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Aliases for SPIRE1 Gene

Aliases for SPIRE1 Gene

  • Spire Type Actin Nucleation Factor 1 2 3 5
  • Spire Family Actin Nucleation Factor 1 2 3
  • Spir-1 3 4
  • Spire-Type Actin Nucleation Factor 1 2
  • Spire Actin Nucleation Factor 1 3
  • Spire Homolog 1 (Drosophila) 2
  • Protein Spire Homolog 1 3
  • 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 Dorso-ventral axis formation and TGF-Beta Pathway. 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 an 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 CIViC summary , 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

Enhancers for SPIRE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G012605 1.8 FANTOM5 Ensembl ENCODE dbSUPER 33.4 +50.7 50729 3.3 PKNOX1 FOXA2 SIN3A GATA2 FOS NFIL3 MAFF ATF4 STAT3 HNF4A SPIRE1 PRELID3A ENSG00000267199 RNU7-129P AFG3L2 PSMG2 CEP76 PTPN2 GC18P012513
GH18G012595 1.5 Ensembl ENCODE dbSUPER 35.2 +60.0 60009 4.8 FOXA2 ARID4B ZNF766 GATA2 FOS MIER2 PPARG NFIL3 MBD2 SSRP1 SPIRE1 PRELID3A RNU7-129P PSMG2 GC18P012513
GH18G012639 1.5 FANTOM5 Ensembl ENCODE 28.9 +17.3 17347 1.9 ATF1 FOXA2 PKNOX1 ARNT ARID4B SIN3A GATA2 FOS REST KAT8 SPIRE1 PSMG2 GC18P012513
GH18G012700 1.1 ENCODE 27.4 -44.4 -44375 4.9 HNRNPUL1 FOXA2 CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SPIRE1 CEP76 PIR52927
GH18G012656 1 ENCODE 29.3 +0.5 482 3.0 PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF48 ZNF121 GLIS2 KLF7 SP3 SPIRE1 PRELID3A PSMG2 GC18P012513
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPIRE1 on UCSC Golden Path with GeneCards custom track

Promoters for SPIRE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000100998 534 2801 ATF1 ARID4B SIN3A DMAP1 ZNF48 ZNF121 GLIS2 KLF7 ZNF263 SP3

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

Genes around SPIRE1 on UCSC Golden Path with GeneCards custom track

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPIRE1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 4
plasma membrane 3
extracellular 1
endosome 1

Gene Ontology (GO) - Cellular Components for SPIRE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
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 KEGG pathway for SPIRE1 Gene
1 Qiagen pathway for SPIRE1 Gene

Interacting Proteins for SPIRE1 Gene

Gene Ontology (GO) - Biological Process for SPIRE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA,ISS --
GO:0030036 actin cytoskeleton organization IMP 21620703
GO:0036089 cleavage furrow formation 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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SPIRE1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SPIRE1 Gene:

SPIRE1

SOURCE GeneReport for Unigene cluster for SPIRE1 Gene:

Hs.515283

Evidence on tissue expression from TISSUES for SPIRE1 Gene

  • Nervous system(4.8)
  • Lung(3)
genes like me logo Genes that share expression patterns with SPIRE1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SPIRE1 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia SPIRE1 34 35
  • 90.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPIRE1 35
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SPIRE1 34 35
  • 88.21 (n)
rat
(Rattus norvegicus)
Mammalia Spire1 34
  • 85.02 (n)
mouse
(Mus musculus)
Mammalia Spire1 34 16 35
  • 84.45 (n)
oppossum
(Monodelphis domestica)
Mammalia SPIRE1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPIRE1 34 35
  • 77.31 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 31 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia spire1 34
  • 68.35 (n)
zebrafish
(Danio rerio)
Actinopterygii SPIRE1 (2 of 3) 35
  • 66 (a)
OneToMany
spire1a 34 35
  • 63.64 (n)
CR524823.3 35
  • 62 (a)
OneToMany
Dr.27230 34
fruit fly
(Drosophila melanogaster)
Insecta spir 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8252 35
  • 29 (a)
OneToMany
Species where no ortholog for SPIRE1 was found in the sources mined by GeneCards:
  • 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
rs1000017687 -- 12,556,019(+) CCATA(C/T)GCCAA intron-variant
rs1000018450 -- 12,659,565(+) CCCGG(A/G)AGGCT intron-variant, upstream-variant-2KB
rs1000021839 -- 12,599,307(+) CTGGA(C/G)TGCAG intron-variant
rs1000023160 -- 12,541,175(+) CATAT(A/C)TGGCT intron-variant
rs1000035195 -- 12,581,156(+) CAGGT(A/G)AGACC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv5858n54 CNV gain 21841781
dgv5859n54 CNV gain 21841781
dgv5860n54 CNV loss 21841781
dgv5861n54 CNV gain+loss 21841781
dgv5862n54 CNV loss 21841781
dgv5863n54 CNV gain 21841781
dgv5864n54 CNV loss 21841781
esv2656705 CNV deletion 23128226
esv2668760 CNV deletion 23128226
esv2678776 CNV deletion 23128226
esv2716813 CNV deletion 23290073
esv2716814 CNV deletion 23290073
esv2758714 CNV loss 17122850
esv28832 CNV loss 19812545
esv28888 CNV loss 19812545
esv3555068 CNV deletion 23714750
esv3555069 CNV deletion 23714750
esv3582978 CNV loss 25503493
esv3582979 CNV loss 25503493
esv3641838 CNV loss 21293372
esv3641840 CNV loss 21293372
esv3641841 CNV loss 21293372
nsv1060808 CNV gain 25217958
nsv1063125 CNV loss 25217958
nsv1072777 CNV deletion 25765185
nsv1116254 CNV deletion 24896259
nsv1127615 CNV deletion 24896259
nsv1133420 CNV deletion 24896259
nsv130820 CNV insertion 16902084
nsv131761 CNV deletion 16902084
nsv2207 CNV insertion 18451855
nsv2208 CNV deletion 18451855
nsv511600 CNV loss 21212237
nsv512517 CNV loss 21212237
nsv523743 CNV loss 19592680
nsv576496 CNV gain 21841781
nsv576507 CNV loss 21841781
nsv576508 CNV loss 21841781
nsv978607 CNV duplication 23825009

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 - COSMIC cancer census association via MalaCards

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. The Spir actin organizers are involved in vesicle transport processes. (PMID: 11747823) Kerkhoff E. … Pepperkok R. (Curr. Biol. 2001) 2 3 4 64
  2. 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 3 4 64
  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. (PMID: 21705804) Zeth K. … Kerkhoff E. (J. Biol. Chem. 2011) 3 4 64
  4. Spire-type actin nucleators cooperate with Formin-2 to drive asymmetric oocyte division. (PMID: 21620703) Pfender S. … Schuh M. (Curr. Biol. 2011) 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for SPIRE1 Gene

Sources for SPIRE1 Gene

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