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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPTAN1 Gene

protein-coding   GIFtS: 68
GCID: GC09P131314

Spectrin, Alpha, Non-Erythrocytic 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Apoptosis and survival FAS signaling cascades and NCAM signaling for neurite out-growth. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SPTAN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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 with isoform 1 of ACP1. Interacts with CALM and EMD. Interacts (via C-terminal
spectrin repeats) with TRPC4. Identified in a complex with ACTN4, CASK, IQGAP1, MAGI2, NPHS1 and SPTBN1 (By
similarity)
Subcellular location: 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)
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:

  • UniProtKB: Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13813

  • SPTAN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPTAN1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001123910.1  NP_001182461.1  NP_003118.2  

    ENSEMBL proteins: 
     ENSP00000361816   ENSP00000361824   ENSP00000350882  
    Reactome Protein details: Q13813
    Human Recombinant Protein Products for SPTAN1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPTAN1 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    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

    SPTAN1 for ontologies           About GeneDecksing



    SPTAN1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for SPTAN1 
    Cloud-Clone Corp. CLIAs for SPTAN1


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

    5/8 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-like_dom

    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


    SPTAN1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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--
         
    SPTAN1 for ontologies           About GeneDecksing


    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 
     mortality/aging  nervous system  normal 

    SPTAN1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPTAN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPTAN1

       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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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SPTAN1:
    hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidSPTAN1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): SPTAN1 (NM_001130438)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTAN1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SPTAN1 About   (see all 15)                                                                                              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
    2Developmental Biology
    Axon guidance0.70
    Developmental Biology0.70
    NCAM signaling for neurite out-growth0.70
    3Axon guidance
    Axon guidance0.69
    L1CAM interactions0.39
    Developmental Biology0.69
    4Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.73
    Caspase-mediated cleavage of cytoskeletal proteins0.32
    Apoptotic execution phase0.73
    5Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SPTAN1
        Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation

    3 Downloadable PowerPoint Slides of QIAGEN 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

    5/14        Reactome Pathways for SPTAN1 (see all 14)
        L1CAM interactions
    Nephrin interactions
    Developmental Biology
    Interaction between L1 and Ankyrins
    Apoptotic execution phase


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


    SPTAN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPTAN1

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

    5/918 Interacting proteins for SPTAN1 (Q138131, 2, 3 ENSP000003618244) via UniProtKB, MINT, STRING, and/or I2D (see all 918)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLH1P406921, 2, 3EBI-351450,EBI-744248 MINT-7945693 I2D: score=2 
    EVLQ9UI082, 3, ENSP000003766524MINT-7211689 MINT-7211745 MINT-7211676 MINT-7211761 I2D: score=3 STRING: ENSP00000376652
    FANCGO152872, 3, ENSP000003679104MINT-7231728 MINT-7231786 MINT-7231852 MINT-7231752 I2D: score=2 STRING: ENSP00000367910
    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 (GO ID links to tree view):    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--

    SPTAN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SPTAN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    10/12 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)

    Search CenterWatch for drugs/clinical trials and news about SPTAN1 / SPTN1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/45 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 

    24/720 AceView cDNA sequences (see all 720):

    D51827 AA350507 BM705183 BQ023888 BF934521 CR594344 BF970112 CR594002 
    BI012240 BF569195 CA426235 BU734728 BQ366329 CD105514 BQ722222 BQ716796 
    AA342979 BI764930 CB158710 BQ045207 BM988758 BM851479 BX414957 N69784 

    GeneLoc Exon Structure

    5/26 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPTAN1 expression in normal human tissues (normalized intensities)      SPTAN1 embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 21 entries
             Thalamus
             Septum   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 4 entries
             autonomic/sympathetic/ganglion   
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Dorsal Horn   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Midgut
     
     Neural Tube (Nervous System)
             Spinal Ventral Columns

    See SPTAN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPTAN1

    SOURCE GeneReport for Unigene cluster: Hs.372331
        SABiosciences Expression via Pathway-Focused 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
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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

    This gene was present in the common ancestor of animals.

    Orthologs for SPTAN1 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sptan15
    Spna21
    spectrin alpha 21, 5 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 
    lizard
    (Anolis carolinensis)
    Reptilia SPTAN16
    Uncharacterized protein
    94(a)
    1 ↔ 1
    GL344579.1(5-27937)
    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
    64.59(n)1
    66.03(a)1
      62B43
    382311  NM_057391.31  NP_476739.11 
    worm
    (Caenorhabditis elegans)
    Secernentea spc-11 , 3 spectrin alpha chain3
    Protein SPC-11
    57(a)3
    60.35(n)1
    59.95(a)1
      X(3153244-3162361)3
    1806031  NM_076136.41  NP_508537.11 


    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)
    About This Section
    Paralogs for SPTAN1 gene
    ACTN42  SPTBN22  SYNE22  SPTA12  SPTBN42  SPTB2  SPTBN12  ACTN22  
    SPTBN52  SYNE12  ACTN12  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    ACTN4    HSpTB1    CALM3    ACTN3    CALM1
    CALM2    CALML3

    SPTAN1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2051 SNPs in SPTAN1 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/35 diseases for SPTAN1 (see all 35):    About MalaCards
    epileptic encephalopathy, early infantile, 5    infantile epileptic encephalopathy    merrf syndrome    spastic quadriplegia
    sjogren's syndrome    quadriplegia    traumatic brain injury    migraine with aura
    west syndrome    autoimmune pancreatitis    head injury    brain injury
    fanconi's anemia    limb-girdle muscular dystrophy    migraine    ischemia
    schizophrenia    spasticity    anemia    muscular dystrophy


    SPTAN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/17 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

    PubMed articles for SPTAN1 gene, integrated from 9 sources (see all 239):
    (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. (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. (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. (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. (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. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. Dominant-negative mutations in alpha-II spectrin caus e West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. (PubMed id 20493457)1, 2 Saitsu H....Matsumoto N. (2010)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 6709 HGNC: 11273 AceView: SPTAN1 Ensembl:ENSG00000197694 euGenes: HUgn6709
    ECgene: SPTAN1 Kegg: 6709 H-InvDB: SPTAN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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