spectrin

EF-hand_7

EFhand_Ca_insen

0
400
800
1200
1600
2000
2472 a.a.

Protein Preferred Names	Protein Names
spectrin alpha chain, non-erythrocytic 1	alpha-II spectrin

SPTAN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SPTAN1	Q13813	EVL	Homo sapiens	Q9UI08	Y2H	16336193
Intra	SPTAN1	Q13813	EVL	Homo sapiens	Q9UI08	Pull Down	16336193
Intra	SPTAN1	Q13813	SPTBN1	Homo sapiens	Q01082	SPR	12820899
Intra	SPTAN1	Q13813	DISC1	Homo sapiens	Q9NRI5	Y2H	17043677
Intra	SPTAN1	Q13813	MLH1	Homo sapiens	P40692	Anti Bait CoIP	20706999
Intra	SPTAN1	Q13813	MLH1	Homo sapiens	P40692	Anti Tag CoIP	20706999
Intra	SPTAN1	Q13813	FANCG	Homo sapiens	O15287	Y2H	19102630

Cross: Cross-species interaction Intra: Intraspecies interaction

SPTAN1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81610	NEAS/alpha-Fodrin Antibody (YA1355)	WB, ICC/IF	Human, Mouse, Rat
HY-P81610A	NEAS/alpha-Fodrin Antibody (YA1355)(PBS only)	WB, ICC/IF	Human, Mouse, Rat
HY-P83602	NEAS/alpha-Fodrin Antibody (YA3347)	WB, IHC-P, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	SRTD11
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Ohtahara Syndrome
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Asphyxiating Thoracic Dystrophy 1 Jeune Syndrome SRTD1 Atd1 Asphyxiating Thoracic Dystrophy Of The Newborn Jatd Jeune Asphyxiating Thoracic Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Atd Asphyxiating Thoracic Dystrophy Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune'S Syndrome Thoracic Pelvic Phalangeal Dystrophy Jeune Thoracic Dystrophy
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Focal Epilepsy	Partial Epilepsy Epilepsies, Partial Localisation-Related Epilepsy
Sjogren Syndrome	Sicca Syndrome Sjogren'S Syndrome Sjögren Syndrome Sjogren-Gougerot Syndrome Keratoconjunctivitis Sicca Sjögren'S Syndrome Xerodermosteosis Dacryosialoadenopathia Atrophicans Gougerot-Houwer-Sjogren Syndrome Gougerot-Sjogren Syndrome Keratoconjunctivitis Sicca-Xerostomia Secreto-Inhibitor-Xerodermostenosis Primary Sjogren Syndrome Primary Sjogren-Gougerot Syndrome Sjogrens Syndrome Primary Sjogrens Syndrome Dry Eye Syndromes
Spastic Quadriplegia	Spastic Quadriplegic Cerebral Palsy Quadriplegic Infantile Cerebral Palsy Tetraplegic Infantile Cerebral Palsy Cerebral Palsy Spastic Quadriplegic Quadriplegic Cerebral Palsy Spastic Quadriplegia Cerebral Palsy Spastic Tetraplegia Cerebral Palsy Cerebral Palsy, Quadriplegic, Infantile Cerebral Palsy With Spastic Tetraplegia Congenital Spastic Quadriplegia Spastic Tetraplegic Cerebral Palsy Congenital Quadriplegia Nos Tetraplegic Cerebral Palsy
Quadriplegia	Tetraplegia Tetraplegias
Spastic Ataxia	Spax Ataxia, Spastic
Encephalopathy	Brain Diseases Encephalopathies Toxic Encephalopathy Toxic Brain Fever Toxic Brain Inflammation Toxic Brain Stem Inflammation Toxic Cerebral Fever Toxic Cerebrospinal Fever Toxic Cerebrospinal Inflammation Encephalopathy Nec Encephalopathy Nos Encephalopathy Disease Encephalopathy Syndrome
Spinocerebellar Ataxia 5	Spinocerebellar Ataxia Type 5 SCA5 Spinocerebellar Ataxia-5 Ataxia, Spinocerebellar, Type 5
Aplasia Of Lacrimal And Salivary Glands	ALSG Congenital Absence Of Lacrimal Puncta And Salivary Glands Xerostomia Absence Of Salivary Glands Parotid Aplasia Or Hypoplasia Congenital Absence Of Lacrimal Puncta Or Salivary Glands Alsg - [Aplasia Of Lacrimal Or Salivary Glands]
Xerophthalmia	Conjunctival Xerosis
Axonal Neuropathy
Migraine With Aura	Classic Migraine Migraine With Typical Aura Migraine Accompagnée Complicated Migraine Classical Migraine Acute Migraine With Aura
Dacryoadenitis	Dacryocystitis
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Infancy Electroclinical Syndrome
Potocki-Shaffer Syndrome	Proximal 11p Deletion Syndrome Chromosome 11p11.2 Deletion Syndrome Pss 11p11.2 Deletion P11pds Defect11 Syndrome Deletion Of Chromosome 11p11.2 POSHS
Gastroenteritis	Cholera Morbus Infectious Colitis, Enteritis And Gastroenteritis Enteritis Due To Astrovirus Rotaviral Gastroenteritis Viral Gastroenteritis Due To Rotavirus
Sialadenitis	Sialoadenitis Adenitis, Salivary Gland Salivary Gland Inflammation Salivary Gland Adenitis Sialitis Inflammation Of Salivary Gland Inflammation Of Salivary Duct Or Gland Salivary Glandular Adenitis Sialoangiitis Sialoangitis Sialodochitis
Keratoconjunctivitis Sicca	Kcs Dry Eye Syndromes Keratitis Sicca Xerophthalmia
Heart Block, Congenital	Congenital Heart Block Heart Block Congenital Congenital Atrioventricular Block
Spastic Cerebral Palsy	Palsy, Cerebral, Spastic Infantile Hemiplegia Nos Postnatal Infantile Hemiplegia Nos Congenital Spastic Hemiplegia Spastic Hemiplegic Cerebral Palsy Congenital Hemiplegia Nos Hemiplegic Cerebral Palsy Hemiplegic Infantile Cerebral Palsy
Lacrimal Apparatus Disease	Lacrimal Apparatus Diseases
Developmental And Epileptic Encephalopathy 2	Epileptic Encephalopathy, Early Infantile, 2 DEE2 Eiee2 Issx2 Developmental And Epileptic Encephalopathy, 2 Infantile Spasm Syndrome, X-Linked 2 Early Infantile Epileptic Encephalopathy 2 X-Linked Infantile Spasm Syndrome 2 Atypical Rett Syndrome Cdkl5-Related Atypical Rett Syndrome Hanefeld Variant Infantile Spasm Syndrome X-Linked 2 Rett Syndrome Early-Onset Seizure Variant Rett Syndrome Variant With Infantile Spasms Encephalopathy, Epileptic, Early Infantile, Type 2
Autoimmune Disease Of Exocrine System
Dry Eye Syndrome	Dry Eye Syndromes Dry Eye Disease Tear Film Insufficiency Xerophthalmia
Neonatal Period Electroclinical Syndrome
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Intracranial Berry Aneurysm	Familial Aneurysmal Subarachnoid Hemorrhage Familial Berry Aneurysm Familial Intracranial Saccular Aneurysm Saccular Cerebral Aneurysm Aneurysm, Intracranial Berry Aneurysmal Subarachnoid Hemorrhage Aneurysm, Intracranial Berry, 1
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13730	SPTAN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SPTAN1	MGD	MGI:98386
Bos taurus	SPTAN1	VGNC	VGNC:35251
Canis familiaris	SPTAN1	VGNC	VGNC:46773
Felis catus	SPTAN1	VGNC	VGNC:65658
Rattus norvegicus	SPTAN1	RGD	RGD:621714
Macaca mulatta	SPTAN1	VGNC	VGNC:77869
Others	SPTAN1	NCBI