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SPIRE1 Gene

protein-coding   GIFtS: 57
GCID: GC18M012446

Spire-Type Actin Nucleation Factor 1

(Previous names: spire homolog 1 (Drosophila), spire family actin nucleation...)
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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)
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Aliases
Spire-Type Actin Nucleation Factor 11 2     Spire Actin Nucleation Factor 12
Spire Family Actin Nucleation Factor 11 2     Spire Homolog 12
Spir-12 3     KIAA11353
Spire Homolog 1 (Drosophila)1     SPIR13
Protein Spire Homolog 12     

External Ids:    HGNC: 306221   Entrez Gene: 569072   Ensembl: ENSG000001342787   OMIM: 6092165   UniProtKB: Q08AE83   

Export aliases for SPIRE1 gene to outside databases

Previous GC identifers: GC18M012437 GC18M012438


(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 SPIRE1 Gene:
Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich
homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 (PubMed
11747823)).(supplied by OMIM, Mar 2008)

GeneCards Summary for SPIRE1 Gene:
SPIRE1 (spire-type actin nucleation factor 1) is a protein-coding gene. GO annotations related to this gene include actin binding. An important paralog of this gene is SPIRE2.

UniProtKB/Swiss-Prot: SPIR1_HUMAN, Q08AE8
Function: Acts as a actin nucleation factor, remains associated with the slow-growing pointed end of the new
filament. Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin
cytoskeleton dynamics and intracellular transport. Required for asymmetric spindle positioning and asymmetric
cell division during meiosis. Required for normal formation of the cleavage furrow and for polar body extrusion
during female germ cell meiosis




(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_000018.9  NT_010859.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPIRE1 gene promoter:
         PPAR-gamma1   GATA-3   PPAR-gamma2   HNF-3beta   GATA-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPIRE1 promoter sequence
   Search Chromatin IP Primers for SPIRE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPIRE1


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

Entrez Gene cytogenetic band: 18p11.21   Ensembl cytogenetic band:  18p11.21   HGNC cytogenetic band: 18p11.21

SPIRE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPIRE1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M012446:  view genomic region     (about GC identifiers)

Start:
12,446,511 bp from pter      End:
12,658,133 bp from pter
Size:
211,623 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SPIR1_HUMAN, Q08AE8 (See protein sequence)
Recommended Name: Protein spire homolog 1  
Size: 756 amino acids; 85544 Da
Subunit: Interacts with FMN2
Sequence caution: Sequence=AAI15006.1; Type=Erroneous initiation; Sequence=AAI25207.1; Type=Erroneous initiation;
Sequence=AAI25208.1; Type=Erroneous initiation; Sequence=BAA86449.2; Type=Erroneous initiation;
4 PDB 3D structures from and Proteopedia for SPIRE1:
2YLE (3D)        2YLF (3D)        3R7G (3D)        3RBW (3D)    
Secondary accessions: A8K2B5 J3KQ50 Q1RMD4 Q8NDP1 Q9NQ71 Q9ULT4
Alternative splicing: 4 isoforms:  Q08AE8-1   Q08AE8-2   Q08AE8-3   Q08AE8-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPIRE1: NX_Q08AE8

Explore proteomics data for SPIRE1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPIRE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001122098.1  NP_001122099.1  NP_064533.3  

    ENSEMBL proteins: 
     ENSP00000387266   ENSP00000387226   ENSP00000309661   ENSP00000404752   ENSP00000407050  
     ENSP00000466531   ENSP00000401392   ENSP00000467103   ENSP00000467943   ENSP00000372847  

    SPIRE1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for SPIRE1
    OriGene Protein Over-expression Lysate for SPIRE1
    OriGene MassSpec for SPIRE1
    OriGene Custom Protein Services for SPIRE1
    GenScript Custom Purified and Recombinant Proteins Services for SPIRE1
    Novus Biologicals SPIRE1 Proteins
    Novus Biologicals SPIRE1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPIRE1

     
    Search eBioscience for Proteins for SPIRE1 

     
    antibodies-online proteins for SPIRE1 (4 products) 

     
    antibodies-online peptides for SPIRE1

    SPIRE1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals SPIRE1 Antibodies
    Abcam antibodies for SPIRE1
    Cloud-Clone Corp. Antibodies for SPIRE1
    Search ThermoFisher Antibodies for SPIRE1
    antibodies-online antibodies for SPIRE1 (14 products) 

    SPIRE1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SPIRE1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SPIRE1
    Cloud-Clone Corp. CLIAs for SPIRE1
    Search eBioscience for ELISAs for SPIRE1 
    antibodies-online kits for SPIRE1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011019 KIND
     IPR013083 Znf_RING/FYVE/PHD
     IPR011011 Znf_FYVE_PHD

    Graphical View of Domain Structure for InterPro Entry Q08AE8

    ProtoNet protein and cluster: Q08AE8

    UniProtKB/Swiss-Prot: SPIR1_HUMAN, Q08AE8
    Domain: Binds to actin monomers via the WH2 domain (By similarity)
    Domain: The Spir-box targets binding to intracellular membrane structures
    Similarity: Belongs to the spire family
    Similarity: Contains 1 KIND domain
    Similarity: Contains 2 WH2 domains


    Find genes that share domains with SPIRE1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: SPIR1_HUMAN, Q08AE8
    Function: Acts as a actin nucleation factor, remains associated with the slow-growing pointed end of the new
    filament. Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin
    cytoskeleton dynamics and intracellular transport. Required for asymmetric spindle positioning and asymmetric
    cell division during meiosis. Required for normal formation of the cleavage furrow and for polar body extrusion
    during female germ cell meiosis

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
         
    Find genes that share ontologies with SPIRE1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SPIRE1:
     Decreased viability with pacli 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SPIRE1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SPIRE1:
    hsa-mir-101-3p (MIRT027361), hsa-mir-186-5p (MIRT021111), hsa-mir-99a-5p (MIRT048628), hsa-mir-335-5p (MIRT018998), hsa-mir-484 (MIRT042086), hsa-mir-151a-5p (MIRT019528), hsa-mir-769-5p (MIRT039199)

    Block miRNA regulation of human, mouse, rat SPIRE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPIRE1 (see all 66):
    hsa-miR-579 hsa-miR-607 hsa-miR-192* hsa-miR-761 hsa-miR-130b hsa-miR-3622a-5p hsa-miR-1206 hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmidSPIRE1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SPIRE1
    Predesigned siRNA for gene silencing in human, mouse, rat SPIRE1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SPIRE1

    Clone
    Products:
         
    OriGene clones in human, mouse for SPIRE1 (see all 20)
    OriGene ORF clones in mouse, rat for SPIRE1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SPIRE1 (NM_020148)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPIRE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPIRE1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SPIRE1
    Browse ESI BIO Cell Lines and PureStem Progenitors for SPIRE1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPIRE1


    (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
    SPIR1_HUMAN, Q08AE8: Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Cell membrane; Peripheral membrane
    protein; Cytoplasmic side. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side (By
    similarity). Note=Detected at the cleavage furrow during asymmetric oocyte division and polar body extrusion (By
    similarity). Punctate spots in perinuclear region and cytoplasm, colocalized with Rab11
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    nucleus3
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane IEA--
    GO:0005938cell cortex ISS--
    GO:0030659cytoplasmic vesicle membrane ISS--

    Find genes that share ontologies with SPIRE1           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 SPIRE1 About    
    See pathways by source

    SuperPathContained pathways About
    1TGF-Beta Pathway
    JNK Pathway0.51
    2Dorso-ventral axis formation
    Dorso-ventral axis formation


    Find genes that share SuperPaths with SPIRE1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SPIRE1
        JNK Pathway


    1 Kegg Pathway  (Kegg details for SPIRE1):
        Dorso-ventral axis formation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPIRE1
    Interactions:

        Search GeneGlobe Interaction Network for SPIRE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for SPIRE1 (Q08AE81, 2, 3 ENSP000003872664) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFNP319472, 3MINT-3975331 I2D: score=2 
    YWHAQP273481, 3, ENSP000002380814EBI-1055655,EBI-359854 I2D: score=2 STRING: ENSP00000238081
    ACTG1P632613, ENSP000003315144I2D: score=2 STRING: ENSP00000331514
    EEF1A1P681043I2D: score=5 
    MAPK10P537793I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0016192vesicle-mediated transport ISS--
    GO:0030036actin cytoskeleton organization IMP--
    GO:0036089cleavage furrow formation ISS--
    GO:0040038polar body extrusion after meiotic divisions ISS--

    Find genes that share ontologies with SPIRE1           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 SPIRE1 (SPIR1)



    (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 SPIRE1 gene (3 alternative transcripts): 
    NM_001128626.1  NM_001128627.1  NM_020148.2  

    Unigene Cluster for SPIRE1:

    Spire homolog 1 (Drosophila)
    Hs.515283  [show with all ESTs]
    Unigene Representative Sequence: AB032961
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409402(uc002kre.3) ENST00000410092(uc010wzy.2) ENST00000309836
    ENST00000440472 ENST00000453447(uc002krc.3 uc010wzw.2 uc010wzx.2)
    ENST00000498803 ENST00000464481 ENST00000592156 ENST00000588236 ENST00000487491
    ENST00000449797 ENST00000497844 ENST00000462226 ENST00000383356
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SPIRE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPIRE1 (see all 66):
    hsa-miR-579 hsa-miR-607 hsa-miR-192* hsa-miR-761 hsa-miR-130b hsa-miR-3622a-5p hsa-miR-1206 hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmidSPIRE1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPIRE1
    Predesigned siRNA for gene silencing in human, mouse, rat SPIRE1
    Clone
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    OriGene clones in human, mouse for SPIRE1 (see all 20)
    OriGene ORF clones in mouse, rat for SPIRE1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SPIRE1 (NM_020148)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPIRE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPIRE1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SPIRE1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPIRE1
      QuantiTect SYBR Green Assays in human, mouse, rat SPIRE1
      QuantiFast Probe-based Assays in human, mouse, rat SPIRE1

    Additional mRNA sequence: 

    AB032961.2 AJ277587.1 AK025433.1 AK090999.1 AK128548.1 AK290180.1 AK301711.1 AL833817.1 
    BC016825.1 BC115005.1 BC125206.1 BC125207.1 BC128430.1 

    13 DOTS entries:

    DT.443767  DT.121092446  DT.100779133  DT.121092442  DT.95288984  DT.95332637  DT.91755441  DT.95273359 
    DT.100734853  DT.100722514  DT.40226840  DT.75158231  DT.97824867 

    Selected AceView cDNA sequences (see all 203):

    CK300216 BM966980 BI830317 BQ448036 BQ045186 AL833817 AA373844 BX282527 
    BX952231 CF541356 Z42232 N22268 CA841925 AA367511 AB032961 AI692699 
    AW963255 BE826960 F09076 CA433287 BE782810 BM835937 AI183325 AA195531 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SPIRE1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b · 21c
    SP1:                                                                    -                       -                 -                                 
    SP2:                    -     -                                                                 -                 -                                 
    SP3:                                                                                                              -                                 
    SP4:                                                                                                                                                
    SP5:                    -     -                                                                                                                     


    ECgene alternative splicing isoforms for SPIRE1

    (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)
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    SPIRE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGGTACTAA
    SPIRE1 Expression
    About this image


    SPIRE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Testis (Reproductive System)
    SPIRE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPIRE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515283
        Custom PCR Arrays for SPIRE1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SPIRE1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPIRE1
    QuantiTect SYBR Green Assays in human, mouse, rat SPIRE1
    QuantiFast Probe-based Assays in human, mouse, rat SPIRE1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPIRE1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SPIRE1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spire11 , 5 spire homolog 1 (Drosophila)1, 5 84.45(n)1
    89.02(a)1
      18 (39.99 cM)5
    681661  NM_194355.21  NP_919336.11 
     674882095 
    chicken
    (Gallus gallus)
    Aves SPIRE11 spire homolog 1 (Drosophila) 77.31(n)
    84.17(a)
      421033  XM_004939720.1  XP_004939777.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    31(a)
    many ↔ many
    3(175990545-176008200)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia spire11 spire homolog 1 (Drosophila) 68.35(n)
    72.11(a)
      100492330  XM_002936079.2  XP_002936125.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.272302 Transcribed sequence 75.51(n)    57036220 
    fruit fly
    (Drosophila melanogaster)
    Insecta spir6
    spire
    21(a)
    1 → many
    2L(20311219-20348386)


    ENSEMBL Gene Tree for SPIRE1 (if available)
    TreeFam Gene Tree for SPIRE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPIRE1 gene
    SPIRE22  
    1 SIMAP similar gene for SPIRE1 using alignment to 8 protein entries:     SPIR1_HUMAN (see all proteins):
    SPIRE2

    Find genes that share paralogs with SPIRE1           About GenesLikeMe



    (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)
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    Selected SNPs for SPIRE1 (see all 4387)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1896860871,2
    --12446029(+) GAGGCA/GGAGTC 3 -- ds50010--------
    rs1403809041,2
    --12446075(+) ATCTCA/CGCTCA 3 -- ds50010--------
    rs72361831,2
    C,A--12446099(+) ctgccA/Gggttc 3 -- ds50010--------
    rs1823065071,2
    --12446108(+) TCAAGC/TGATTC 3 -- ds50010--------
    rs129594591,2
    C,F--12446116(+) ttcttG/Ctgcct 3 -- ds50013Minor allele frequency- C:0.11NA 124
    rs286031941,2
    C--12446162(+) ACCACA/GCCTGG 3 -- ds50010--------
    rs1113376431,2
    C--12446213(+) TTGGCC/TACCAT 3 -- ds50014Minor allele frequency- T:0.41NA WA EA 360
    rs5099891,2
    C,F--12446272(-) AAGTAG/CCTGGG 3 -- ds50016Minor allele frequency- C:0.27NA WA CSA 11
    rs1856932881,2
    --12446307(+) TTGAAC/TTCCTG 3 -- ds50010--------
    rs1913463281,2
    --12446444(+) AATTGA/TGGTGA 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for SPIRE1 (12446511 - 12658133 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPIRE1 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668760CNV Deletion23128226
    esv2656705CNV Deletion23128226
    esv2716814CNV Deletion23290073
    esv2678776CNV Deletion23128226
    esv2716813CNV Deletion23290073
    nsv2207CNV Insertion18451855
    nsv130820CNV Insertion16902084
    nsv2208CNV Loss18451855
    nsv512517CNV Loss21212237
    nsv131761CNV Loss16902084

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPIRE1
    DNA2.0 Custom Variant and Variant Library Synthesis for SPIRE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609216    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for SPIRE1:
    Smallpox

    Find genes that share disorders with SPIRE1           About GenesLikeMe

    Genetic Association Database (GAD): SPIRE1
    Human Genome Epidemiology (HuGE) Navigator: SPIRE1 (1 document)

    Export disorders for SPIRE1 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)
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    PubMed articles for SPIRE1 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with SPIRE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The Spir actin organizers are involved in vesicle transport processes. (PubMed id 11747823)1, 2, 3 Kerkhoff E.... Pepperkok R. (Curr. Biol. 2001)
    2. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2, 3 Hirosawa M.... Ohara O. (DNA Res. 1999)
    3. Molecular basis of actin nucleation factor cooperativity: crystal structure of the Spir-1 kinase non-catalytic C-lobe domain (KIND)*formin-2 formin SPIR interaction motif (FSI) complex. (PubMed id 21705804)1, 2 Zeth K....Kerkhoff E. (J. Biol. Chem. 2011)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Genome-wide association study of antibody response to smallpox vaccine. (PubMed id 22542470)1 Ovsyannikova I.G....Poland G.A. (Vaccine 2012)
    7. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    8. Structure and function of the interacting domains of Spire and Fmn- family formins. (PubMed id 21730168)2 Vizcarra C.L.... Eck M.J. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    9. Spire-type actin nucleators cooperate with Formin-2 to drive asymmetric oocyte division. (PubMed id 21620703)2 Pfender S.... Schuh M. (Curr. Biol. 2011)
    10. Identification of a short Spir interaction sequence at the C-terminal end of formin subgroup proteins. (PubMed id 19605360)1 Pechlivanis M....Kerkhoff E. (J. Biol. Chem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 56907 HGNC: 30622 AceView: SPIRE1 Ensembl:ENSG00000134278 euGenes: HUgn56907
    ECgene: SPIRE1 Kegg: 56907 H-InvDB: SPIRE1

    (According to HUGE)
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    HUGE: KIAA1135

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SPIRE1 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 SPIRE1 gene:
    Search GeneIP for patents involving SPIRE1

    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, eBioscience, antibodies-online, 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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