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Aliases for SPTAN1 Gene

Aliases for SPTAN1 Gene

  • Spectrin Alpha, Non-Erythrocytic 1 2 3 5
  • 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 Alpha Chain, Non-Erythrocytic 1 3
  • 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 RET signaling and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is SPTA1.

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

Additional gene information for SPTAN1 Gene

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

Genomics for SPTAN1 Gene

GeneHancer (GH) Regulatory Elements for SPTAN1 Gene

Promoters and enhancers for SPTAN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I128549 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.2 2237 10.5 FEZF1 IRF4 YY1 E2F8 SP3 MEF2D ZNF610 GLIS1 RCOR2 NBN SPTAN1 URM1 TOR2A MIGA2 KYAT1 LRRC8A ENSG00000273186 LOC101929270 ENSG00000280474
GH09I128770 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.5 +219.1 219057 2.7 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZER1 LOC101929314 ENSG00000272696 SPTAN1 NUP188 CERCAM LOC101929270 GLE1 SPOUT1 CDK9
GH09I129025 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 +474.7 474687 2.9 HDGF CLOCK ARID4B NEUROD1 SIN3A ZNF2 ZBTB7B ZNF143 DEK SP3 SH3GLB2 LOC101929314 C9orf50 SPTAN1 ENSG00000272696
GH09I128503 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.2 -47.8 -47833 2.5 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 POLR2B ZNF207 GLE1 NAIF1 COQ4 ODF2-AS1 NUP188 WDR34 SPTAN1 LOC101929270 RNU7-171P
GH09I128877 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.7 +330.7 330726 12.3 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 E2F8 KYAT1 LRRC8A NUP188 NAIF1 GLE1 SPOUT1 PHYHD1 TOR1B DOLK PKN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPTAN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPTAN1 gene promoter:

Genomic Locations for SPTAN1 Gene

Genomic Locations for SPTAN1 Gene
chr9:128,552,558-128,633,665
(GRCh38/hg38)
Size:
81,108 bases
Orientation:
Plus strand
chr9:131,314,837-131,395,944
(GRCh37/hg19)

Genomic View for SPTAN1 Gene

Genes around SPTAN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPTAN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for SPTAN1 Gene

  • Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro.
  • Ubiquitination at posLast=15191519 and posLast=24262426

No data available for DME Specific Peptides for SPTAN1 Gene

Domains & Families for SPTAN1 Gene

Gene Families for SPTAN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q13813

UniProtKB/Swiss-Prot:

SPTN1_HUMAN :
  • Belongs to the spectrin family.
Family:
  • Belongs to the spectrin family.
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,TAS --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005200 structural constituent of cytoskeleton TAS 2307671
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12571280
genes like me logo Genes that share ontologies with SPTAN1: view
genes like me logo Genes that share phenotypes with SPTAN1: view

Human Phenotype Ontology for SPTAN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SPTAN1 Gene

MGI Knock Outs for SPTAN1:

Animal Model Products

miRNA for SPTAN1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPTAN1 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
plasma membrane 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (3)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPTAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005938 cell cortex IEA --
genes like me logo Genes that share ontologies with SPTAN1: view

Pathways & Interactions for SPTAN1 Gene

SuperPathways for SPTAN1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Transport to the Golgi and subsequent modification
3 Apoptotic cleavage of cellular proteins
4 Innate Immune System
5 Sertoli-Sertoli Cell Junction Dynamics
genes like me logo Genes that share pathways with SPTAN1: view

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:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007010 cytoskeleton organization IEA --
GO:0007411 axon guidance TAS --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with SPTAN1: view

Drugs & Compounds for SPTAN1 Gene

(9) Drugs for SPTAN1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0

(3) Additional Compounds for SPTAN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SPTAN1 Gene



Protein tissue co-expression partners for SPTAN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPTAN1 Gene:

SPTAN1

SOURCE GeneReport for Unigene cluster for SPTAN1 Gene:

Hs.372331

Evidence on tissue expression from TISSUES for SPTAN1 Gene

  • Heart(5)
  • Liver(5)
  • Nervous system(5)
  • Lung(4.8)
  • Kidney(3.9)
  • Adrenal gland(3.8)
  • Intestine(3.7)
  • Eye(3.6)
  • Gall bladder(3.6)
  • Blood(2.7)
  • Pancreas(2.7)
  • Muscle(2.4)
  • Skin(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPTAN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SPTAN1: view

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
chimpanzee
(Pan troglodytes)
Mammalia SPTAN1 33 34
  • 99.61 (n)
oppossum
(Monodelphis domestica)
Mammalia SPTAN1 34
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPTAN1 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPTAN1 33 34
  • 90.54 (n)
cow
(Bos Taurus)
Mammalia SPTAN1 33 34
  • 90.04 (n)
mouse
(Mus musculus)
Mammalia Sptan1 33 16 34
  • 89.48 (n)
rat
(Rattus norvegicus)
Mammalia Sptan1 33
  • 89.28 (n)
chicken
(Gallus gallus)
Aves SPTAN1 33 34
  • 82.9 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia sptan1 33
  • 80.01 (n)
Str.817 33
African clawed frog
(Xenopus laevis)
Amphibia sptan1-A 33
zebrafish
(Danio rerio)
Actinopterygii spna2 33 34
  • 79.91 (n)
wufa20e05 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.415 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006686 33
  • 65.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta alpha-Spec 35 33 34
  • 64.58 (n)
worm
(Caenorhabditis elegans)
Secernentea spc-1 35 33 34
  • 60.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 72 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11232 33
Species where no ortholog for SPTAN1 was found in the sources mined by GeneCards:
  • 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