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    SPIRE1 spire homolog 1 (Drosophila) [ Homo sapiens ]

    Gene ID: 56907, updated on 11-May-2012
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    Summary

    Official Symbol
    SPIRE1provided by HGNC
    Official Full Name
    spire homolog 1 (Drosophila)provided by HGNC
    Primary source
    HGNC:30622
    See related
    Ensembl:ENSG00000134278; HPRD:11600; MIM:609216; Vega:OTTHUMG00000153940
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Spir-1; MGC150621; MGC150622
    Summary
    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]
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    Genomic context

    Location :
    18p11.21
    Sequence :
    Chromosome: 18; NC_000018.9 (12446511..12657912, complement)
    See SPIRE1 in Epigenomics, MapViewer

    Chromosome 18 - NC_000018.9Genomic Context describing neighboring genes Neighboring gene AFG3 ATPase family gene 3-like 2 (S. cerevisiae) Neighboring gene slowmo homolog 1 (Drosophila) Neighboring gene high mobility group box 3 pseudogene 28 Neighboring gene proteasome (prosome, macropain) assembly chaperone 2 Neighboring gene centrosomal protein 76kDa Neighboring gene protein tyrosine phosphatase, non-receptor type 2

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. 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. Zeth K, et al. J Biol Chem, 2011 Sep 2. PMID 21705804.
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    3. Identification of a short Spir interaction sequence at the C-terminal end of formin subgroup proteins. Pechlivanis M, et al. J Biol Chem, 2009 Sep 11. PMID 19605360.
    4. Analysis of the function of Spire in actin assembly and its synergy with formin and profilin. Bosch M, et al. Mol Cell, 2007 Nov 30. PMID 18042452.
    5. Large-scale mapping of human protein-protein interactions by mass spectrometry. Ewing RM, et al. Mol Syst Biol, 2007. PMID 17353931.

    See all (11) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. analysis of the molecular basis of the Spir1/formin-2 interaction
      Title: 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.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. both mammalian Spir proteins, Spir-1 and Spir-2, interact with mammalian Fmn subgroup proteins formin-1 and formin-2
      Title: Identification of a short Spir interaction sequence at the C-terminal end of formin subgroup proteins.
    4. The multifunctional character of the WH2 domains allows Spire to sequester four G-actin subunits binding cooperatively in a tight SA(4) complex and to nucleate, sever, and cap filaments at their barbed ends.
      Title: Analysis of the function of Spire in actin assembly and its synergy with formin and profilin.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:121237 BioGRID:109072 SFN    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121237 BioGRID:116168 YWHAQ    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    protein spire homolog 1
    Names
    protein spire homolog 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001128626.1 → NP_001122098.1  protein spire homolog 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB032961, AP001029
      Consensus CDS
      CCDS45829.1
      UniProtKB/Swiss-Prot
      Q08AE8
      Related
      ENSP00000387266, OTTHUMP00000204686, ENST00000409402, OTTHUMT00000333109
      Conserved Domains (1) summary
      cl09925
      Location:40 – 231
      Blast Score: 391
      PKc_like; Protein Kinases, catalytic domain

    2. NM_001128627.1 → NP_001122099.1  protein spire homolog 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon and differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus and lacks an alternate segment compared to isoform a.
      Source sequence(s)
      AP001029, BC115005, DB056921
      Consensus CDS
      CCDS45830.1
      UniProtKB/Swiss-Prot
      Q08AE8
      Related
      ENSP00000407050, ENST00000453447
      Conserved Domains (1) summary
      cl09925
      Location:2 – 111
      Blast Score: 273
      PKc_like; Protein Kinases, catalytic domain

    3. NM_020148.2 → NP_064533.3  protein spire homolog 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AB032961, AP001029, BC115005
      Consensus CDS
      CCDS32790.2
      UniProtKB/Swiss-Prot
      Q08AE8
      Related
      ENSP00000387226, OTTHUMP00000204687, ENST00000410092, OTTHUMT00000333110
      Conserved Domains (1) summary
      cl09925
      Location:40 – 231
      Blast Score: 391
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000018.9 Reference GRCh37.p5 Primary Assembly

      Range
      12446511..12657912, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000150.1 Alternate HuRef

      Range
      12400079..12611281, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AP001028.7 (118499..172035) None
    genomic AP001029.5 (89649..190042) None
    genomic AP005482.4 (4347..41962) None
    genomic CH471113.2 EAX01544.1
      EAX01545.1
      EAX01546.1
    mRNA AB032961.2 BAA86449.2
    mRNA AJ277587.1 CAB96370.1
    mRNA AK025433.1 None
    mRNA AK090999.1 None
    mRNA AK290180.1 BAF82869.1
    mRNA AK301711.1 BAG63182.1
    mRNA AL833817.1 CAD38680.1
    mRNA BC016825.1 AAH16825.1
    mRNA BC115005.1 AAI15006.1
    mRNA BC125206.1 AAI25207.1
    mRNA BC125207.1 AAI25208.1
    mRNA DB056921.1 None
    mRNA DB506330.1 None
    mRNA DR001109.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08AE8.2 GenPept UniProtKB/Swiss-Prot:Q08AE8
    Q96AS4 GenPept UniProtKB/TrEMBL:Q96AS4
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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