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 nonerythrocy... See more...

Aliases for SPTAN1 Gene

Aliases for SPTAN1 Gene

  • Spectrin Alpha, Non-Erythrocytic 1 2 3 5
  • Spectrin Alpha Chain, Non-Erythrocytic 1 3 4
  • 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
  • Epididymis Secretory Sperm Binding Protein 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 Focal Epilepsy. Among its related pathways are Vesicle-mediated transport and RET signaling. 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 Summary 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 , Rfam classification and piRNA Summary for SPTAN1 Gene

Genomics for SPTAN1 Gene

GeneHancer (GH) Regulatory Elements for SPTAN1 Gene

Promoters and enhancers for SPTAN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPTAN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPTAN1 gene promoter:
  • AML1a
  • AREB6
  • Arnt
  • ATF-2
  • c-Myb
  • Evi-1
  • NF-kappaB
  • Pax-4a
  • Pbx1a
  • STAT5B

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)
Size:
81,108 bases
Orientation:
Plus strand

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 Lys1519 and Lys2426
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Boster Bio Antibodies for SPTAN1

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

Suggested Antigen Peptide Sequences for SPTAN1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59116, highly similar to Spectrin alpha chain, brain (B4DGT1_HUMAN)
  • SPTAN1 protein (Q14917_HUMAN)
  • Spectrin, non-erythroid alpha chain (SPTA2_HUMAN)

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

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.
GENATLAS Biochemistry:
spectrin,alpha,non-erythrocytic 1,intermediate filament associated protein (IFAP,type III),alpha-fodrin,120kDa,candidate autoantigen in primary Sjogren syndrome

Phenotypes From GWAS Catalog for SPTAN1 Gene

Gene Ontology (GO) - Molecular Function for SPTAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,TAS --
GO:0005200 structural constituent of cytoskeleton TAS 2307671
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA,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

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

CRISPR Products

miRNA for SPTAN1 Gene

Clone Products

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
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
cytoskeleton 5
extracellular 4
cytosol 4
nucleus 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 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

PathCards logo

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
.38
.36
genes like me logo Genes that share pathways with SPTAN1: view

Pathways by source for SPTAN1 Gene

1 GeneGo (Thomson Reuters) pathway for SPTAN1 Gene
3 Qiagen pathways for SPTAN1 Gene
  • Apoptosis through Death Receptors
  • Epithelial Tight Junctions
  • Sertoli-Sertoli Cell Junction Dynamics
2 Cell Signaling Technology pathways for SPTAN1 Gene

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 7773

(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

CRISPR Products

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, 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 32
  • 99.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPTAN1 33
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPTAN1 33
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPTAN1 33 32
  • 90.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SPTAN1 33 32
  • 90.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sptan1 17 33 32
  • 89.48 (n)
rat
(Rattus norvegicus)
Mammalia Sptan1 32
  • 89.28 (n)
chicken
(Gallus gallus)
Aves SPTAN1 33 32
  • 82.9 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sptan1 32
  • 80.01 (n)
Str.817 32
African clawed frog
(Xenopus laevis)
Amphibia sptan1-A 32
zebrafish
(Danio rerio)
Actinopterygii spna2 33 32
  • 79.91 (n)
OneToOne
wufa20e05 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.415 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006686 32
  • 65.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta alpha-Spec 33 34 32
  • 64.58 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea spc-1 33 34 32
  • 60.37 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 72 (a)
OneToOne
Cin.11232 32
sea squirt
(Ciona intestinalis)
Ascidiacea