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Aliases for SPIRE1 Gene

Aliases for SPIRE1 Gene

  • Spire-Type Actin Nucleation Factor 1 2 3
  • Spire Family Actin Nucleation Factor 1 2 3
  • Spir-1 3 4
  • Spire Actin Nucleation Factor 1 3
  • Spire Homolog 1 (Drosophila) 2
  • Spire Homolog 1 3
  • KIAA1135 4
  • SPIR1 4

External Ids for SPIRE1 Gene

Previous GeneCards Identifiers for SPIRE1 Gene

  • GC18M012437
  • GC18M012438

Summaries for SPIRE1 Gene

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. Diseases associated with SPIRE1 include smallpox. Among its related pathways are TGF-Beta Pathway and Dorso-ventral axis formation. GO annotations related to this gene include actin binding. An important paralog of this gene is SPIRE2.

UniProtKB/Swiss-Prot for SPIRE1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPIRE1 Gene

Genomics for SPIRE1 Gene

Regulatory Elements for SPIRE1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SPIRE1 Gene

Chromosome:
18
Start:
12,446,512 bp from pter
End:
12,658,134 bp from pter
Size:
211,623 bases
Orientation:
Minus strand

Genomic View for SPIRE1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPIRE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPIRE1 Gene

Proteins for SPIRE1 Gene

  • Protein details for SPIRE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08AE8-SPIR1_HUMAN
    Recommended name:
    Protein spire homolog 1
    Protein Accession:
    Q08AE8
    Secondary Accessions:
    • A8K2B5
    • J3KQ50
    • J3KQR5
    • Q1RMD4
    • Q8NDP1
    • Q9NQ71
    • Q9ULT4

    Protein attributes for SPIRE1 Gene

    Size:
    756 amino acids
    Molecular mass:
    85544 Da
    Quaternary structure:
    • Interacts with FMN2.
    SequenceCaution:
    • Sequence=AAI15006.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI25207.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI25208.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA86449.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPIRE1 Gene

    Alternative splice isoforms for SPIRE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPIRE1 Gene

Proteomics data for SPIRE1 Gene at MOPED

Post-translational modifications for SPIRE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPIRE1 Gene

Domains & Families for SPIRE1 Gene

Protein Domains for SPIRE1 Gene

Suggested Antigen Peptide Sequences for SPIRE1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q08AE8

UniProtKB/Swiss-Prot:

SPIR1_HUMAN :
  • Binds to actin monomers via the WH2 domain.
  • Belongs to the spire family.
Domain:
  • Binds to actin monomers via the WH2 domain.
  • The Spir-box targets binding to intracellular membrane structures.
  • Contains 1 KIND domain.
  • Contains 2 WH2 domains.
Family:
  • Belongs to the spire family.
genes like me logo Genes that share domains with SPIRE1: view

No data available for Gene Families for SPIRE1 Gene

Function for SPIRE1 Gene

Molecular function for SPIRE1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for SPIRE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with SPIRE1: view

Phenotypes for SPIRE1 Gene

genes like me logo Genes that share phenotypes with SPIRE1: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPIRE1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SPIRE1 Gene

Localization for SPIRE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPIRE1 Gene

Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. 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. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPIRE1 Gene COMPARTMENTS Subcellular localization image for SPIRE1 gene
Compartment Confidence
cytoskeleton 3
plasma membrane 3
cytosol 2
golgi apparatus 2
nucleus 2
endosome 1

Gene Ontology (GO) - Cellular Components for SPIRE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0005938 cell cortex ISS --
GO:0030659 cytoplasmic vesicle membrane ISS --
genes like me logo Genes that share ontologies with SPIRE1: view

Pathways & Interactions for SPIRE1 Gene

genes like me logo Genes that share pathways with SPIRE1: view

Pathways by source for SPIRE1 Gene

1 Qiagen pathway for SPIRE1 Gene
1 KEGG pathway for SPIRE1 Gene

Gene Ontology (GO) - Biological Process for SPIRE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport ISS --
GO:0030036 actin cytoskeleton organization IMP 21620703
GO:0036089 cleavage furrow formation ISS --
GO:0040038 polar body extrusion after meiotic divisions ISS --
genes like me logo Genes that share ontologies with SPIRE1: view

No data available for SIGNOR curated interactions for SPIRE1 Gene

Drugs & Compounds for SPIRE1 Gene

No Compound Related Data Available

Transcripts for SPIRE1 Gene

Unigene Clusters for SPIRE1 Gene

Spire homolog 1 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPIRE1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPIRE1 Gene

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: - -
SP6:

Relevant External Links for SPIRE1 Gene

GeneLoc Exon Structure for
SPIRE1
ECgene alternative splicing isoforms for
SPIRE1

Expression for SPIRE1 Gene

mRNA expression in normal human tissues for SPIRE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPIRE1 Gene

This gene is overexpressed in Serum (59.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPIRE1 Gene



SOURCE GeneReport for Unigene cluster for SPIRE1 Gene Hs.515283

genes like me logo Genes that share expression patterns with SPIRE1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SPIRE1 Gene

Orthologs for SPIRE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPIRE1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SPIRE1 35
  • 88.21 (n)
  • 90.34 (a)
SPIRE1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPIRE1 35
  • 90.71 (n)
  • 93.85 (a)
SPIRE1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spire1 35
  • 84.45 (n)
  • 89.02 (a)
Spire1 16
Spire1 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPIRE1 35
  • 99.68 (n)
  • 99.84 (a)
SPIRE1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spire1 35
  • 85.02 (n)
  • 87.55 (a)
oppossum
(Monodelphis domestica)
Mammalia SPIRE1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPIRE1 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPIRE1 35
  • 77.31 (n)
  • 84.17 (a)
SPIRE1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 31 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia spire1 35
  • 68.35 (n)
  • 72.11 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.27230 35
spire1a 35
  • 63.64 (n)
  • 66.32 (a)
CR524823.3 36
  • 62 (a)
OneToMany
SPIRE1 (2 of 3) 36
  • 66 (a)
OneToMany
spire1a 36
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta spir 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8252 36
  • 29 (a)
OneToMany
Species with no ortholog for SPIRE1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPIRE1 Gene

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

Paralogs for SPIRE1 Gene

Paralogs for SPIRE1 Gene

(1) SIMAP similar genes for SPIRE1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SPIRE1: view

Variants for SPIRE1 Gene

Sequence variations from dbSNP and Humsavar for SPIRE1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs472968 -- 12,449,910(+) AAAAC(A/C)AAACA intron-variant
rs478139 -- 12,481,190(-) ACCAC(A/G)CCTGG intron-variant
rs479860 -- 12,525,882(-) AAGAA(A/G)ATGAA intron-variant
rs485566 -- 12,481,378(+) AAACA(C/T)TTGGT intron-variant
rs485815 -- 12,546,180(-) aaccc(C/T)gtctc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPIRE1 Gene

Variant ID Type Subtype PubMed ID
nsv909400 CNV Loss 21882294
dgv1012e1 CNV Complex 17122850
nsv130820 CNV Insertion 16902084
nsv2207 CNV Insertion 18451855
nsv2208 CNV Loss 18451855
nsv523743 CNV Loss 19592680
nsv511600 CNV Loss 21212237
nsv512517 CNV Loss 21212237
esv2668760 CNV Deletion 23128226
esv2716813 CNV Deletion 23290073
esv28832 CNV Loss 19812545
esv2678776 CNV Deletion 23128226
nsv131761 CNV Loss 16902084
esv2656705 CNV Deletion 23128226
esv2716814 CNV Deletion 23290073
esv28888 CNV Loss 19812545

Variation tolerance for SPIRE1 Gene

Residual Variation Intolerance Score: 4.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.80; 33.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPIRE1 Gene

HapMap Linkage Disequilibrium report
SPIRE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPIRE1 Gene

Disorders for SPIRE1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPIRE1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
smallpox
  • ordinary smallpox
- elite association

Relevant External Links for SPIRE1

Genetic Association Database (GAD)
SPIRE1
Human Genome Epidemiology (HuGE) Navigator
SPIRE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPIRE1
genes like me logo Genes that share disorders with SPIRE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPIRE1 Gene

Publications for SPIRE1 Gene

  1. Overlapping expression pattern of the actin organizers Spir-1 and formin-2 in the developing mouse nervous system and the adult brain. (PMID: 15053972) Schumacher N. … Kerkhoff E. (Gene Expr. Patterns 2004) 23 67
  2. The Spir actin organizers are involved in vesicle transport processes. (PMID: 11747823) Kerkhoff E. … Pepperkok R. (Curr. Biol. 2001) 2 67
  3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M. … Ohara O. (DNA Res. 1999) 2 67
  4. Spire-1 contributes to the invadosome and its associated invasive properties. (PMID: 24213528) Lagal V. … Tardieux I. (J. Cell. Sci. 2014) 67
  5. Spire and Formin 2 synergize and antagonize in regulating actin assembly in meiosis by a ping-pong mechanism. (PMID: 24586110) Montaville P. … Carlier M.F. (PLoS Biol. 2014) 67

Products for SPIRE1 Gene

Sources for SPIRE1 Gene

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