SPTAN1 - spectrin alpha, non-erythrocytic 1 Gene

Homo sapiens

Also known as DEE5; NEAS; EIEE5; SPTA2

Gene ID: 6709 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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