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SPTAN1 Gene

protein-coding   GIFtS: 69
GCID: GC09P131314

Spectrin, Alpha, Non-Erythrocytic 1

  See SPTAN1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Spectrin, Alpha, Non-Erythrocytic 11 2     Spectrin, Non-Erythroid Alpha Subunit2 3
NEAS2 3 5     SPTA22 3
alpha-fodrin1 2     EIEE52 5
Alpha-II Spectrin2 3     Spectrin Alpha Chain, Non-Erythrocytic 12
Fodrin Alpha Chain2 3     Spectrin, Non-Erythroid Alpha Chain2

External Ids:    HGNC: 112731   Entrez Gene: 67092   Ensembl: ENSG000001976947   OMIM: 1828105   UniProtKB: Q138133   

Export aliases for SPTAN1 gene to outside databases

Previous GC identifers: GC09P122429 GC09P122961 GC09P124768 GC09P126690 GC09P126661 GC09P128394 GC09P130355 GC09P100926


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 infantile epileptic encephalopathy. GO annotations related to this gene include actin binding and calcium ion binding. An important paralog of this gene is ACTN4.

UniProtKB/Swiss-Prot: SPTN1_HUMAN, Q13813
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 Wiki entry for SPTAN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPTAN1 gene promoter:
         STAT5B   Pbx1a   AML1a   ATF-2   NF-kappaB   Arnt   Evi-1   AREB6   c-Myb   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPTAN1 promoter sequence
   Search Chromatin IP Primers for SPTAN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPTAN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.11

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P131314:  view genomic region     (about GC identifiers)

Start:
131,314,837 bp from pter      End:
131,395,944 bp from pter
Size:
81,108 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SPTN1_HUMAN, Q13813 (See protein sequence)
Recommended Name: Spectrin alpha chain, non-erythrocytic 1  
Size: 2472 amino acids; 284539 Da
Subunit: 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)
Sequence caution: Sequence=BAD93097.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for SPTAN1:
2FOT (3D)        3F31 (3D)        3FB2 (3D)    
Secondary accessions: Q13186 Q15324 Q16606 Q59EF1 Q5VXV5 Q5VXV6 Q7Z6M5 Q9P0V0
Alternative splicing: 3 isoforms:  Q13813-1   Q13813-2   Q13813-3   

Explore the universe of human proteins at neXtProt for SPTAN1: NX_Q13813

Explore proteomics data for SPTAN1 at MOPED

Post-translational modifications: 

  • Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro (By similarity)1
  • Ubiquitination2 at Lys1519, Lys2426
  • Modification sites at PhosphoSitePlus

  • See SPTAN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001123910.1  NP_001182461.1  NP_003118.2  

    ENSEMBL proteins: 
     ENSP00000361816   ENSP00000361824   ENSP00000350882  
    Reactome Protein details: Q13813

    SPTAN1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    Selected InterPro protein domains (see all 8):
     IPR014837 EF-hand_Ca_insen
     IPR013315 Spectrin_alpha_SH3
     IPR018247 EF_Hand_1_Ca_BS
     IPR002017 Spectrin_repeat
     IPR011992 EF-hand-dom_pair

    Graphical View of Domain Structure for InterPro Entry Q13813

    ProtoNet protein and cluster: Q13813

    2 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB002017 Spectrin repeat


    UniProtKB/Swiss-Prot: SPTN1_HUMAN, Q13813
    Similarity: Belongs to the spectrin family
    Similarity: Contains 3 EF-hand domains
    Similarity: Contains 1 SH3 domain
    Similarity: Contains 23 spectrin repeats


    Find genes that share domains with SPTAN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPTN1_HUMAN, Q13813
    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 entry for SPTAN1:
    spectrin,alpha,non-erythrocytic 1,intermediate filament associated protein (IFAP,type
    III),alpha-fodrin,120kDa,candidate autoantigen in primary Sjogren syndrome

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005200structural constituent of cytoskeleton TAS2307671
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI12571280
    GO:0005516calmodulin binding IEA--
         
    Find genes that share ontologies with SPTAN1           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for SPTAN1:
     Decreased Tat-dependent transc  Decreased focal adhesion (FA)   Decreased p24 protein expressi  Increased G2M DNA content 
     Increased cell size 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sptan1):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size/body 
     mortality/aging  nervous system  normal 

    Find genes that share phenotypes with SPTAN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Sptan1tm1.1Gnic for SPTAN1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPTAN1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPTAN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPTAN1

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    miRTarBase miRNAs that target SPTAN1:
    hsa-mir-93-3p (MIRT038805), hsa-mir-331-3p (MIRT043347), hsa-mir-34a-5p (MIRT025260)

    Block miRNA regulation of human, mouse, rat SPTAN1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate SPTAN1:
    hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidSPTAN1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SPTAN1
    Predesigned siRNA for gene silencing in human, mouse, rat SPTAN1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): SPTAN1 (NM_001130438)
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPTN1_HUMAN, Q13813: 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 (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus2
    plasma membrane2

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005916fascia adherens IEA--
    GO:0008091spectrin TAS2307671
    GO:0015630microtubule cytoskeleton IDA--
    GO:0016020membrane TAS2307671

    Find genes that share ontologies with SPTAN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SPTAN1 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Apoptosis and survival Caspase cascade
    FAS pathway and Stress induction of HSP regulation0.44
    Caspase cascade in apoptosis0.42
    2Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.74
    Caspase-mediated cleavage of cytoskeletal proteins0.00
    Apoptotic execution phase0.74
    3L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    4Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    5Cell junction organization
    Cell-Cell communication0.64


    Find genes that share SuperPaths with SPTAN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SPTAN1
        Sertoli-Sertoli Cell Junction Dynamics
    Apoptosis through Death Receptors
    Epithelial Tight Junctions

    2 Cell Signaling Technology (CST) Pathways for SPTAN1
        Apoptosis and Autophagy
    Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for SPTAN1
        Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation

    2 BioSystems Pathways for SPTAN1
        FAS pathway and Stress induction of HSP regulation
    Caspase cascade in apoptosis

    4 Reactome Pathways for SPTAN1
        Nephrin interactions
    Interaction between L1 and Ankyrins
    Caspase-mediated cleavage of cytoskeletal proteins
    NCAM signaling for neurite out-growth


    1 Kegg Pathway  (Kegg details for SPTAN1):
        Tight junction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SPTAN1: 
              Tight Junctions in human mouse rat
              TNF Ligands & Receptors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SPTAN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SPTAN1 (Q138131, 2, 3 ENSP000003618244) via UniProtKB, MINT, STRING, and/or I2D (see all 954)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EVLQ9UI081, 2, 3, ENSP000003766524EBI-351450,EBI-346653 MINT-7211689 MINT-7211745 MINT-7211676 MINT-7211761 I2D: score=3 STRING: ENSP00000376652
    FANCGO152871, 2, 3, ENSP000003679104EBI-351450,EBI-81610 MINT-7231728 MINT-7231786 MINT-7231852 MINT-7231752 I2D: score=2 STRING: ENSP00000367910
    MLH1P406921, 2, 3EBI-351450,EBI-744248 MINT-7945693 I2D: score=2 
    HSP90AB1P082382, 3MINT-7945693 MINT-72663 MINT-7947479 I2D: score=3 
    ACTBP607092, 3, ENSP000003499604MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000349960
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0007411axon guidance TAS--
    GO:0051693actin filament capping IEA--

    Find genes that share ontologies with SPTAN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPTAN1 (SPTN1)

    1 HMDB Compound for SPTAN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected Novoseek inferred chemical compound relationships for SPTAN1 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sbdp 92.5 1 15948206 (1)
    calpeptin 72.5 2 11474809 (1), 19798107 (1)
    adpribose 34 2 12504520 (1), 10526127 (1)
    cysteine 28.6 3 19072330 (1), 9130714 (1), 12425945 (1)
    ceramide 21 1 7534762 (1)
    calcium 14.5 10 1537825 (1), 16551696 (1), 1875039 (1), 15048160 (1) (see all 8)
    atp 0 5 10854431 (2), 19783801 (2)
    threonine 0 1 17367871 (1)
    glutamate 0 1 19878434 (1)
    serine 0 2 17367871 (1), 15994232 (1)



    Find genes that share compounds with SPTAN1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SPTAN1 gene (3 alternative transcripts): 
    NM_001130438.2  NM_001195532.1  NM_003127.3  

    Unigene Cluster for SPTAN1:

    Spectrin, alpha, non-erythrocytic 1
    Hs.372331  [show with all ESTs]
    Unigene Representative Sequence: NM_001130438
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372731(uc010mye.1 uc010myf.1 uc004bvl.4 uc004bvn.4 uc004bvo.4)
    ENST00000372739(uc004bvm.4) ENST00000497216(uc004bvk.3) ENST00000472211
    ENST00000475367 ENST00000461855 ENST00000476825 ENST00000491712 ENST00000358161(uc011mbg.2 uc011mbh.2)

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      QuantiFast Probe-based Assays in human, mouse, rat SPTAN1

    Additional mRNA sequence: 

    AB191262.1 AB209860.1 AK294753.1 AK300386.1 AK307676.1 AK309836.1 AK310696.1 AL110273.1 
    BC034956.1 BC051801.1 BC053521.1 J05243.1 M18627.1 M19725.1 M24773.1 U26396.1 
    U83867.1 X86901.1 

    Selected DOTS entries (see all 45):

    DT.100652442  DT.91857738  DT.100643121  DT.91770157  DT.91770174  DT.419619  DT.95368690  DT.100652455 
    DT.91770168  DT.40223553  DT.121201317  DT.40238472  DT.92412592  DT.95285248  DT.121201302  DT.91891726 
    DT.121201301  DT.91770169  DT.95139645  DT.102838575  DT.75136282  DT.86821178  DT.91770172  DT.91927996 

    Selected AceView cDNA sequences (see all 720):

    CF138197 BI913819 BP348423 BU628216 AI701294 AV728587 BU754198 BG230571 
    BM702740 AW021444 BQ673854 BU543486 CA390188 BQ716796 AA327459 BQ958536 
    BP355264 BM998742 CD675602 BC051801 BM697096 BM672419 BM664337 CR611709 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SPTAN1 (see all 26)    About this scheme

    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:                                                                                                                                                            

    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:                                                                                                                                                            

    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:                                                                                                                                                            

    ExUns: 53 ^ 54a · 54b ^ 55 ^ 56a · 56b ^ 57a · 57b ^ 58 ^ 59a · 59b ^ 60 ^ 61a ·
    SP1:                                                                              
    SP2:                                                                              
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for SPTAN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SPTAN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAAGACAA
    SPTAN1 Expression
    About this image


    SPTAN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
     
     Neural Tube (Nervous System)
             Spinal Ventral Columns
     
     Brain (Nervous System)
             Cerebellum
    SPTAN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPTAN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.372331
        Pathway & Disease-focused RT2 Profiler PCR Arrays including SPTAN1: 
              Tight Junctions in human mouse rat
              TNF Ligands & Receptors in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SPTAN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPTAN1
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    QuantiFast Probe-based Assays in human, mouse, rat SPTAN1
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTAN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for SPTAN1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sptan11 , 5 spectrin alpha 25
    spectrin alpha, non-erythrocytic 11
    89.48(n)1
    98.43(a)1
      2 (20.93 cM)5
    207401  NM_001177667.11  NP_001171138.11 
     299655605 
    chicken
    (Gallus gallus)
    Aves SPTAN11 spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) 82.9(n)
    96.33(a)
      374234  NM_001042538.1  NP_001036003.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia sptan1-A2 spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) 80.67(n)    X06042.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa20e052 Transcribed sequence with strong similarity to protein more 81.02(n)    CA473456.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta alpha-Spec1 , 3 cytoskeleton organization and
    biogenesis actin more3
    alpha Spectrin1
    64(a)3
    64.58(n)1
    66.07(a)1
      62B43
    382311  NM_001274357.11  NP_001261286.11 
    worm
    (Caenorhabditis elegans)
    Secernentea spc-11 , 3 spectrin alpha chain3
    spc-11
    57(a)3
    60.37(n)1
    59.95(a)1
      X(3153244-3162361)3
    1806031  NM_001270071.11  NP_001257000.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPTAN1 gene
    ACTN42  SPTBN22  SPTA12  SYNE22  SPTBN42  SPTB2  SPTBN12  ACTN22  
    SPTBN52  ACTN12  SYNE12  CLMN2  
    14 SIMAP similar genes for SPTAN1 using alignment to 3 protein entries:     SPTN1_HUMAN (see all proteins):
    DKFZp564P0562    SPTA1    NCK2    ARHGEF7    SPTB    ACTN1
    SH3GL1    HSpTB1    CALM3    ACTN3    ACTN4    CALM1
    CALM2    CALML3

    Find genes that share paralogs with SPTAN1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SPTAN1
    PGOHUM00000249590


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for SPTAN1 (see all 2051)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0354544
    A breast cancer sample4--see VAR_0354542 S C mis40--------
    VAR_0354574
    A breast cancer sample4--see VAR_0354572 D N mis40--------
    VAR_0354554
    A breast cancer sample4--see VAR_0354552 P S mis40--------
    VAR_0354564
    A breast cancer sample4--see VAR_0354562 R W mis40--------
    rs713817711,2
    C--100934823(+) CCTCG-/G/GC  
            
    CCTCC
    3 -- int11NA 2
    rs101176071,2
    A--100937218(+) tatatA/Gtatat 3 -- int10--------
    rs666158661,2
    C--100964742(+) AAAAA-/AGAAAAA 3 -- int10--------
    rs2020508201,2
    C--100964743(+) aaaaa-/AG/G  
            
    aaaaa
    3 -- int10--------
    rs357126021,2
    C--100969302(+) GGCCT-/CAGTTTT 3 -- int10--------
    rs1112856121,2
    C--100973578(+) TTTTTT/-CGGTC 3 -- int11Minor allele frequency- -:0.00CSA 2

    HapMap Linkage Disequilibrium report for SPTAN1 (131314837 - 131395944 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SPTAN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666546CNV Deletion23128226
    esv2739074CNV Deletion23290073
    esv267771CNV Insertion20981092
    nsv416781CNV Loss16902084
    nsv526979CNV Gain19592680

    Human Gene Mutation Database (HGMD): SPTAN1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPTAN1
    DNA2.0 Custom Variant and Variant Library Synthesis for SPTAN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 182810   
    OMIM disorders: 613477  
    UniProtKB/Swiss-Prot: SPTN1_HUMAN, Q13813
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 6 diseases for SPTAN1:    
    About MalaCards
    epileptic encephalopathy, early infantile, 5    infantile epileptic encephalopathy    neonatal lupus erythematosus    quadriplegia
    spastic quadriplegia    west syndrome


    Find genes that share disorders with SPTAN1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SPTAN1 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sjogrens syndrome 79.8 31 9808203 (4), 12848967 (3), 11665980 (3), 11313424 (2) (see all 12)
    sjogrens syndrome primary 67.9 8 12673889 (2), 11246678 (1), 10972902 (1), 9110981 (1) (see all 6)
    fanconis anemia 62.5 3 10551855 (1), 19102630 (1), 12893251 (1)
    xerostomia 52.4 3 17894005 (2)
    autoimmune diseases 52.1 5 11093442 (1), 12815278 (1), 14994394 (1), 15762888 (1)
    lupus erythematosus systemic 36.2 4 11093442 (1), 12673889 (1), 14994395 (1), 14994394 (1)
    autoimmunity 35.3 3 12673889 (1), 16505031 (1), 10078005 (1)
    rheumatoid arthritis 18.5 3 17160656 (1), 11093442 (1), 14994395 (1)
    neurodegenerative diseases 6.96 1 16505031 (1)
    necrosis 4.48 7 9624143 (2), 8940132 (2), 8940103 (1), 19771521 (1)

    Genetic Association Database (GAD): SPTAN1
    Human Genome Epidemiology (HuGE) Navigator: SPTAN1 (5 documents)

    Export disorders for SPTAN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for SPTAN1 gene, integrated from 10 sources (see all 246):
    (articles sorted by number of sources associating them with SPTAN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Brain and muscle express a unique alternative transcript of alphaII spectrin. (PubMed id 10625438)1, 2, 9 Cianci C.D.... Morrow J.S. (Biochemistry 1999)
    2. Site-directed mutagenesis of alpha II spectrin at codon 1175 modulates its mu-calpain susceptibility. (PubMed id 8993318)1, 2, 9 Stabach P.R.... Morrow J.S. (Biochemistry 1997)
    3. Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane. (PubMed id 15328537)1, 2, 9 Holaska J.M.... Wilson K.L. (PLoS Biol. 2004)
    4. Generation of diversity in nonerythroid spectrins. Multiple polypeptides are predicted by sequence analysis of cDNAs encompassing the coding region of human nonerythroid alpha-spectrin. (PubMed id 2307671)1, 2, 9 Moon R.T. and McMahon A.P. (J. Biol. Chem. 1990)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. (PubMed id 20493457)1, 2 Saitsu H.... Matsumoto N. (Am. J. Hum. Genet. 2010)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    9. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 6709 HGNC: 11273 AceView: SPTAN1 Ensembl:ENSG00000197694 euGenes: HUgn6709
    ECgene: SPTAN1 Kegg: 6709 H-InvDB: SPTAN1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SPTAN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SPTAN1 gene:
    Search GeneIP for patents involving SPTAN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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