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Aliases for SPTAN1 Gene

Aliases for SPTAN1 Gene

  • Spectrin, Alpha, Non-Erythrocytic 1 2 3
  • Spectrin, Non-Erythroid Alpha Subunit 3 4
  • Fodrin Alpha Chain 3 4
  • Alpha-II Spectrin 3 4
  • Alpha-Fodrin 2 3
  • SPTA2 3 4
  • NEAS 3 4
  • Spectrin, Non-Erythroid Alpha Chain 3
  • EIEE5 3

External Ids for SPTAN1 Gene

Previous GeneCards Identifiers for SPTAN1 Gene

  • GC09P122429
  • GC09P122961
  • GC09P124768
  • GC09P126690
  • GC09P126661
  • GC09P128394
  • GC09P130355
  • GC09P131314
  • GC09P100926

Summaries for SPTAN1 Gene

Entrez Gene Summary for SPTAN1 Gene

  • 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]

GeneCards Summary for SPTAN1 Gene

SPTAN1 (Spectrin, Alpha, Non-Erythrocytic 1) is a Protein Coding gene. Diseases associated with SPTAN1 include epileptic encephalopathy, early infantile, 5 and west syndrome. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is ACTN2.

UniProtKB/Swiss-Prot for SPTAN1 Gene

  • Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane

Gene Wiki entry for SPTAN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPTAN1 Gene

Genomics for SPTAN1 Gene

Regulatory Elements for SPTAN1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SPTAN1 Gene

Chromosome:
9
Start:
128,552,558 bp from pter
End:
128,633,665 bp from pter
Size:
81,108 bases
Orientation:
Plus strand

Genomic View for SPTAN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPTAN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPTAN1 Gene

Proteins for SPTAN1 Gene

  • Protein details for SPTAN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13813-SPTN1_HUMAN
    Recommended name:
    Spectrin alpha chain, non-erythrocytic 1
    Protein Accession:
    Q13813
    Secondary Accessions:
    • Q13186
    • Q15324
    • Q16606
    • Q59EF1
    • Q5VXV5
    • Q5VXV6
    • Q7Z6M5
    • Q9P0V0

    Protein attributes for SPTAN1 Gene

    Size:
    2472 amino acids
    Molecular mass:
    284539 Da
    Quaternary structure:
    • Like erythrocyte spectrin, the spectrin-like proteins are capable of forming dimers which can further associate to tetramers. Interacts (via C-terminal spectrin repeats) with TRPC4. Interacts with CALM and EMD. Interacts with isoform 1 of ACP1. Identified in a complex with ACTN4, CASK, IQGAP1, MAGI2, NPHS1 and SPTBN1. Interacts with SHANK3 (via ANK repeats).
    SequenceCaution:
    • Sequence=BAD93097.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPTAN1 Gene

    Alternative splice isoforms for SPTAN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPTAN1 Gene

Proteomics data for SPTAN1 Gene at MOPED

Post-translational modifications for SPTAN1 Gene

  • Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro.
  • Ubiquitination at Lys 1519 and Lys 2426
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SPTAN1 (SPTAN1)

No data available for DME Specific Peptides for SPTAN1 Gene

Domains & Families for SPTAN1 Gene

Gene Families for SPTAN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13813

UniProtKB/Swiss-Prot:

SPTN1_HUMAN :
  • Contains 3 EF-hand domains.
  • Belongs to the spectrin family.
  • Contains 23 spectrin repeats.
Domain:
  • Contains 3 EF-hand domains.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the spectrin family.
Similarity:
  • Contains 23 spectrin repeats.
genes like me logo Genes that share domains with SPTAN1: view

Function for SPTAN1 Gene

Molecular function for SPTAN1 Gene

GENATLAS Biochemistry:
spectrin,alpha,non-erythrocytic 1,intermediate filament associated protein (IFAP,type III),alpha-fodrin,120kDa,candidate autoantigen in primary Sjogren syndrome
UniProtKB/Swiss-Prot Function:
Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane

Gene Ontology (GO) - Molecular Function for SPTAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005200 structural constituent of cytoskeleton TAS 2307671
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12571280
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with SPTAN1: view
genes like me logo Genes that share phenotypes with SPTAN1: view

Animal Models for SPTAN1 Gene

MGI Knock Outs for SPTAN1:

miRNA for SPTAN1 Gene

miRTarBase miRNAs that target SPTAN1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SPTAN1 Gene

Localization for SPTAN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPTAN1 Gene

Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Expressed along the cell membrane in podocytes and presumptive tubule cells during glomerulogenesis and is expressed along lateral cell margins in tubule cells. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPTAN1 Gene COMPARTMENTS Subcellular localization image for SPTAN1 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
cytosol 4
plasma membrane 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SPTAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005916 fascia adherens IEA --
GO:0008091 spectrin TAS 2307671
GO:0015630 microtubule cytoskeleton IDA --
GO:0016020 membrane TAS 2307671
genes like me logo Genes that share ontologies with SPTAN1: view

Pathways & Interactions for SPTAN1 Gene

SuperPathways for SPTAN1 Gene

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 Apoptotic cleavage of cellular proteins
.32
3 Immune System
4 Signaling by GPCR
5 Developmental Biology
genes like me logo Genes that share pathways with SPTAN1: view

Pathways by source for SPTAN1 Gene

PCR Array Products

SIGNOR curated interactions for SPTAN1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SPTAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0006915 apoptotic process TAS --
GO:0006921 cellular component disassembly involved in execution phase of apoptosis TAS --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with SPTAN1: view

Drugs & Compounds for SPTAN1 Gene

(7) Drugs for SPTAN1 Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dexamethasone Approved, Investigational Pharma Agonist 1806
Etoposide Approved Pharma Topo II inhibitor, Topoisomerase 2 Inhibitors, Topoisomerase II inhibitor 1127
Calcium Nutra 0
ATP Pharma Activator 0
cysteine Nutra 143

(5) Additional Compounds for SPTAN1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
adpribose
Calpeptin
117591-20-5
Ceramide
3102-57-6
glutamate
SBDP
genes like me logo Genes that share compounds with SPTAN1: view

Transcripts for SPTAN1 Gene

Unigene Clusters for SPTAN1 Gene

Spectrin, alpha, non-erythrocytic 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPTAN1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c · 17d ^ 18a · 18b ·
SP1:
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: - - - - - - - - - - - - - - - - - -
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:

ExUns: 18c · 18d ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33a · 33b · 33c ^
SP1: - - - -
SP2:
SP3: - - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - - -
SP16:
SP17:
SP18:
SP19: -
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:

ExUns: 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b ^ 42a · 42b ^ 43 ^ 44 ^ 45a · 45b ^ 46a · 46b ^ 47 ^ 48a · 48b ^ 49 ^ 50a · 50b ^ 51 ^ 52 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:

ExUns: 53 ^ 54a · 54b ^ 55 ^ 56a · 56b ^ 57a · 57b ^ 58 ^ 59a · 59b ^ 60 ^ 61a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - -
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16: - - - -
SP17:
SP18:
SP19:
SP20:
SP21: - -
SP22:
SP23:
SP24:
SP25:
SP26:

Relevant External Links for SPTAN1 Gene

GeneLoc Exon Structure for
SPTAN1
ECgene alternative splicing isoforms for
SPTAN1

Expression for SPTAN1 Gene

mRNA expression in normal human tissues for SPTAN1 Gene

Protein differential expression in normal tissues from HIPED for SPTAN1 Gene

This gene is overexpressed in Spinal cord (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPTAN1 Gene



SOURCE GeneReport for Unigene cluster for SPTAN1 Gene Hs.372331

genes like me logo Genes that share expression patterns with SPTAN1: view

Protein tissue co-expression partners for SPTAN1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SPTAN1 Gene

Orthologs for SPTAN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPTAN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPTAN1 35
  • 90.04 (n)
  • 99.11 (a)
SPTAN1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPTAN1 35
  • 90.54 (n)
  • 98.51 (a)
SPTAN1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sptan1 35
  • 89.48 (n)
  • 98.43 (a)
Sptan1 16
Sptan1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPTAN1 35
  • 99.61 (n)
  • 99.84 (a)
SPTAN1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sptan1 35
  • 89.28 (n)
  • 98.42 (a)
oppossum
(Monodelphis domestica)
Mammalia SPTAN1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPTAN1 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPTAN1 35
  • 82.9 (n)
  • 96.33 (a)
SPTAN1 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sptan1 35
  • 80.01 (n)
  • 93.32 (a)
Str.817 35
African clawed frog
(Xenopus laevis)
Amphibia sptan1-A 35
zebrafish
(Danio rerio)
Actinopterygii spna2 35
  • 79.91 (n)
  • 90.31 (a)
wufa20e05 35
spna2 36
  • 90 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.415 35
fruit fly
(Drosophila melanogaster)
Insecta alpha-Spec 37
  • 64 (a)
alpha-Spec 35
  • 64.58 (n)
  • 66.07 (a)
alpha-Spec 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006686 35
  • 65.07 (n)
  • 66.74 (a)
worm
(Caenorhabditis elegans)
Secernentea spc-1 37
  • 57 (a)
spc-1 35
  • 60.37 (n)
  • 59.95 (a)
spc-1 36
  • 59 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11232 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 72 (a)
OneToOne
Species with no ortholog for SPTAN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SPTAN1 Gene

ENSEMBL:
Gene Tree for SPTAN1 (if available)
TreeFam:
Gene Tree for SPTAN1 (if available)

Paralogs for SPTAN1 Gene

Paralogs for SPTAN1 Gene

(14) SIMAP similar genes for SPTAN1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for SPTAN1 Gene

genes like me logo Genes that share paralogs with SPTAN1: view

Variants for SPTAN1 Gene

Sequence variations from dbSNP and Humsavar for SPTAN1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs75119678 -- 128,599,081(+) TTGCT(A/G)TTCCT intron-variant
rs75086467 -- 128,629,707(+) TCCCT(C/T)CCTGG intron-variant
rs75053418 -- 128,591,007(+) TGGCA(A/G)GTGAG intron-variant
rs75028792 Benign, Benign 128,632,704(+) GACAC(A/G)GTGGA synonymous-codon, reference
rs74920594 -- 128,563,732(+) TTTTT(G/T)TGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPTAN1 Gene

Variant ID Type Subtype PubMed ID
nsv526979 CNV Gain 19592680
esv267771 CNV Insertion 20981092
esv2739074 CNV Deletion 23290073
nsv416781 CNV Loss 16902084
esv2666546 CNV Deletion 23128226

Variation tolerance for SPTAN1 Gene

Residual Variation Intolerance Score: .28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPTAN1 Gene

HapMap Linkage Disequilibrium report
SPTAN1
Human Gene Mutation Database (HGMD)
SPTAN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPTAN1 Gene

Disorders for SPTAN1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SPTAN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 5
  • eiee5
west syndrome
  • epileptic encephalopathy, early infantile, 1
quadriplegia
  • quadriplegia, unspecified
spastic quadriplegia
  • cerebral palsy
sjogren's syndrome
  • xerodermosteosis
- elite association

UniProtKB/Swiss-Prot

SPTN1_HUMAN
  • Epileptic encephalopathy, early infantile, 5 (EIEE5) [MIM:613477]: A disorder characterized by seizures associated with hypsarrhythmia, profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia. {ECO:0000269 PubMed:20493457}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SPTAN1

Genetic Association Database (GAD)
SPTAN1
Human Genome Epidemiology (HuGE) Navigator
SPTAN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPTAN1
genes like me logo Genes that share disorders with SPTAN1: view

No data available for Genatlas for SPTAN1 Gene

Publications for SPTAN1 Gene

  1. Caspases rather than calpains mediate remodelling of the fodrin skeleton during human placental trophoblast fusion. (PMID: 19798107) Gauster M. … Huppertz B. (Cell Death Differ. 2010) 23 67
  2. AP-1 inhibitory peptides are neuroprotective following acute glutamate excitotoxicity in primary cortical neuronal cultures. (PMID: 19878434) Meade A.J. … Knuckey N.W. (J. Neurochem. 2010) 23 67
  3. alphaII-Spectrin breakdown product cerebrospinal fluid exposure metrics suggest differences in cellular injury mechanisms after severe traumatic brain injury. (PMID: 19206997) Brophy G.M. … Hayes R.L. (J. Neurotrauma 2009) 23 67
  4. Identification of biomarkers associated with migraine with aura. (PMID: 19428688) Nagata E. … Takagi S. (Neurosci. Res. 2009) 23 67
  5. Prevalence of alpha-fodrin antibodies in patients with chronic hepatitis C infection and SjAPgren syndrome. (PMID: 19462335) Potthoff A. … Wedemeyer H. (Scand. J. Gastroenterol. 2009) 23 67

Products for SPTAN1 Gene

Sources for SPTAN1 Gene

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